CleftGeneDB-Search

Gene: MAFB

Basic information

Tag	Content
Uniprot ID	Q9Y5Q3; B3KNE1; Q9H1F1;
Entrez ID	9935
Genbank protein ID	AAD30106.1; BAG51303.1; AAH28098.1; AAH36689.1; EAW76000.1;
Genbank nucleotide ID	NM_005461.4
Ensembl protein ID	ENSP00000362410
Ensembl nucleotide ID	ENSG00000204103
Gene name	Transcription factor MafB
Gene symbol	MAFB
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	21567910; 24972815; 25081408; 21834038; 20436469;
Functional description	Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity).
Sequence	MAAELSMGPE LPTSPLAMEY VNDFDLLKFD VKKEPLGRAE RPGRPCTRLQ PAGSVSSTPL 60 STPCSSVPSS PSFSPTEQKT HLEDLYWMAS NYQQMNPEAL NLTPEDAVEA LIGSHPVPQP 120 LQSFDSFRGA HHHHHHHHPH PHHAYPGAGV AHDELGPHAH PHHHHHHQAS PPPSSAASPA 180 QQLPTSHPGP GPHATASATA AGGNGSVEDR FSDDQLVSMS VRELNRHLRG FTKDEVIRLK 240 QKRRTLKNRG YAQSCRYKRV QQKHHLENEK TQLIQQVEQL KQEVSRLARE RDAYKVKCEK 300 LANSGFREAG STSDSPSSPE FFL 323

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MAFB	532376	F1N054		Bos taurus	Prediction	More>>
1:1 ortholog	MAFB		A0A452EFD6		Capra hircus	Prediction	More>>
1:1 ortholog	MAFB	9935	Q9Y5Q3	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Mafb	16658	P54841		Mus musculus	Prediction	More>>
1:1 ortholog	MAFB	469941	H2R8Y7		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1TQX0		Sus scrofa	Prediction	More>>
1:1 ortholog	Mafb	54264	P54842		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mafb		Q98UK5		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MAFB	rs6065259	Mini-sequencing	24972815
MAFB	rs13041247	Mini-sequencing	24972815
MAFB	rs13041247T>C	Genotyping and sequencing	21834038
MAFB	rs17820943C>T	GWAS	31609978
MAFB	rs6129653G>A	GWAS	28232668
MAFB	rs13041247	Genotyping and GWAS	20436469
MAFB	rs17820943C>T (reduce risk)	Genotyping and GWAS	32646788
MAFB	rs6072081A>G (reduce risk)	Genotyping and GWAS	32646788
MAFB	rs13041247T>C (reduce risk)	Genotyping and GWAS	32646788
MAFB	rs13041247T>C (reduce risk)	meta analysis	31387249
MAFB	c.493C>G; p.His165Asn	GWAS	25081408
MAFB	rs11696257	Genotyping	21567910
MAFB	rs13041247	Genotyping	21567910
MAFB	rs6016399	Genotyping and GWAS	27033726
MAFB	rs11698990	Genotyping and GWAS	27033726
MAFB	rs6102085	Genotyping and GWAS	27033726
MAFB	rs4810299	Genotyping and GWAS	27033726
MAFB	rs13041247	GWAS	20436469
MAFB	rs6072081	GWAS	20436469
MAFB	rs6065259	GWAS	20436469
MAFB	rs17820943	GWAS	20436469
MAFB	rs11696257	GWAS	20436469
MAFB	rs6102085	GWAS	20436469

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1182912123	p.Ala2Val	missense variant	-	NC_000020.11:g.40688846G>A	gnomAD
rs200121747	p.Ala3Thr	missense variant	-	NC_000020.11:g.40688844C>T	1000Genomes,ExAC,gnomAD
rs745460952	p.Glu4Ala	missense variant	-	NC_000020.11:g.40688840T>G	ExAC,gnomAD
rs778428156	p.Ser6Asn	missense variant	-	NC_000020.11:g.40688834C>T	ExAC,gnomAD
rs889345911	p.Met7Ile	missense variant	-	NC_000020.11:g.40688830C>T	TOPMed
rs889345911	p.Met7Ile	missense variant	-	NC_000020.11:g.40688830C>A	TOPMed
rs1265509172	p.Gly8Arg	missense variant	-	NC_000020.11:g.40688829C>T	TOPMed,gnomAD
rs1265509172	p.Gly8Arg	missense variant	-	NC_000020.11:g.40688829C>G	TOPMed,gnomAD
rs756994138	p.Glu10Gly	missense variant	-	NC_000020.11:g.40688822T>C	ExAC,gnomAD
rs756994138	p.Glu10Ala	missense variant	-	NC_000020.11:g.40688822T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu10Lys	missense variant	-	NC_000020.11:g.40688823C>T	NCI-TCGA
rs1185769365	p.Pro12Ser	missense variant	-	NC_000020.11:g.40688817G>A	TOPMed
rs199769070	p.Ser14Arg	missense variant	-	NC_000020.11:g.40688809G>T	TOPMed,gnomAD
rs1379550152	p.Pro15Gln	missense variant	-	NC_000020.11:g.40688807G>T	gnomAD
rs753326927	p.Ala17Thr	missense variant	-	NC_000020.11:g.40688802C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala17Asp	missense variant	-	NC_000020.11:g.40688801G>T	NCI-TCGA
rs777309003	p.Glu19Gln	missense variant	-	NC_000020.11:g.40688796C>G	ExAC,TOPMed,gnomAD
rs1408530531	p.Asn22Ser	missense variant	-	NC_000020.11:g.40688786T>C	TOPMed
rs1354253826	p.Phe29Leu	missense variant	-	NC_000020.11:g.40688764G>C	TOPMed
rs1218714074	p.Glu34Lys	missense variant	-	NC_000020.11:g.40688751C>T	TOPMed
rs765363066	p.Leu36Val	missense variant	-	NC_000020.11:g.40688745G>C	ExAC,gnomAD
rs762174141	p.Gly37Glu	missense variant	-	NC_000020.11:g.40688741C>T	ExAC,gnomAD
rs776821286	p.Arg38Cys	missense variant	-	NC_000020.11:g.40688739G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776821286	p.Arg38Cys	missense variant	-	NC_000020.11:g.40688739G>A	ExAC,TOPMed
rs776821286	p.Arg38Gly	missense variant	-	NC_000020.11:g.40688739G>C	ExAC,TOPMed
rs1418136550	p.Ala39Pro	missense variant	-	NC_000020.11:g.40688736C>G	TOPMed,gnomAD
rs760632449	p.Glu40Gln	missense variant	-	NC_000020.11:g.40688733C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu40Lys	missense variant	-	NC_000020.11:g.40688733C>T	NCI-TCGA
rs775295119	p.Arg41Ser	missense variant	-	NC_000020.11:g.40688730G>T	ExAC,gnomAD
rs1290466873	p.Pro42Leu	missense variant	-	NC_000020.11:g.40688726G>A	gnomAD
RCV000728664	p.Pro42Leu	missense variant	-	NC_000020.11:g.40688726G>A	ClinVar
NCI-TCGA novel	p.Pro42Gln	missense variant	-	NC_000020.11:g.40688726G>T	NCI-TCGA
rs745639181	p.Gly43Asp	missense variant	-	NC_000020.11:g.40688723C>T	ExAC,gnomAD
rs1238714295	p.Pro45Leu	missense variant	-	NC_000020.11:g.40688717G>A	gnomAD
RCV000599139	p.Cys46Ter	frameshift	-	NC_000020.11:g.40688718del	ClinVar
rs556212539	p.Cys46Arg	missense variant	-	NC_000020.11:g.40688715A>G	1000Genomes,ExAC,gnomAD
rs892255768	p.Thr47Ile	missense variant	-	NC_000020.11:g.40688711G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Thr47Ala	missense variant	-	NC_000020.11:g.40688712T>C	NCI-TCGA
rs777211337	p.Arg48Ser	missense variant	-	NC_000020.11:g.40688709G>T	ExAC,gnomAD
rs1016321497	p.Arg48His	missense variant	-	NC_000020.11:g.40688708C>T	gnomAD
rs777211337	p.Arg48Cys	missense variant	-	NC_000020.11:g.40688709G>A	ExAC,gnomAD
rs1208629793	p.Ala52Asp	missense variant	-	NC_000020.11:g.40688696G>T	TOPMed
RCV000023752	p.Ser54Leu	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688690G>A	ClinVar
rs730880014	p.Ser54Leu	missense variant	-	NC_000020.11:g.40688690G>A	-
RCV000724296	p.Ser54Leu	missense variant	-	NC_000020.11:g.40688690G>A	ClinVar
VAR_067980	p.Pro59Leu	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
rs750730032	p.Leu60Ile	missense variant	-	NC_000020.11:g.40688673G>T	ExAC,TOPMed,gnomAD
rs750730032	p.Leu60Phe	missense variant	-	NC_000020.11:g.40688673G>A	ExAC,TOPMed,gnomAD
rs200497222	p.Leu60His	missense variant	-	NC_000020.11:g.40688672A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs387907004	p.Thr62Pro	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688667T>G	UniProt,dbSNP
VAR_067981	p.Thr62Pro	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688667T>G	UniProt
rs387907004	p.Thr62Pro	missense variant	-	NC_000020.11:g.40688667T>G	-
RCV000023747	p.Thr62Pro	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688667T>G	ClinVar
VAR_067982	p.Pro63Arg	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
rs1261578040	p.Ser65Asn	missense variant	-	NC_000020.11:g.40688657C>T	gnomAD
VAR_067983	p.Ser66Cys	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
rs1555826433	p.Ser69Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688645G>A	UniProt,dbSNP
VAR_067984	p.Ser69Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688645G>A	UniProt
rs1555826433	p.Ser69Leu	missense variant	-	NC_000020.11:g.40688645G>A	-
RCV000497479	p.Ser69Leu	missense variant	-	NC_000020.11:g.40688645G>A	ClinVar
rs387907005	p.Ser70Ala	missense variant	-	NC_000020.11:g.40688643A>C	-
rs387907005	p.Ser70Ala	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688643A>C	UniProt,dbSNP
VAR_067985	p.Ser70Ala	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688643A>C	UniProt
RCV000023749	p.Ser70Leu	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688642G>A	ClinVar
RCV000023748	p.Ser70Ala	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688643A>C	ClinVar
rs387907006	p.Ser70Leu	missense variant	-	NC_000020.11:g.40688642G>A	-
rs387907006	p.Ser70Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688642G>A	UniProt,dbSNP
VAR_067986	p.Ser70Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688642G>A	UniProt
RCV000023750	p.Pro71Ser	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688640G>A	ClinVar
rs387907007	p.Pro71Ser	missense variant	-	NC_000020.11:g.40688640G>A	-
rs387907007	p.Pro71Ser	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688640G>A	UniProt,dbSNP
VAR_067988	p.Pro71Ser	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688640G>A	UniProt
RCV000023751	p.Pro71Leu	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688639G>A	ClinVar
rs387907008	p.Pro71Leu	missense variant	-	NC_000020.11:g.40688639G>A	-
rs387907008	p.Pro71Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688639G>A	UniProt,dbSNP
VAR_067987	p.Pro71Leu	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688639G>A	UniProt
rs775699125	p.Ser72Arg	missense variant	-	NC_000020.11:g.40688637T>G	ExAC,gnomAD
rs138989733	p.Thr76Asn	missense variant	-	NC_000020.11:g.40688624G>T	ESP,TOPMed
rs1268494486	p.Glu77Lys	missense variant	-	NC_000020.11:g.40688622C>T	NCI-TCGA Cosmic
rs1268494486	p.Glu77Lys	missense variant	-	NC_000020.11:g.40688622C>T	gnomAD
rs1278905342	p.His81Gln	missense variant	-	NC_000020.11:g.40688608G>T	TOPMed,gnomAD
rs567233558	p.Leu82Ile	missense variant	-	NC_000020.11:g.40688607G>T	1000Genomes,ExAC,gnomAD
rs567233558	p.Leu82Val	missense variant	-	NC_000020.11:g.40688607G>C	1000Genomes,ExAC,gnomAD
rs1229624790	p.Asp84Asn	missense variant	-	NC_000020.11:g.40688601C>T	gnomAD
rs927754777	p.Asp84Glu	missense variant	-	NC_000020.11:g.40688599A>C	TOPMed
rs377639854	p.Leu85Met	missense variant	-	NC_000020.11:g.40688598G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377639854	p.Leu85Met	missense variant	-	NC_000020.11:g.40688598G>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000377699	p.Leu85Met	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688598G>T	ClinVar
rs1226236019	p.Tyr86His	missense variant	-	NC_000020.11:g.40688595A>G	TOPMed
COSM4699847	p.Ser90Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688582C>T	NCI-TCGA Cosmic
rs1303771198	p.Met95Thr	missense variant	-	NC_000020.11:g.40688567A>G	TOPMed
rs1402607458	p.Asn96Asp	missense variant	-	NC_000020.11:g.40688565T>C	TOPMed,gnomAD
rs201783302	p.Pro97Ser	missense variant	-	NC_000020.11:g.40688562G>A	NCI-TCGA
rs201783302	p.Pro97Ser	missense variant	-	NC_000020.11:g.40688562G>A	1000Genomes,ExAC,gnomAD
rs374174345	p.Glu98Asp	missense variant	-	NC_000020.11:g.40688557C>G	ExAC,TOPMed,gnomAD
COSM4098371	p.Ala99Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688556C>T	NCI-TCGA Cosmic
COSM4098370	p.Ala99Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688555G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala107Thr	missense variant	-	NC_000020.11:g.40688532C>T	NCI-TCGA
COSM3546298	p.Glu109Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688526C>T	NCI-TCGA Cosmic
rs1478496155	p.Ala110Glu	missense variant	-	NC_000020.11:g.40688522G>T	gnomAD
rs769500671	p.Gly113Ser	missense variant	-	NC_000020.11:g.40688514C>T	ExAC,gnomAD
rs780801645	p.Ser114Leu	missense variant	-	NC_000020.11:g.40688510G>A	ExAC,gnomAD
rs150718854	p.Ser114Pro	missense variant	-	NC_000020.11:g.40688511A>G	ESP,ExAC,TOPMed,gnomAD
rs779090359	p.His115Gln	missense variant	-	NC_000020.11:g.40688506G>T	ExAC,gnomAD
rs1220720494	p.Pro116Ala	missense variant	-	NC_000020.11:g.40688505G>C	gnomAD
rs757701275	p.Val117Met	missense variant	-	NC_000020.11:g.40688502C>T	ExAC,TOPMed,gnomAD
rs1269716780	p.Pro118Ser	missense variant	-	NC_000020.11:g.40688499G>A	gnomAD
rs1253881410	p.Pro118Arg	missense variant	-	NC_000020.11:g.40688498G>C	TOPMed
rs764399516	p.Pro120Leu	missense variant	-	NC_000020.11:g.40688492G>A	ExAC,gnomAD
rs752691658	p.Leu121Pro	missense variant	-	NC_000020.11:g.40688489A>G	ExAC,TOPMed,gnomAD
RCV000263923	p.Leu121Pro	missense variant	-	NC_000020.11:g.40688489A>G	ClinVar
rs767671011	p.Ser123Thr	missense variant	-	NC_000020.11:g.40688483C>G	ExAC,TOPMed,gnomAD
COSM5414225	p.Asp125Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688478C>T	NCI-TCGA Cosmic
rs1454735712	p.Asp125Gly	missense variant	-	NC_000020.11:g.40688477T>C	TOPMed
rs759347042	p.Ser126Arg	missense variant	-	NC_000020.11:g.40688475T>G	ExAC,gnomAD
rs375150121	p.Ala130Val	missense variant	-	NC_000020.11:g.40688462G>A	ESP,ExAC,TOPMed,gnomAD
rs1370644371	p.Ala130Ser	missense variant	-	NC_000020.11:g.40688463C>A	gnomAD
rs121912307	p.His131Gln	missense variant	-	NC_000020.11:g.40688458G>T	ExAC,TOPMed,gnomAD
rs1326089909	p.His132Tyr	missense variant	-	NC_000020.11:g.40688457G>A	TOPMed
rs773047325	p.His134Arg	missense variant	-	NC_000020.11:g.40688450T>C	ExAC,gnomAD
rs769412741	p.His134Gln	missense variant	-	NC_000020.11:g.40688449G>T	ExAC,gnomAD
rs371814365	p.His135Gln	missense variant	-	NC_000020.11:g.40688446A>T	ESP,ExAC,TOPMed
rs1372757434	p.His135Tyr	missense variant	-	NC_000020.11:g.40688448G>A	TOPMed
rs775963285	p.His136Gln	missense variant	-	NC_000020.11:g.40688443G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His138Tyr	missense variant	-	NC_000020.11:g.40688439G>A	NCI-TCGA
COSM4098367	p.Pro139His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688435G>T	NCI-TCGA Cosmic
rs1267105565	p.His140Tyr	missense variant	-	NC_000020.11:g.40688433G>A	gnomAD
rs1475429491	p.Pro141Ala	missense variant	-	NC_000020.11:g.40688430G>C	TOPMed,gnomAD
rs1475429491	p.Pro141Ser	missense variant	-	NC_000020.11:g.40688430G>A	TOPMed,gnomAD
rs1309759695	p.Ala144Ser	missense variant	-	NC_000020.11:g.40688421C>A	gnomAD
rs1327781040	p.Pro146Leu	missense variant	-	NC_000020.11:g.40688414G>A	gnomAD
rs1333677488	p.Pro146Ala	missense variant	-	NC_000020.11:g.40688415G>C	gnomAD
rs1327781040	p.Pro146Leu	missense variant	-	NC_000020.11:g.40688414G>A	NCI-TCGA Cosmic
rs749649554	p.Gly147Ser	missense variant	-	NC_000020.11:g.40688412C>T	ExAC,gnomAD
RCV000235078	p.Gly147Ter	frameshift	Duane syndrome type 3	NC_000020.11:g.40688413del	ClinVar
rs1392297545	p.Gly147Asp	missense variant	-	NC_000020.11:g.40688411C>T	TOPMed,gnomAD
RCV000240729	p.Gly147Ter	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688413del	ClinVar
rs1192032045	p.Ala148Val	missense variant	-	NC_000020.11:g.40688408G>A	TOPMed
rs1381311648	p.Gly149Ala	missense variant	-	NC_000020.11:g.40688405C>G	gnomAD
rs1381311648	p.Gly149Asp	missense variant	-	NC_000020.11:g.40688405C>T	gnomAD
rs1424631917	p.Gly149Arg	missense variant	-	NC_000020.11:g.40688406C>G	gnomAD
rs756368724	p.Val150Met	missense variant	-	NC_000020.11:g.40688403C>T	ExAC,TOPMed,gnomAD
rs1232452672	p.Ala151Val	missense variant	-	NC_000020.11:g.40688399G>A	TOPMed,gnomAD
rs1199894245	p.His152Tyr	missense variant	-	NC_000020.11:g.40688397G>A	gnomAD
rs893483748	p.Asp153His	missense variant	-	NC_000020.11:g.40688394C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu154Lys	missense variant	-	NC_000020.11:g.40688391C>T	NCI-TCGA
rs1358722477	p.Leu155Pro	missense variant	-	NC_000020.11:g.40688387A>G	gnomAD
rs1204096115	p.Pro157Ser	missense variant	-	NC_000020.11:g.40688382G>A	gnomAD
rs1278548741	p.Ala159Val	missense variant	-	NC_000020.11:g.40688375G>A	gnomAD
rs751653169	p.His163Tyr	missense variant	-	NC_000020.11:g.40688364G>A	ExAC,gnomAD
COSM3546297	p.His165Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688357T>C	NCI-TCGA Cosmic
rs1482038344	p.His165Tyr	missense variant	-	NC_000020.11:g.40688358G>A	gnomAD
rs1361670470	p.His166Tyr	missense variant	-	NC_000020.11:g.40688355G>A	gnomAD
rs182855658	p.Gln168Lys	missense variant	-	NC_000020.11:g.40688349G>T	1000Genomes
rs766287913	p.Pro171Ser	missense variant	-	NC_000020.11:g.40688340G>A	ExAC,TOPMed,gnomAD
rs1173358592	p.Pro172Gln	missense variant	-	NC_000020.11:g.40688336G>T	TOPMed,gnomAD
rs1173358592	p.Pro172Leu	missense variant	-	NC_000020.11:g.40688336G>A	TOPMed,gnomAD
rs1335120742	p.Pro173Leu	missense variant	-	NC_000020.11:g.40688333G>A	TOPMed
rs1266854578	p.Ser175Gly	missense variant	-	NC_000020.11:g.40688328T>C	gnomAD
rs886056674	p.Ser175Arg	missense variant	-	NC_000020.11:g.40688326G>C	-
RCV000262870	p.Ser175Arg	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688326G>C	ClinVar
rs750186410	p.Ala176Pro	missense variant	-	NC_000020.11:g.40688325C>G	ExAC,TOPMed,gnomAD
rs750186410	p.Ala176Thr	missense variant	-	NC_000020.11:g.40688325C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala176GlyPheSerTerUnk	frameshift	-	NC_000020.11:g.40688314_40688324CGGGCTAGCGG>-	NCI-TCGA
rs1217902710	p.Ala177Val	missense variant	-	NC_000020.11:g.40688321G>A	gnomAD
rs765047573	p.Ala177Ser	missense variant	-	NC_000020.11:g.40688322C>A	ExAC,TOPMed,gnomAD
rs765047573	p.Ala177Thr	missense variant	-	NC_000020.11:g.40688322C>T	ExAC,TOPMed,gnomAD
rs761323005	p.Ser178Arg	missense variant	-	NC_000020.11:g.40688317G>C	ExAC,gnomAD
rs1212045912	p.Pro179Arg	missense variant	-	NC_000020.11:g.40688315G>C	TOPMed
rs935109003	p.Ala180Glu	missense variant	-	NC_000020.11:g.40688312G>T	TOPMed,gnomAD
rs776350709	p.Gln181Leu	missense variant	-	NC_000020.11:g.40688309T>A	ExAC,gnomAD
rs1197963981	p.Pro184His	missense variant	-	NC_000020.11:g.40688300G>T	TOPMed
rs768260907	p.Pro184Ala	missense variant	-	NC_000020.11:g.40688301G>C	ExAC,gnomAD
rs1344941021	p.Ser186Arg	missense variant	-	NC_000020.11:g.40688293G>T	gnomAD
rs760220738	p.His187Gln	missense variant	-	NC_000020.11:g.40688290G>T	ExAC,gnomAD
rs1416365415	p.Gly189Arg	missense variant	-	NC_000020.11:g.40688286C>T	TOPMed,gnomAD
rs1416365415	p.Gly189Trp	missense variant	-	NC_000020.11:g.40688286C>A	TOPMed,gnomAD
rs775190671	p.Gly189Val	missense variant	-	NC_000020.11:g.40688285C>A	ExAC,gnomAD
rs1030763945	p.Gly191Arg	missense variant	-	NC_000020.11:g.40688280C>T	TOPMed,gnomAD
rs1003682274	p.Pro192Arg	missense variant	-	NC_000020.11:g.40688276G>C	TOPMed
rs1419380581	p.Pro192Thr	missense variant	-	NC_000020.11:g.40688277G>T	TOPMed
rs563409960	p.His193Gln	missense variant	-	NC_000020.11:g.40688272G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs563409960	p.His193Gln	missense variant	-	NC_000020.11:g.40688272G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771536349	p.His193Tyr	missense variant	-	NC_000020.11:g.40688274G>A	ExAC,TOPMed,gnomAD
rs1295117737	p.Ala194Gly	missense variant	-	NC_000020.11:g.40688270G>C	TOPMed
rs1484891390	p.Ala194Thr	missense variant	-	NC_000020.11:g.40688271C>T	gnomAD
rs778237314	p.Thr195Lys	missense variant	-	NC_000020.11:g.40688267G>T	ExAC,gnomAD
rs1462492060	p.Ala196Thr	missense variant	-	NC_000020.11:g.40688265C>T	gnomAD
rs1317976569	p.Ser197Leu	missense variant	-	NC_000020.11:g.40688261G>A	gnomAD
rs770211627	p.Ser197Thr	missense variant	-	NC_000020.11:g.40688262A>T	ExAC,gnomAD
rs1213315846	p.Ala198Glu	missense variant	-	NC_000020.11:g.40688258G>T	TOPMed,gnomAD
rs1213315846	p.Ala198Val	missense variant	-	NC_000020.11:g.40688258G>A	TOPMed,gnomAD
rs1361934078	p.Thr199Lys	missense variant	-	NC_000020.11:g.40688255G>T	TOPMed,gnomAD
rs1361934078	p.Thr199Met	missense variant	-	NC_000020.11:g.40688255G>A	TOPMed,gnomAD
rs1450550174	p.Ala200Thr	missense variant	-	NC_000020.11:g.40688253C>T	TOPMed,gnomAD
rs947866370	p.Ala201Glu	missense variant	-	NC_000020.11:g.40688249G>T	TOPMed,gnomAD
rs1402543229	p.Gly202Ala	missense variant	-	NC_000020.11:g.40688246C>G	gnomAD
NCI-TCGA novel	p.Gly203Cys	missense variant	-	NC_000020.11:g.40688244C>A	NCI-TCGA
rs747066288	p.Gly205Cys	missense variant	-	NC_000020.11:g.40688238C>A	ExAC,TOPMed,gnomAD
rs747066288	p.Gly205Ser	missense variant	-	NC_000020.11:g.40688238C>T	ExAC,TOPMed,gnomAD
rs909242045	p.Ser206Ile	missense variant	-	NC_000020.11:g.40688234C>A	TOPMed,gnomAD
rs758291175	p.Ser206Arg	missense variant	-	NC_000020.11:g.40688233G>T	ExAC,gnomAD
rs909242045	p.Ser206Asn	missense variant	-	NC_000020.11:g.40688234C>T	TOPMed,gnomAD
rs1241099642	p.Val207Met	missense variant	-	NC_000020.11:g.40688232C>T	gnomAD
NCI-TCGA novel	p.Asp209Gly	missense variant	-	NC_000020.11:g.40688225T>C	NCI-TCGA
RCV000722273	p.Arg210Leu	missense variant	-	NC_000020.11:g.40688222C>A	ClinVar
rs750382415	p.Arg210Cys	missense variant	-	NC_000020.11:g.40688223G>A	ExAC,gnomAD
rs750382415	p.Arg210Ser	missense variant	-	NC_000020.11:g.40688223G>T	ExAC,gnomAD
rs1484365696	p.Ser212Phe	missense variant	-	NC_000020.11:g.40688216G>A	TOPMed
rs17853698	p.Asp213Glu	missense variant	-	NC_000020.11:g.40688212G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs757070308	p.Asp214Tyr	missense variant	-	NC_000020.11:g.40688211C>A	ExAC,gnomAD
RCV000240779	p.Gln215Ter	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688207del	ClinVar
RCV000235047	p.Gln215Ter	frameshift	Duane syndrome type 3	NC_000020.11:g.40688207del	ClinVar
rs1248829039	p.Val217Leu	missense variant	-	NC_000020.11:g.40688202C>A	gnomAD
rs1314841503	p.Ser218Pro	missense variant	-	NC_000020.11:g.40688199A>G	gnomAD
rs1447779158	p.Met219Ile	missense variant	-	NC_000020.11:g.40688194C>T	gnomAD
NCI-TCGA novel	p.Val221Glu	missense variant	-	NC_000020.11:g.40688189A>T	NCI-TCGA
NCI-TCGA novel	p.Val221Met	missense variant	-	NC_000020.11:g.40688190C>T	NCI-TCGA
rs1296674214	p.Arg222Ser	missense variant	-	NC_000020.11:g.40688187G>T	gnomAD
rs1165363563	p.Arg226His	missense variant	-	NC_000020.11:g.40688174C>T	gnomAD
NCI-TCGA novel	p.Gly230Cys	missense variant	-	NC_000020.11:g.40688163C>A	NCI-TCGA
rs1162762636	p.Thr232Ser	missense variant	-	NC_000020.11:g.40688156G>C	TOPMed,gnomAD
rs1231675086	p.Lys233Met	missense variant	-	NC_000020.11:g.40688153T>A	TOPMed,gnomAD
rs1231675086	p.Lys233Thr	missense variant	-	NC_000020.11:g.40688153T>G	TOPMed,gnomAD
rs1440096426	p.Asp234Gly	missense variant	-	NC_000020.11:g.40688150T>C	gnomAD
COSM5984187	p.Glu235Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688148C>T	NCI-TCGA Cosmic
rs1479999211	p.Arg238His	missense variant	-	NC_000020.11:g.40688138C>T	gnomAD
rs1373595734	p.Arg243Pro	missense variant	-	NC_000020.11:g.40688123C>G	TOPMed
NCI-TCGA novel	p.Arg244Leu	missense variant	-	NC_000020.11:g.40688120C>A	NCI-TCGA
NCI-TCGA novel	p.Asn248Lys	missense variant	-	NC_000020.11:g.40688107G>C	NCI-TCGA
NCI-TCGA novel	p.Cys255Trp	missense variant	-	NC_000020.11:g.40688086G>C	NCI-TCGA
rs773855888	p.Val260Phe	missense variant	-	NC_000020.11:g.40688073C>A	ExAC,gnomAD
rs1368352854	p.His265Tyr	missense variant	-	NC_000020.11:g.40688058G>A	gnomAD
RCV000235061	p.Asn268Ter	frameshift	Duane retraction syndrome 3 with or without deafness (DURS3)	NC_000020.11:g.40688049del	ClinVar
RCV000240679	p.Asn268Ter	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688049del	ClinVar
NCI-TCGA novel	p.Glu269Gly	missense variant	-	NC_000020.11:g.40688045T>C	NCI-TCGA
NCI-TCGA novel	p.Thr271Met	missense variant	-	NC_000020.11:g.40688039G>A	NCI-TCGA
rs776911414	p.Glu278Gln	missense variant	-	NC_000020.11:g.40688019C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu280Arg	missense variant	-	NC_000020.11:g.40688012A>C	NCI-TCGA
rs768894136	p.Glu283Gln	missense variant	-	NC_000020.11:g.40688004C>G	ExAC,gnomAD
rs1420045448	p.Val284Met	missense variant	-	NC_000020.11:g.40688001C>T	gnomAD
rs747264525	p.Ser285Phe	missense variant	-	NC_000020.11:g.40687997G>A	ExAC,gnomAD
rs780061320	p.Arg286Gln	missense variant	-	NC_000020.11:g.40687994C>T	ExAC,gnomAD
rs1235484198	p.Arg286Gly	missense variant	-	NC_000020.11:g.40687995G>C	TOPMed
rs746015339	p.Ala288Val	missense variant	-	NC_000020.11:g.40687988G>A	ExAC,gnomAD
rs753635691	p.Arg289Gly	missense variant	-	NC_000020.11:g.40687986G>C	ExAC,TOPMed,gnomAD
rs753635691	p.Arg289Ser	missense variant	-	NC_000020.11:g.40687986G>T	ExAC,TOPMed,gnomAD
rs753635691	p.Arg289Cys	missense variant	-	NC_000020.11:g.40687986G>A	ExAC,TOPMed,gnomAD
rs538540900	p.Arg289His	missense variant	-	NC_000020.11:g.40687985C>T	TOPMed,gnomAD
rs538540900	p.Arg289Leu	missense variant	-	NC_000020.11:g.40687985C>A	TOPMed,gnomAD
rs374696286	p.Ala293Val	missense variant	-	NC_000020.11:g.40687973G>A	ESP,TOPMed,gnomAD
rs763823662	p.Ala293Thr	missense variant	-	NC_000020.11:g.40687974C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys295GlnPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.40687968_40687969insG	NCI-TCGA
rs200660283	p.Val296Ile	missense variant	-	NC_000020.11:g.40687965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313055343	p.Cys298Tyr	missense variant	-	NC_000020.11:g.40687958C>T	gnomAD
COSM4098366	p.Glu299Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40687955T>C	NCI-TCGA Cosmic
rs774066103	p.Glu299Gln	missense variant	-	NC_000020.11:g.40687956C>G	ExAC,gnomAD
rs765756336	p.Glu299Asp	missense variant	-	NC_000020.11:g.40687954C>G	ExAC,TOPMed,gnomAD
rs1302420185	p.Lys300Asn	missense variant	-	NC_000020.11:g.40687951T>A	gnomAD
rs201243960	p.Ala302Asp	missense variant	-	NC_000020.11:g.40687946G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201243960	p.Ala302Gly	missense variant	-	NC_000020.11:g.40687946G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201243960	p.Ala302Val	missense variant	-	NC_000020.11:g.40687946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777016460	p.Asn303Asp	missense variant	-	NC_000020.11:g.40687944T>C	ExAC,gnomAD
rs777016460	p.Asn303Tyr	missense variant	-	NC_000020.11:g.40687944T>A	ExAC,gnomAD
COSM1307390	p.Ser304Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40687940G>A	NCI-TCGA Cosmic
rs374680666	p.Ser304Cys	missense variant	-	NC_000020.11:g.40687940G>C	ESP,TOPMed
rs768925372	p.Ser304Ala	missense variant	-	NC_000020.11:g.40687941A>C	ExAC,TOPMed,gnomAD
rs747176764	p.Gly305Asp	missense variant	-	NC_000020.11:g.40687937C>T	ExAC,TOPMed,gnomAD
rs747176764	p.Gly305Ala	missense variant	-	NC_000020.11:g.40687937C>G	ExAC,TOPMed,gnomAD
rs1345851468	p.Arg307Thr	missense variant	-	NC_000020.11:g.40687931C>G	TOPMed
rs1178178066	p.Ala309Val	missense variant	-	NC_000020.11:g.40687925G>A	gnomAD
rs1194989294	p.Gly310Ala	missense variant	-	NC_000020.11:g.40687922C>G	gnomAD
rs772338159	p.Gly310Ser	missense variant	-	NC_000020.11:g.40687923C>T	ExAC,TOPMed,gnomAD
rs772338159	p.Gly310Arg	missense variant	-	NC_000020.11:g.40687923C>G	ExAC,TOPMed,gnomAD
rs1287265816	p.Ser311Tyr	missense variant	-	NC_000020.11:g.40687919G>T	TOPMed
rs745924706	p.Ser313Asn	missense variant	-	NC_000020.11:g.40687913C>T	ExAC,gnomAD
rs1260063911	p.Ser313Cys	missense variant	-	NC_000020.11:g.40687914T>A	gnomAD
rs1442036965	p.Ser315Ile	missense variant	-	NC_000020.11:g.40687907C>A	TOPMed
rs1483788153	p.Pro316Ser	missense variant	-	NC_000020.11:g.40687905G>A	gnomAD
rs767867839	p.Ser317Thr	missense variant	-	NC_000020.11:g.40687902A>T	gnomAD
NCI-TCGA novel	p.Pro319Ala	missense variant	-	NC_000020.11:g.40687896G>C	NCI-TCGA
rs1181209627	p.Glu320Asp	missense variant	-	NC_000020.11:g.40687891C>G	gnomAD
rs1369327527	p.Phe321Leu	missense variant	-	NC_000020.11:g.40687888G>T	TOPMed
rs770859455	p.Phe322Leu	missense variant	-	NC_000020.11:g.40687887A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003862	Arthralgia	phenotype	HPO
C0005744	Blepharophimosis	disease	HPO
C0006625	Cachexia	phenotype	HPO
C0008924	Cleft upper lip	disease	BEFREE;CTD_human
C0008925	Cleft Palate	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013261	Duane Retraction Syndrome	disease	CTD_human;ORPHANET
C0014306	Enophthalmos	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0020538	Hypertensive disease	group	HPO
C0022658	Kidney Diseases	group	HPO
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023484	Leukemia, Plasma Cell	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0025990	Micrognathism	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE;LHGDN
C0028866	Oculomotor Nerve Paralysis	phenotype	HPO
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029453	Osteopenia	disease	HPO
C0033687	Proteinuria	phenotype	HPO
C0035078	Kidney Failure	disease	HPO
C0038379	Strabismus	disease	HPO
C0235439	Ankle edema (finding)	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0241521	Ulnar deviation of hand	phenotype	HPO
C0241760	Wrist swelling	phenotype	HPO
C0242339	Dyslipidemias	group	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0423112	Short palpebral fissure	phenotype	HPO
C0423224	Sunken eyes	phenotype	HPO
C0476403	Electromyogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0575081	Gait abnormality	group	HPO
C0728829	Congenital pes cavus	disease	HPO
C0747078	Generalized osteopenia	disease	HPO
C0751083	Duane Retraction Syndrome, Type 2	disease	CLINVAR;CTD_human
C0751084	Duane Retraction Syndrome, Type 3	disease	CTD_human
C0994516	Type 1 Duane Retraction Syndrome	disease	CLINVAR;CTD_human
C1332850	Cardiac Lymphoma	disease	BEFREE
C1408258	Kidney damage	phenotype	HPO
C1565489	Renal Insufficiency	disease	HPO
C1623209	Okihiro Syndrome	disease	CTD_human
C1704423	Milroy Disease	disease	BEFREE
C1833144	Slender long bone	phenotype	HPO
C1833734	Carpal osteolysis	phenotype	HPO
C1833735	Osteolysis involving tarsal bones	phenotype	HPO
C1835884	Triangular face	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837760	Prominent eyes	phenotype	HPO
C1839604	Renal failure in adulthood	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1846462	Impaired ocular abduction	phenotype	HPO
C1846463	Impaired ocular adduction	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1854610	Metacarpal osteolysis	phenotype	HPO
C1854614	Metatarsal osteolysis	phenotype	HPO
C1855728	Low posterior hairline	phenotype	HPO
C1857108	Limitation of joint mobility	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2674705	Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025167	Abnormal vertebral segmentation and fusion	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4310752	DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS	disease	CLINVAR
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IDA
GO:0042802	identical protein binding	IEA
GO:0043565	sequence-specific DNA binding	IBA
GO:0044877	protein-containing complex binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006355	regulation of transcription, DNA-templated	IMP
GO:0007379	segment specification	IEA
GO:0007423	sensory organ development	TAS
GO:0007585	respiratory gaseous exchange by respiratory system	IEA
GO:0021571	rhombomere 5 development	IEA
GO:0021572	rhombomere 6 development	IEA
GO:0021599	abducens nerve formation	ISS
GO:0033077	T cell differentiation in thymus	IEA
GO:0035284	brain segmentation	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0045647	negative regulation of erythrocyte differentiation	IDA
GO:0045671	negative regulation of osteoclast differentiation	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048538	thymus development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005667	transcription factor complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	IEA
R-HSA-5619507	Activation of HOX genes during differentiation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of MAFB mRNA	26377693
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of MAFB mRNA	19162173
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of MAFB mRNA	29038090
C020175	16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione results in increased expression of MAFB mRNA	20519331
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of MAFB mRNA	19933214
C029141	2,2,5,7,8-pentamethyl-1-hydroxychroman	2,2,5,7,8-pentamethyl-1-hydroxychroman results in decreased expression of MAFB mRNA	21920950
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of MAFB mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of MAFB mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of MAFB mRNA	19561079
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of MAFB mRNA	19191707
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MAFB mRNA	20018196
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of MAFB mRNA	19150397; 20382639;
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of MAFB mRNA	19480007
D000082	Acetaminophen	Acetaminophen affects the expression of MAFB mRNA	25458485
D000082	Acetaminophen	Acetaminophen results in decreased expression of MAFB mRNA	22230336
D000082	Acetaminophen	Acetaminophen results in increased expression of MAFB mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MAFB mRNA	22100608; 27153756;
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MAFB mRNA	21641981
D000447	Aldehydes	Aldehydes results in increased expression of MAFB mRNA	25014914
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MAFB mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of MAFB promoter	23974009
D001194	Asbestos	Asbestos affects the expression of MAFB mRNA	17297452
C049935	avobenzone	avobenzone results in decreased expression of MAFB mRNA	31016361
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of MAFB mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MAFB mRNA	27195522
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of MAFB mRNA	23735875
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MAFB mRNA	27685785
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MAFB mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of MAFB mRNA	27685785
C006780	bisphenol A	bisphenol A affects the methylation of MAFB promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of MAFB mRNA	25594700
C006780	bisphenol A	bisphenol A results in decreased expression of MAFB mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of MAFB mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in increased expression of MAFB mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of MAFB mRNA	26485663
D002117	Calcitriol	Calcitriol results in increased expression of MAFB mRNA	16002434
D002220	Carbamazepine	Carbamazepine affects the expression of MAFB mRNA	25979313
D002220	Carbamazepine	Carbamazepine affects the expression of MAFB mRNA	22634333
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of MAFB mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of MAFB mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of MAFB mRNA]	31150632
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MAFB gene	20938992
D002922	Ciguatoxins	Ciguatoxins affects the expression of MAFB mRNA	18353800
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of MAFB mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of MAFB mRNA	27392435
D003300	Copper	[Disulfiram binds to Copper] which results in decreased expression of MAFB mRNA	24690739
D019327	Copper Sulfate	Copper Sulfate results in increased expression of MAFB mRNA	19549813
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of MAFB mRNA	18579281
D003471	Cuprizone	Cuprizone results in increased expression of MAFB mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of MAFB mRNA	27989131
C093628	cyproconazole	cyproconazole results in decreased expression of MAFB mRNA	22664269
D004041	Dietary Fats	Dietary Fats results in decreased expression of MAFB mRNA	30120929
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of MAFB mRNA	19041683
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of MAFB mRNA	15171707
C051904	dinophysistoxin 1	dinophysistoxin 1 results in increased expression of MAFB mRNA	21853993; 28939011;
D004221	Disulfiram	Disulfiram results in decreased expression of MAFB mRNA	20530235
D004221	Disulfiram	[Disulfiram binds to Copper] which results in decreased expression of MAFB mRNA	24690739
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of MAFB mRNA	30031762
D013759	Dronabinol	Dronabinol results in increased expression of MAFB mRNA	17578508
C118739	entinostat	entinostat results in decreased expression of MAFB mRNA	26272509
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of MAFB mRNA	20660070
D004958	Estradiol	Estradiol results in increased expression of MAFB mRNA	19484750
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of MAFB mRNA	28189721
C000499	ferric oxide	ferric oxide analog results in increased expression of MAFB mRNA	24525745
D005419	Flavonoids	Flavonoids results in increased expression of MAFB mRNA	18035473
C061365	flusilazole	flusilazole affects the expression of MAFB mRNA	22634333
C061365	flusilazole	flusilazole results in decreased expression of MAFB mRNA	22664269; 28263823;
D005485	Flutamide	Flutamide results in decreased expression of MAFB mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MAFB gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of MAFB mRNA	17938736; 20655997;
C039281	furan	furan results in decreased expression of MAFB mRNA	26194646
C106014	gedunin	gedunin results in decreased expression of MAFB mRNA	17010675
D019833	Genistein	Genistein results in increased expression of MAFB mRNA	18847459; 20884965;
D005897	Glafenine	Glafenine results in decreased expression of MAFB mRNA	24136188
D005944	Glucosamine	Glucosamine results in increased expression of MAFB mRNA	17109745
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of MAFB mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of MAFB mRNA	25307878
C533894	LG 100815	LG 100815 results in decreased expression of MAFB mRNA	16951191
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of MAFB mRNA	25890327
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of MAFB mRNA	10975854; 12057914;
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of MAFB mRNA	21641980
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MAFB gene	20938992
D008727	Methotrexate	Methotrexate affects the expression of MAFB mRNA	18502557
D008752	Methylene Chloride	Methylene Chloride results in increased expression of MAFB mRNA	28392392
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MAFB mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MAFB mRNA	23179753
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of MAFB mRNA	29191790
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of MAFB mRNA	20024957
C523799	MRK 003	MAFB results in increased susceptibility to MRK 003	19903844
C044361	M-VAC protocol	MAFB protein results in increased susceptibility to M-VAC protocol	15814643
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of MAFB mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog affects the expression of MAFB mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MAFB mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MAFB mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MAFB mRNA	25554681
D009281	Naphthalenes	Naphthalenes results in increased expression of MAFB protein	17337753
C051752	nefazodone	nefazodone results in decreased expression of MAFB mRNA	24136188
D009532	Nickel	Nickel affects the expression of MAFB mRNA	14575637
D009532	Nickel	trichostatin A inhibits the reaction [Nickel affects the expression of MAFB mRNA]	14575637
C028007	nickel monoxide	nickel monoxide results in increased expression of MAFB mRNA	19167457
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in decreased expression of MAFB mRNA	16951191
C018620	oleoresins	oleoresins results in decreased expression of MAFB mRNA	20008804
C016340	o,p'-DDT	o,p'-DDT results in increased expression of MAFB mRNA	24096037
D009966	Orphenadrine	Orphenadrine affects the expression of MAFB mRNA	23665939
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of MAFB mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MAFB mRNA	30529165
D000077767	Panobinostat	Panobinostat results in increased expression of MAFB mRNA	26272509
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of MAFB mRNA	18593933
C046012	pentanal	pentanal results in increased expression of MAFB mRNA	26079696
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of MAFB mRNA]	19482888
D010634	Phenobarbital	Phenobarbital affects the expression of MAFB mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of MAFB mRNA	19270015; 19482888;
D010634	Phenobarbital	Phenobarbital results in increased expression of MAFB mRNA	19270015
D010634	Phenobarbital	Phenobarbital results in increased expression of MAFB mRNA	19162173
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of MAFB mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MAFB mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of MAFB mRNA	17426115; 23811191;
C006253	pirinixic acid	pirinixic acid results in increased expression of MAFB mRNA	18445702
D010938	Plant Oils	Plant Oils results in increased expression of MAFB mRNA	23370395
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of MAFB mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of MAFB mRNA	20660070
C005556	propionaldehyde	propionaldehyde results in increased expression of MAFB mRNA	26079696
C010313	pseudocumene	pseudocumene results in increased expression of MAFB protein	17337753
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of MAFB mRNA]	31150632
D012715	Sesame Oil	Sesame Oil results in increased expression of MAFB mRNA	29191790
D000077149	Sevoflurane	Sevoflurane affects the expression of MAFB mRNA	15967596
D012834	Silver	Silver results in increased expression of MAFB mRNA	26014281
D012834	Silver	Silver results in decreased expression of MAFB mRNA	27131904
C009277	sodium arsenate	sodium arsenate results in decreased expression of MAFB mRNA	16882884
C017947	sodium arsenite	sodium arsenite results in decreased expression of MAFB mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in increased expression of MAFB mRNA	22561333
D012999	Soman	Soman results in increased expression of MAFB mRNA	19281266
D053260	Soot	Soot results in increased expression of MAFB mRNA	22461453
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of MAFB mRNA	21641980
D000077210	Sunitinib	Sunitinib results in increased expression of MAFB mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of MAFB mRNA	20937368
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of MAFB mRNA	27509014
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased methylation of MAFB gene	27509014
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MAFB mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MAFB mRNA	17517823; 19692669;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MAFB mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to MAFB gene]	28213091
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MAFB mRNA	19933214
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MAFB mRNA	17275934
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MAFB mRNA	21215274
D013849	Thimerosal	Thimerosal results in increased expression of MAFB mRNA	16870260
D013853	Thioacetamide	Thioacetamide results in decreased expression of MAFB mRNA	23411599
D013893	Thiram	Thiram results in decreased expression of MAFB mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in decreased expression of MAFB mRNA	29264374
C009495	titanium dioxide	titanium dioxide results in increased expression of MAFB mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of MAFB mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of MAFB mRNA	20133372
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of MAFB mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of MAFB mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of MAFB mRNA	20530235
D014212	Tretinoin	Tretinoin results in decreased expression of MAFB mRNA	23830798
D014212	Tretinoin	Tretinoin results in increased expression of MAFB mRNA	21934132; 23724009;
D014212	Tretinoin	Tretinoin results in decreased expression of MAFB mRNA	20488242; 22664269;
C032910	triadimefon	triadimefon results in decreased expression of MAFB mRNA	22664269
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MAFB mRNA	27188386
C012589	trichostatin A	trichostatin A inhibits the reaction [Nickel affects the expression of MAFB mRNA]	14575637
C012589	trichostatin A	trichostatin A results in increased expression of MAFB mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of MAFB mRNA	30510588
C050414	tripterine	tripterine results in decreased expression of MAFB mRNA	17010675
D014415	Tunicamycin	Tunicamycin results in increased expression of MAFB mRNA	29453283
D014520	Urethane	Urethane results in increased expression of MAFB mRNA	28818685
C406224	valdecoxib	valdecoxib results in decreased expression of MAFB mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of MAFB mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of MAFB mRNA	23179753; 29154799;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of MAFB gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of MAFB mRNA	23179753; 24935251; 27188386;
D014635	Valproic Acid	Valproic Acid affects the expression of MAFB mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of MAFB gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of MAFB mRNA	26272509
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of MAFB mRNA	18593933
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of MAFB mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0539	Nucleus
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0043	Tumor suppressor
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR004827	bZIP
IPR004826	bZIP_Maf
IPR013592	Maf_TF_N
IPR028571	MafB
IPR008917	TF_DNA-bd_sf
IPR024874	Transcription_factor_Maf_fam

PROSITE

PROSITE ID	PROSITE Term
PS50217	BZIP

Pfam

Pfam ID	Pfam Term
PF03131	bZIP_Maf
PF08383	Maf_N

Gene: MAFB

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction