CleftGeneDB-Search

Gene: DLX1

Basic information

Tag	Content
Uniprot ID	P56177; D3DPD7; Q53ZU4; Q7Z724; Q8IYB2;
Entrez ID	1745
Genbank protein ID	AAH53351.1; EAX11185.1; EAX11187.1; AAO91939.1; AAH36189.2;
Genbank nucleotide ID	NM_178120.4; NM_001038493.1;
Ensembl protein ID	ENSP00000341786; ENSP00000354478;
Ensembl nucleotide ID	ENSG00000144355
Gene name	Homeobox protein DLX-1
Gene symbol	DLX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	25463899
Functional description	Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity).
Sequence	MTMTTMPESL NSPVSGKAVF MEFGPPNQQM SPSPMSHGHY SMHCLHSAGH SQPDGAYSSA 60 SSFSRPLGYP YVNSVSSHAS SPYISSVQSY PGSASLAQSR LEDPGADSEK STVVEGGEVR 120 FNGKGKKIRK PRTIYSSLQL QALNRRFQQT QYLALPERAE LAASLGLTQT QVKIWFQNKR 180 SKFKKLMKQG GAALEGSALA NGRALSAGSP PVPPGWNPNS SSGKGSGGNA GSYIPSYTSW 240 YPSAHQEAMQ QPQLM 255

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 information

Gene expression in different tissues (GTEx V7)

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	DLX1	521806	A6H733		Bos taurus	Prediction	More>>
1:1 ortholog	DLX1		E2RFM6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DLX1	102187006	A0A452EKR5		Capra hircus	Prediction	More>>
1:1 ortholog	DLX1	100053103	F6QWX6		Equus caballus	Prediction	More>>
1:1 ortholog	DLX1	1745	P56177		Homo sapiens	Publication	More>>
1:1 ortholog	Dlx1	13390	Q64317	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DLX1		A0A2I3S2E5		Pan troglodytes	Prediction	More>>
1:1 ortholog		100522648	A0A4X1V5H4		Sus scrofa	Prediction	More>>
1:1 ortholog	DLX1	100348143	G1SK87		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Dlx1	296500	G3V669		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dlx1a	30568	Q98875		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
DLX1	rs788173G>A	real time-PCR; TDT	25463899

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs745500906	p.Thr2Ile	missense variant	-	NC_000002.12:g.172085682C>T	ExAC,gnomAD
COSM4086773	p.Met3Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085685T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr4Ser	missense variant	-	NC_000002.12:g.172085688C>G	NCI-TCGA
rs1045343815	p.Leu10Arg	missense variant	-	NC_000002.12:g.172085706T>G	TOPMed
NCI-TCGA novel	p.Leu10Phe	missense variant	-	NC_000002.12:g.172085705C>T	NCI-TCGA
rs1418085191	p.Asn11Asp	missense variant	-	NC_000002.12:g.172085708A>G	gnomAD
rs1200622733	p.Asn11Lys	missense variant	-	NC_000002.12:g.172085710C>A	gnomAD
rs1431842655	p.Ser12Asn	missense variant	-	NC_000002.12:g.172085712G>A	gnomAD
rs1468732626	p.Pro13Ser	missense variant	-	NC_000002.12:g.172085714C>T	gnomAD
rs961436892	p.Val14Leu	missense variant	-	NC_000002.12:g.172085717G>T	gnomAD
rs961436892	p.Val14Leu	missense variant	-	NC_000002.12:g.172085717G>C	gnomAD
rs961436892	p.Val14Met	missense variant	-	NC_000002.12:g.172085717G>A	gnomAD
rs768424631	p.Lys17Arg	missense variant	-	NC_000002.12:g.172085727A>G	ExAC,gnomAD
rs776516857	p.Val19Ala	missense variant	-	NC_000002.12:g.172085733T>C	ExAC,TOPMed,gnomAD
rs1347202723	p.Phe20Val	missense variant	-	NC_000002.12:g.172085735T>G	gnomAD
rs1221439628	p.Met21Thr	missense variant	-	NC_000002.12:g.172085739T>C	gnomAD
rs1300579344	p.Gly24Ala	missense variant	-	NC_000002.12:g.172085748G>C	gnomAD
rs761445680	p.Pro25Gln	missense variant	-	NC_000002.12:g.172085751C>A	ExAC,gnomAD
rs1249056203	p.Asn27Thr	missense variant	-	NC_000002.12:g.172085757A>C	TOPMed,gnomAD
rs1249056203	p.Asn27Ser	missense variant	-	NC_000002.12:g.172085757A>G	TOPMed,gnomAD
rs759727510	p.Met30Lys	missense variant	-	NC_000002.12:g.172085766T>A	ExAC,gnomAD
rs1270557986	p.Met30Ile	missense variant	-	NC_000002.12:g.172085767G>T	gnomAD
COSM4086774	p.Met30Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085766T>C	NCI-TCGA Cosmic
rs1479690750	p.Ser31Thr	missense variant	-	NC_000002.12:g.172085768T>A	gnomAD
NCI-TCGA novel	p.Ser31Tyr	missense variant	-	NC_000002.12:g.172085769C>A	NCI-TCGA
rs752675263	p.Pro34Ser	missense variant	-	NC_000002.12:g.172085777C>T	ExAC,gnomAD
rs1168453209	p.Pro34Leu	missense variant	-	NC_000002.12:g.172085778C>T	gnomAD
rs756676482	p.Met35Thr	missense variant	-	NC_000002.12:g.172085781T>C	ExAC,TOPMed,gnomAD
rs377533627	p.His37Gln	missense variant	-	NC_000002.12:g.172085788C>G	ESP,ExAC,TOPMed,gnomAD
rs754243945	p.Gly38Arg	missense variant	-	NC_000002.12:g.172085789G>A	ExAC,TOPMed,gnomAD
rs754243945	p.Gly38Trp	missense variant	-	NC_000002.12:g.172085789G>T	ExAC,TOPMed,gnomAD
rs757622093	p.His39Arg	missense variant	-	NC_000002.12:g.172085793A>G	ExAC,gnomAD
rs745554362	p.Ala48Pro	missense variant	-	NC_000002.12:g.172085819G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp54Glu	missense variant	-	NC_000002.12:g.172085839C>A	NCI-TCGA
rs746459212	p.Gly55Ser	missense variant	-	NC_000002.12:g.172085840G>A	ExAC,gnomAD
rs776371692	p.Ala56Thr	missense variant	-	NC_000002.12:g.172085843G>A	ExAC,TOPMed,gnomAD
rs776371692	p.Ala56Ser	missense variant	-	NC_000002.12:g.172085843G>T	ExAC,TOPMed,gnomAD
rs1489680807	p.Ser58Gly	missense variant	-	NC_000002.12:g.172085849A>G	gnomAD
rs370746183	p.Ser59Ala	missense variant	-	NC_000002.12:g.172085852T>G	ESP
rs772973657	p.Ala60Val	missense variant	-	NC_000002.12:g.172085856C>T	ExAC,gnomAD
rs772973657	p.Ala60Gly	missense variant	-	NC_000002.12:g.172085856C>G	ExAC,gnomAD
rs1030164191	p.Ser61Trp	missense variant	-	NC_000002.12:g.172085859C>G	TOPMed
rs1445372863	p.Arg65Leu	missense variant	-	NC_000002.12:g.172085871G>T	gnomAD
rs775644107	p.Pro66Arg	missense variant	-	NC_000002.12:g.172085874C>G	ExAC,gnomAD
rs1165545209	p.Pro66Ser	missense variant	-	NC_000002.12:g.172085873C>T	gnomAD
rs764222229	p.Leu67Val	missense variant	-	NC_000002.12:g.172085876C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro70Ser	missense variant	-	NC_000002.12:g.172085885C>T	NCI-TCGA
NCI-TCGA novel	p.Ser77Ile	missense variant	-	NC_000002.12:g.172085907G>T	NCI-TCGA
rs750767486	p.His78Gln	missense variant	-	NC_000002.12:g.172085911C>A	ExAC,gnomAD
rs758150939	p.Ala79Ser	missense variant	-	NC_000002.12:g.172085912G>T	ExAC,gnomAD
rs758150939	p.Ala79Thr	missense variant	-	NC_000002.12:g.172085912G>A	ExAC,gnomAD
rs1268925130	p.Ser80Pro	missense variant	-	NC_000002.12:g.172085915T>C	TOPMed
rs1284481950	p.Tyr83His	missense variant	-	NC_000002.12:g.172085924T>C	TOPMed,gnomAD
rs141673847	p.Ile84Val	missense variant	-	NC_000002.12:g.172085927A>G	ESP,ExAC,TOPMed,gnomAD
rs374426875	p.Ser85Asn	missense variant	-	NC_000002.12:g.172085931G>A	ESP,ExAC,gnomAD
rs1416804461	p.Val87Met	missense variant	-	NC_000002.12:g.172085936G>A	gnomAD
rs1286746789	p.Ser89Pro	missense variant	-	NC_000002.12:g.172085942T>C	TOPMed
rs1472610182	p.Pro91Arg	missense variant	-	NC_000002.12:g.172085949C>G	gnomAD
rs780725545	p.Pro91Ala	missense variant	-	NC_000002.12:g.172085948C>G	ExAC,TOPMed,gnomAD
rs1402292318	p.Ser95Ile	missense variant	-	NC_000002.12:g.172085961G>T	TOPMed,gnomAD
rs920037932	p.Ala97Ser	missense variant	-	NC_000002.12:g.172085966G>T	TOPMed,gnomAD
rs1379991738	p.Arg100His	missense variant	-	NC_000002.12:g.172085976G>A	gnomAD
rs769673494	p.Arg100Cys	missense variant	-	NC_000002.12:g.172085975C>T	ExAC,gnomAD
COSM4086775	p.Leu101Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085978C>G	NCI-TCGA Cosmic
rs1289931029	p.Glu102Lys	missense variant	-	NC_000002.12:g.172085981G>A	TOPMed
rs756053801	p.Ala106Pro	missense variant	-	NC_000002.12:g.172086656G>C	ExAC,gnomAD
rs1168016460	p.Ser111Gly	missense variant	-	NC_000002.12:g.172086671A>G	gnomAD
rs1273928670	p.Ser111Arg	missense variant	-	NC_000002.12:g.172086673C>A	gnomAD
rs1322206937	p.Val113Met	missense variant	-	NC_000002.12:g.172086677G>A	gnomAD
NCI-TCGA novel	p.Val114Leu	missense variant	-	NC_000002.12:g.172086680G>T	NCI-TCGA
rs747241111	p.Gly116Ser	missense variant	-	NC_000002.12:g.172086686G>A	ExAC,gnomAD
rs1365800722	p.Gly117Asp	missense variant	-	NC_000002.12:g.172086690G>A	gnomAD
NCI-TCGA novel	p.Glu118Asp	missense variant	-	NC_000002.12:g.172086694A>C	NCI-TCGA
rs1321917026	p.Arg120Ser	missense variant	-	NC_000002.12:g.172086698C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly125Glu	missense variant	-	NC_000002.12:g.172086714G>A	NCI-TCGA
NCI-TCGA novel	p.Lys127ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.172086715A>-	NCI-TCGA
NCI-TCGA novel	p.Ile128Leu	missense variant	-	NC_000002.12:g.172086722A>C	NCI-TCGA
NCI-TCGA novel	p.Ile134Leu	missense variant	-	NC_000002.12:g.172086740A>C	NCI-TCGA
NCI-TCGA novel	p.Ile134Met	missense variant	-	NC_000002.12:g.172086742T>G	NCI-TCGA
rs17853565	p.Ser136Cys	missense variant	-	NC_000002.12:g.172086747C>G	-
rs17853565	p.Ser136Cys	missense variant	-	NC_000002.12:g.172086747C>G	UniProt,dbSNP
VAR_028443	p.Ser136Cys	missense variant	-	NC_000002.12:g.172086747C>G	UniProt
rs200145287	p.Ser137Asn	missense variant	-	NC_000002.12:g.172086750G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu140Ser	missense variant	-	NC_000002.12:g.172086759T>C	NCI-TCGA
rs1258669882	p.Asn144Ser	missense variant	-	NC_000002.12:g.172086771A>G	gnomAD
rs1224459219	p.Arg145Gln	missense variant	-	NC_000002.12:g.172086774G>A	gnomAD
NCI-TCGA novel	p.Glu157Asp	missense variant	-	NC_000002.12:g.172086811G>T	NCI-TCGA
NCI-TCGA novel	p.Glu157Asp	missense variant	-	NC_000002.12:g.172086811G>C	NCI-TCGA
rs751903911	p.Glu160Asp	missense variant	-	NC_000002.12:g.172086820G>T	ExAC,TOPMed,gnomAD
rs759144022	p.Leu161Val	missense variant	-	NC_000002.12:g.172086821C>G	ExAC,gnomAD
rs1194192200	p.Ser164Cys	missense variant	-	NC_000002.12:g.172086831C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu165GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.172086832_172086833TT>-	NCI-TCGA
rs1026206196	p.Thr168Ile	missense variant	-	NC_000002.12:g.172086843C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr168Ala	missense variant	-	NC_000002.12:g.172086842A>G	NCI-TCGA
rs751413970	p.Val172Ile	missense variant	-	NC_000002.12:g.172088003G>A	ExAC,gnomAD
rs1226930755	p.Phe176Tyr	missense variant	-	NC_000002.12:g.172088016T>A	gnomAD
NCI-TCGA novel	p.Arg180Ter	missense variant	-	NC_000002.12:g.172088027C>T	NCI-TCGA
rs1221030903	p.Lys182Asn	missense variant	-	NC_000002.12:g.172088035G>T	gnomAD
NCI-TCGA novel	p.Phe183Cys	missense variant	-	NC_000002.12:g.172088037T>G	NCI-TCGA
rs376171844	p.Met187Ile	missense variant	-	NC_000002.12:g.172088050G>A	ESP,ExAC,TOPMed,gnomAD
rs768152552	p.Met187ThrLeuValGlnGluTrpPheTerIleGlnArgGluValGlnGlnAsnLeu	stop gained	-	NC_000002.12:g.172088048_172088049insCACTAGTGCAAGAATGGTTTTGAATCCAAAGAGAAGTTCAGCAAAACC	ExAC
rs1040620446	p.Ala192Glu	missense variant	-	NC_000002.12:g.172088064C>A	TOPMed,gnomAD
rs1040620446	p.Ala192Val	missense variant	-	NC_000002.12:g.172088064C>T	TOPMed,gnomAD
rs1442095232	p.Ala192Ser	missense variant	-	NC_000002.12:g.172088063G>T	gnomAD
COSM6088357	p.Ala192Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088063G>C	NCI-TCGA Cosmic
rs138502787	p.Ser197Gly	missense variant	-	NC_000002.12:g.172088078A>G	ESP,ExAC,TOPMed,gnomAD
rs1258981343	p.Ser197Thr	missense variant	-	NC_000002.12:g.172088079G>C	TOPMed
rs1478285655	p.Ala198Val	missense variant	-	NC_000002.12:g.172088082C>T	gnomAD
rs898067787	p.Ala198Thr	missense variant	-	NC_000002.12:g.172088081G>A	TOPMed
rs1173850140	p.Ala200Thr	missense variant	-	NC_000002.12:g.172088087G>A	gnomAD
rs779074889	p.Ala200Val	missense variant	-	NC_000002.12:g.172088088C>T	ExAC,TOPMed,gnomAD
rs1168898692	p.Asn201Ser	missense variant	-	NC_000002.12:g.172088091A>G	gnomAD
rs758908128	p.Arg203Pro	missense variant	-	NC_000002.12:g.172088097G>C	ExAC,gnomAD
rs1458562472	p.Gly208Val	missense variant	-	NC_000002.12:g.172088112G>T	TOPMed,gnomAD
rs747497909	p.Pro210Ala	missense variant	-	NC_000002.12:g.172088117C>G	ExAC,gnomAD
COSM4896813	p.Pro210Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088117C>T	NCI-TCGA Cosmic
rs1273553981	p.Pro211His	missense variant	-	NC_000002.12:g.172088121C>A	TOPMed,gnomAD
rs1215230348	p.Val212Leu	missense variant	-	NC_000002.12:g.172088123G>T	gnomAD
rs747883157	p.Pro213Leu	missense variant	-	NC_000002.12:g.172088127C>T	ExAC,gnomAD
rs1250744657	p.Gly215Cys	missense variant	-	NC_000002.12:g.172088132G>T	gnomAD
rs1250744657	p.Gly215Ser	missense variant	-	NC_000002.12:g.172088132G>A	gnomAD
rs199592485	p.Pro218Thr	missense variant	-	NC_000002.12:g.172088141C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244895794	p.Pro218Leu	missense variant	-	NC_000002.12:g.172088142C>T	gnomAD
NCI-TCGA novel	p.Pro218Ser	missense variant	-	NC_000002.12:g.172088141C>T	NCI-TCGA
rs774501591	p.Asn219Asp	missense variant	-	NC_000002.12:g.172088144A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn219Thr	missense variant	-	NC_000002.12:g.172088145A>C	NCI-TCGA
rs759519725	p.Ser221Ala	missense variant	-	NC_000002.12:g.172088150T>G	ExAC,gnomAD
rs1394180707	p.Ser222Phe	missense variant	-	NC_000002.12:g.172088154C>T	TOPMed
rs767472300	p.Ser222Thr	missense variant	-	NC_000002.12:g.172088153T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser222AspPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.172088151_172088152insTG	NCI-TCGA
rs927180879	p.Gly223Arg	missense variant	-	NC_000002.12:g.172088156G>A	TOPMed
NCI-TCGA novel	p.Gly223Glu	missense variant	-	NC_000002.12:g.172088157G>A	NCI-TCGA
rs1419038406	p.Gly225Ala	missense variant	-	NC_000002.12:g.172088163G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser226Ala	missense variant	-	NC_000002.12:g.172088165T>G	NCI-TCGA
rs960341904	p.Gly228Val	missense variant	-	NC_000002.12:g.172088172G>T	gnomAD
COSM3570014	p.Gly228Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088172G>A	NCI-TCGA Cosmic
rs1401140731	p.Ala230Val	missense variant	-	NC_000002.12:g.172088178C>T	gnomAD
rs1172559031	p.Ala230Thr	missense variant	-	NC_000002.12:g.172088177G>A	gnomAD
rs1322214897	p.Gly231Ser	missense variant	-	NC_000002.12:g.172088180G>A	gnomAD
rs750525757	p.Ile234Val	missense variant	-	NC_000002.12:g.172088189A>G	ExAC,gnomAD
rs1363322593	p.Pro235Ser	missense variant	-	NC_000002.12:g.172088192C>T	TOPMed,gnomAD
rs752100178	p.Ser236Asn	missense variant	-	NC_000002.12:g.172088196G>A	ExAC,gnomAD
rs377685238	p.Ser236Arg	missense variant	-	NC_000002.12:g.172088197C>A	ESP,TOPMed,gnomAD
rs1356859511	p.Tyr237Cys	missense variant	-	NC_000002.12:g.172088199A>G	gnomAD
rs1211408844	p.Thr238Lys	missense variant	-	NC_000002.12:g.172088202C>A	TOPMed,gnomAD
COSM244057	p.Ser239Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088205C>T	NCI-TCGA Cosmic
COSM4086776	p.Trp240Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088207T>C	NCI-TCGA Cosmic
rs1450905549	p.Pro242Leu	missense variant	-	NC_000002.12:g.172088214C>T	gnomAD
rs1188668689	p.Ala244Val	missense variant	-	NC_000002.12:g.172088220C>T	gnomAD
rs748395831	p.Ala248Ser	missense variant	-	NC_000002.12:g.172088231G>T	ExAC,gnomAD
rs777348613	p.Pro252Ser	missense variant	-	NC_000002.12:g.172088243C>T	ExAC,gnomAD
rs1275261201	p.Leu254Ile	missense variant	-	NC_000002.12:g.172088249C>A	TOPMed,gnomAD
rs1323098440	p.Leu254Pro	missense variant	-	NC_000002.12:g.172088250T>C	gnomAD
rs1374760175	p.Met255Leu	missense variant	-	NC_000002.12:g.172088252A>C	TOPMed
rs1386607248	p.Ter256Trp	stop lost	-	NC_000002.12:g.172088257A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004352	Autistic Disorder	group	BEFREE;CTD_human;LHGDN
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0014544	Epilepsy	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0033975	Psychotic Disorders	group	BEFREE;PSYGENET
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0239337	Deformity of limb	group	BEFREE
C0349204	Nonorganic psychosis	disease	BEFREE;PSYGENET
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE;CTD_human
C3714756	Intellectual Disability	group	BEFREE

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:0003682	chromatin binding	IEA
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0009954	proximal/distal pattern formation	IEA
GO:0021544	subpallium development	IEA
GO:0021766	hippocampus development	IEA
GO:0021882	regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment	IEA
GO:0021893	cerebral cortex GABAergic interneuron fate commitment	IEA
GO:0030154	cell differentiation	IBA
GO:0030514	negative regulation of BMP signaling pathway	IMP
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0043524	negative regulation of neuron apoptotic process	IEA
GO:0045597	positive regulation of cell differentiation	ISS
GO:0045746	negative regulation of Notch signaling pathway	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0046533	negative regulation of photoreceptor cell differentiation	ISS
GO:0048706	embryonic skeletal system development	IEA
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA
GO:0071560	cellular response to transforming growth factor beta stimulus	IMP
GO:0071773	cellular response to BMP stimulus	IMP
GO:1902871	positive regulation of amacrine cell differentiation	ISS
GO:1903845	negative regulation of cellular response to transforming growth factor beta stimulus	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C046760	15-acetyldeoxynivalenol	15-acetyldeoxynivalenol results in increased expression of DLX1 mRNA	23792671
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of DLX1 mRNA	28801915
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 DLX1 mRNA	19933214
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 DLX1 mRNA	27188386
C106812	adefovir dipivoxil	adefovir dipivoxil results in decreased expression of DLX1 mRNA	25596134
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DLX1 gene	27153756
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in decreased expression of DLX1 mRNA	26680231
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of DLX1 mRNA	24449571
D001104	Arbutin	Arbutin results in decreased expression of DLX1 mRNA	17103032
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DLX1 mRNA	26705709
C015001	arsenite	arsenite results in increased methylation of DLX1 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of DLX1 mRNA	25929836
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of DLX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of DLX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of DLX1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in decreased expression of DLX1 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of DLX1 mRNA	25596134
C004656	chloroacetaldehyde	chloroacetaldehyde results in decreased expression of DLX1 mRNA	25596134
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DLX1 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of DLX1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of DLX1 mRNA	25596134; 27392435;
D002945	Cisplatin	Cisplatin results in increased expression of DLX1 mRNA	27594783
D003471	Cuprizone	Cuprizone results in increased expression of DLX1 mRNA	26577399
C000541	cyclopamine	cyclopamine results in decreased expression of DLX1 mRNA	20865013
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of DLX1 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 DLX1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of DLX1 mRNA	30165855
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DLX1 gene	20938992
D007069	Ifosfamide	Ifosfamide results in decreased expression of DLX1 mRNA	25596134
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of DLX1 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of DLX1 mRNA	27392435
C011890	kojic acid	kojic acid results in decreased expression of DLX1 mRNA	16595896
D008694	Methamphetamine	Methamphetamine results in decreased expression of DLX1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DLX1 gene	20938992
D008767	Methylmercury Compounds	Methylmercury Compounds affects the expression of DLX1 mRNA	21664453
C029938	nickel sulfate	nickel sulfate results in increased expression of DLX1 mRNA	22714537
D010100	Oxygen	Oxygen deficiency results in decreased expression of DLX1 mRNA	25596134
D010936	Plant Extracts	Plant Extracts results in decreased expression of DLX1 mRNA	23557933
D011441	Propylthiouracil	Propylthiouracil results in increased expression of DLX1 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in decreased expression of DLX1 mRNA	27029645
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of DLX1 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of DLX1 mRNA	22714537; 28595984;
C016104	sodium bichromate	sodium bichromate affects the expression of DLX1 mRNA	22110744
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLX1 mRNA	20106945; 21632981; 22903824;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DLX1 mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DLX1 mRNA	17586704; 19933214;
D014118	Toxins, Biological	Toxins, Biological affects the expression of DLX1 mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of DLX1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in decreased expression of DLX1 protein	17551590
D014212	Tretinoin	Tretinoin results in decreased expression of DLX1 mRNA	22262565
C012589	trichostatin A	trichostatin A affects the expression of DLX1 mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of DLX1 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of DLX1 mRNA	26179874
D014520	Urethane	Urethane results in increased expression of DLX1 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 DLX1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of DLX1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of DLX1 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased expression of DLX1 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of DLX1 gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of DLX1 mRNA	23869203
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of DLX1 mRNA	25596134

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa
IPR000047	HTH_motif

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: DLX1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

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