CleftGeneDB-Search

Gene: DLX2

Basic information

Tag	Content
Uniprot ID	Q07687; B4DMK4; B7ZA14;
Entrez ID	1746
Genbank protein ID	BAH14500.1; AAA19663.1; BAG59916.1; AAH32558.1; AAB40902.1;
Genbank nucleotide ID	NM_004405.3
Ensembl protein ID	ENSP00000446904; ENSP00000234198;
Ensembl nucleotide ID	ENSG00000115844
Gene name	Homeobox protein DLX-2
Gene symbol	DLX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.
Sequence	MTGVFDSLVA DMHSTQIAAS STYHQHQQPP SGGGAGPGGN SSSSSSLHKP QESPTLPVST 60 ATDSSYYTNQ QHPAGGGGGG GSPYAHMGSY QYQASGLNNV PYSAKSSYDL GYTAAYTSYA 120 PYGTSSSPAN NEPEKEDLEP EIRIVNGKPK KVRKPRTIYS SFQLAALQRR FQKTQYLALP 180 ERAELAASLG LTQTQVKIWF QNRRSKFKKM WKSGEIPSEQ HPGASASPPC ASPPVSAPAS 240 WDFGVPQRMA GGGGPGSGGS GAGSSGSSPS SAASAFLGNY PWYHQTSGSA SHLQATAPLL 300 HPTQTPQPHH HHHHHGGGGA PVSAGTIF 328

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	DLX2	528490	E1BCF7		Bos taurus	Prediction	More>>
1:1 ortholog	DLX2	100856541	E2R5E5		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DLX2	102188447	A0A452FZW1		Capra hircus	Prediction	More>>
1:1 ortholog	DLX2	1746	Q07687		Homo sapiens	Prediction	More>>
1:1 ortholog	Dlx2	13392	P40764	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DLX2	459741	K7AA60		Pan troglodytes	Prediction	More>>
1:1 ortholog	DLX2	100523029	F1S082		Sus scrofa	Prediction	More>>
1:1 ortholog	Dlx2	296499	G3V668		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dlx2a	30574	F6NKE2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1355995522	p.Asp6Glu	missense variant	-	NC_000002.12:g.172102521G>T	TOPMed
rs753039823	p.Ser7Asn	missense variant	-	NC_000002.12:g.172102519C>T	ExAC,gnomAD
rs1443105301	p.Val9Ala	missense variant	-	NC_000002.12:g.172102513A>G	gnomAD
COSM1482186	p.Ser14Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102498G>A	NCI-TCGA Cosmic
rs893585790	p.Thr15Asn	missense variant	-	NC_000002.12:g.172102495G>T	gnomAD
rs1292781921	p.Ala18Thr	missense variant	-	NC_000002.12:g.172102487C>T	TOPMed
rs1328713997	p.Ala19Ser	missense variant	-	NC_000002.12:g.172102484C>A	gnomAD
rs1227544646	p.Ser21Arg	missense variant	-	NC_000002.12:g.172102478T>G	TOPMed
rs1422322241	p.Thr22Met	missense variant	-	NC_000002.12:g.172102474G>A	gnomAD
rs767804470	p.Tyr23His	missense variant	-	NC_000002.12:g.172102472A>G	ExAC,gnomAD
rs1195115949	p.Gln25His	missense variant	-	NC_000002.12:g.172102464C>A	TOPMed,gnomAD
rs1195115949	p.Gln25His	missense variant	-	NC_000002.12:g.172102464C>G	TOPMed,gnomAD
rs760065647	p.Gln25Arg	missense variant	-	NC_000002.12:g.172102465T>C	ExAC,TOPMed,gnomAD
rs1468496097	p.His26Tyr	missense variant	-	NC_000002.12:g.172102463G>A	gnomAD
rs1202310127	p.Pro29Leu	missense variant	-	NC_000002.12:g.172102453G>A	gnomAD
NCI-TCGA novel	p.Pro30ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.172102450G>-	NCI-TCGA
rs928131621	p.Pro30Thr	missense variant	-	NC_000002.12:g.172102451G>T	TOPMed,gnomAD
rs928131621	p.Pro30Ser	missense variant	-	NC_000002.12:g.172102451G>A	TOPMed,gnomAD
rs1233281377	p.Ser31Asn	missense variant	-	NC_000002.12:g.172102447C>T	gnomAD
rs1345469741	p.Ser31Arg	missense variant	-	NC_000002.12:g.172102446G>T	gnomAD
rs1189302391	p.Gly32Ser	missense variant	-	NC_000002.12:g.172102445C>T	TOPMed
rs1236798470	p.Gly33Arg	missense variant	-	NC_000002.12:g.172102442C>G	gnomAD
rs996627276	p.Gly34Cys	missense variant	-	NC_000002.12:g.172102439C>A	TOPMed,gnomAD
rs996627276	p.Gly34Ser	missense variant	-	NC_000002.12:g.172102439C>T	TOPMed,gnomAD
rs1440177276	p.Pro37Arg	missense variant	-	NC_000002.12:g.172102429G>C	gnomAD
rs1440177276	p.Pro37Gln	missense variant	-	NC_000002.12:g.172102429G>T	gnomAD
rs202221844	p.Gly38Ser	missense variant	-	NC_000002.12:g.172102427C>T	ExAC,TOPMed,gnomAD
rs535876691	p.Asn40Lys	missense variant	-	NC_000002.12:g.172102419G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1175079445	p.Ser41Gly	missense variant	-	NC_000002.12:g.172102418T>C	gnomAD
NCI-TCGA novel	p.Ser42Asn	missense variant	-	NC_000002.12:g.172102414C>T	NCI-TCGA
rs1406848525	p.Ser43Gly	missense variant	-	NC_000002.12:g.172102412T>C	gnomAD
rs1364001982	p.Ser44Ile	missense variant	-	NC_000002.12:g.172102408C>A	TOPMed
NCI-TCGA novel	p.Pro50His	missense variant	-	NC_000002.12:g.172102390G>T	NCI-TCGA
rs1470915292	p.Pro50Ser	missense variant	-	NC_000002.12:g.172102391G>A	TOPMed,gnomAD
rs1215538707	p.Ser53Pro	missense variant	-	NC_000002.12:g.172102382A>G	TOPMed
rs1259420868	p.Ser53Leu	missense variant	-	NC_000002.12:g.172102381G>A	TOPMed
rs568536219	p.Thr55Pro	missense variant	-	NC_000002.12:g.172102376T>G	1000Genomes
rs1211380790	p.Thr55Ser	missense variant	-	NC_000002.12:g.172102375G>C	gnomAD
rs1171574624	p.Ser59Pro	missense variant	-	NC_000002.12:g.172102364A>G	TOPMed,gnomAD
rs762049835	p.Ala61Thr	missense variant	-	NC_000002.12:g.172102358C>T	ExAC,gnomAD
rs775302449	p.Ala61Val	missense variant	-	NC_000002.12:g.172102357G>A	ExAC,gnomAD
rs1414740291	p.Asp63Asn	missense variant	-	NC_000002.12:g.172102352C>T	gnomAD
NCI-TCGA novel	p.Ser64Asn	missense variant	-	NC_000002.12:g.172102348C>T	NCI-TCGA
rs1353914567	p.Tyr66Phe	missense variant	-	NC_000002.12:g.172102342T>A	gnomAD
COSM1009574	p.Tyr67Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102339T>C	NCI-TCGA Cosmic
rs1238786067	p.Asn69Asp	missense variant	-	NC_000002.12:g.172102334T>C	gnomAD
rs556631927	p.Gln70Lys	missense variant	-	NC_000002.12:g.172102331G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778786016	p.Pro73Leu	missense variant	-	NC_000002.12:g.172102321G>A	ExAC,gnomAD
rs148753457	p.Ala74Val	missense variant	-	NC_000002.12:g.172102318G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1259588647	p.Gly77Asp	missense variant	-	NC_000002.12:g.172102309C>T	gnomAD
NCI-TCGA novel	p.Gly79Asp	missense variant	-	NC_000002.12:g.172102303C>T	NCI-TCGA
NCI-TCGA novel	p.Gly79Ala	missense variant	-	NC_000002.12:g.172102303C>G	NCI-TCGA
rs1188375974	p.Gly79Ser	missense variant	-	NC_000002.12:g.172102304C>T	gnomAD
rs1485461137	p.Gly80Arg	missense variant	-	NC_000002.12:g.172102301C>T	gnomAD
rs1241676832	p.Gly81Ser	missense variant	-	NC_000002.12:g.172102298C>T	gnomAD
rs781589723	p.Gly81Asp	missense variant	-	NC_000002.12:g.172102297C>T	ExAC,gnomAD
rs1457752592	p.Ser82Leu	missense variant	-	NC_000002.12:g.172102294G>A	TOPMed
rs963693630	p.Pro83Ala	missense variant	-	NC_000002.12:g.172102292G>C	TOPMed,gnomAD
rs570628974	p.Tyr84Cys	missense variant	-	NC_000002.12:g.172102288T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs552134336	p.Ala85Ser	missense variant	-	NC_000002.12:g.172102286C>A	1000Genomes
rs566464055	p.Met87Leu	missense variant	-	NC_000002.12:g.172102280T>A	1000Genomes,ExAC,gnomAD
rs1347605817	p.Met87Ile	missense variant	-	NC_000002.12:g.172102278C>T	gnomAD
rs566464055	p.Met87Val	missense variant	-	NC_000002.12:g.172102280T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly88Cys	missense variant	-	NC_000002.12:g.172102277C>A	NCI-TCGA
rs149546596	p.Gly88Arg	missense variant	-	NC_000002.12:g.172102277C>G	ESP,ExAC,TOPMed,gnomAD
rs765319733	p.Gly88Val	missense variant	-	NC_000002.12:g.172102276C>A	ExAC
rs149546596	p.Gly88Ser	missense variant	-	NC_000002.12:g.172102277C>T	ESP,ExAC,TOPMed,gnomAD
rs1319226097	p.Tyr90His	missense variant	-	NC_000002.12:g.172102271A>G	TOPMed
NCI-TCGA novel	p.Gln91His	missense variant	-	NC_000002.12:g.172102266C>G	NCI-TCGA
rs762068836	p.Gln91Glu	missense variant	-	NC_000002.12:g.172102268G>C	ExAC,TOPMed,gnomAD
rs150778661	p.Gln91Arg	missense variant	-	NC_000002.12:g.172102267T>C	ESP,ExAC,TOPMed,gnomAD
rs762068836	p.Gln91Lys	missense variant	-	NC_000002.12:g.172102268G>T	ExAC,TOPMed,gnomAD
rs138602104	p.Gln93Lys	missense variant	-	NC_000002.12:g.172102262G>T	ESP,TOPMed
rs750199207	p.Gln93Arg	missense variant	-	NC_000002.12:g.172102261T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala94Thr	missense variant	-	NC_000002.12:g.172102259C>T	NCI-TCGA
rs759310365	p.Ser95Arg	missense variant	-	NC_000002.12:g.172102254G>T	ExAC,gnomAD
rs997972261	p.Gly96Cys	missense variant	-	NC_000002.12:g.172102253C>A	TOPMed,gnomAD
rs547762809	p.Gly96Val	missense variant	-	NC_000002.12:g.172102252C>A	1000Genomes,ExAC,gnomAD
COSM1401287	p.Leu97Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102249A>G	NCI-TCGA Cosmic
rs1259428215	p.Asn98Ser	missense variant	-	NC_000002.12:g.172102246T>C	TOPMed,gnomAD
rs1259428215	p.Asn98Ile	missense variant	-	NC_000002.12:g.172102246T>A	TOPMed,gnomAD
rs1486955594	p.Asn99Lys	missense variant	-	NC_000002.12:g.172102242G>T	gnomAD
rs1248937877	p.Val100Asp	missense variant	-	NC_000002.12:g.172102240A>T	gnomAD
rs770927432	p.Tyr102Cys	missense variant	-	NC_000002.12:g.172102234T>C	ExAC,TOPMed,gnomAD
rs201185401	p.Ser103Pro	missense variant	-	NC_000002.12:g.172102232A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala104Val	missense variant	-	NC_000002.12:g.172102228G>A	NCI-TCGA
rs142362355	p.Lys105Asn	missense variant	-	NC_000002.12:g.172102224C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307238251	p.Lys105Arg	missense variant	-	NC_000002.12:g.172102225T>C	gnomAD
rs1216739922	p.Ser106Thr	missense variant	-	NC_000002.12:g.172102222C>G	gnomAD
rs747832022	p.Ser106Arg	missense variant	-	NC_000002.12:g.172102221G>T	ExAC,gnomAD
rs1324883723	p.Ser107Cys	missense variant	-	NC_000002.12:g.172102220T>A	TOPMed,gnomAD
rs1437996447	p.Ser107Asn	missense variant	-	NC_000002.12:g.172102219C>T	gnomAD
rs1015299543	p.Asp109Asn	missense variant	-	NC_000002.12:g.172102214C>T	TOPMed,gnomAD
rs1015299543	p.Asp109His	missense variant	-	NC_000002.12:g.172102214C>G	TOPMed,gnomAD
rs1296777988	p.Leu110Met	missense variant	-	NC_000002.12:g.172102211G>T	TOPMed
rs780764135	p.Gly111Asp	missense variant	-	NC_000002.12:g.172102207C>T	ExAC,gnomAD
rs1293992646	p.Tyr112Phe	missense variant	-	NC_000002.12:g.172102204T>A	TOPMed,gnomAD
rs1293992646	p.Tyr112Cys	missense variant	-	NC_000002.12:g.172102204T>C	TOPMed,gnomAD
rs1333337557	p.Ala114Ser	missense variant	-	NC_000002.12:g.172102199C>A	TOPMed
rs747267616	p.Ala114Gly	missense variant	-	NC_000002.12:g.172102198G>C	ExAC,gnomAD
rs1230095524	p.Ala115Val	missense variant	-	NC_000002.12:g.172102195G>A	TOPMed
rs550662278	p.Thr117Asn	missense variant	-	NC_000002.12:g.172102189G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser118Phe	missense variant	-	NC_000002.12:g.172102186G>A	NCI-TCGA
rs1290749169	p.Tyr122Asp	missense variant	-	NC_000002.12:g.172102175A>C	TOPMed
rs1254993513	p.Tyr122Phe	missense variant	-	NC_000002.12:g.172102174T>A	gnomAD
rs764167235	p.Thr124Ala	missense variant	-	NC_000002.12:g.172102169T>C	ExAC,gnomAD
rs1250183401	p.Thr124Asn	missense variant	-	NC_000002.12:g.172102168G>T	TOPMed,gnomAD
rs201345810	p.Ser125Ile	missense variant	-	NC_000002.12:g.172102165C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1343325746	p.Ser126Leu	missense variant	-	NC_000002.12:g.172102162G>A	gnomAD
rs766299353	p.Asn130Ser	missense variant	-	NC_000002.12:g.172102150T>C	ExAC,gnomAD
COSM1009573	p.Asn131Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102147T>C	NCI-TCGA Cosmic
rs762962850	p.Asn131Ile	missense variant	-	NC_000002.12:g.172102147T>A	ExAC,TOPMed,gnomAD
rs1310690123	p.Asn131Lys	missense variant	-	NC_000002.12:g.172102146G>T	gnomAD
rs773349011	p.Glu132Lys	missense variant	-	NC_000002.12:g.172102145C>T	ExAC,TOPMed,gnomAD
rs769414506	p.Pro133Ala	missense variant	-	NC_000002.12:g.172102142G>C	ExAC,gnomAD
rs747551701	p.Pro133Leu	missense variant	-	NC_000002.12:g.172102141G>A	ExAC,gnomAD
rs761631645	p.Glu134Gly	missense variant	-	NC_000002.12:g.172101646T>C	ExAC,TOPMed,gnomAD
rs761631645	p.Glu134Val	missense variant	-	NC_000002.12:g.172101646T>A	ExAC,TOPMed,gnomAD
COSM3570018	p.Glu136Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101641C>T	NCI-TCGA Cosmic
rs763503263	p.Pro140Ser	missense variant	-	NC_000002.12:g.172101629G>A	ExAC,gnomAD
rs760240559	p.Arg143Gln	missense variant	-	NC_000002.12:g.172101619C>T	ExAC,TOPMed,gnomAD
rs1291434871	p.Ile144Met	missense variant	-	NC_000002.12:g.172101615T>C	gnomAD
rs564867492	p.Ile144Arg	missense variant	-	NC_000002.12:g.172101616A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200908537	p.Gly147Arg	missense variant	-	NC_000002.12:g.172101608C>T	ExAC,TOPMed,gnomAD
rs774531942	p.Pro149Leu	missense variant	-	NC_000002.12:g.172101601G>A	ExAC,TOPMed,gnomAD
rs759220896	p.Pro149Ser	missense variant	-	NC_000002.12:g.172101602G>A	ExAC,gnomAD
rs1412906164	p.Val152Ile	missense variant	-	NC_000002.12:g.172101593C>T	TOPMed
NCI-TCGA novel	p.Pro155Thr	missense variant	-	NC_000002.12:g.172101584G>T	NCI-TCGA
rs771378355	p.Arg156Cys	missense variant	-	NC_000002.12:g.172101581G>A	ExAC,TOPMed,gnomAD
rs771378355	p.Arg156Ser	missense variant	-	NC_000002.12:g.172101581G>T	ExAC,TOPMed,gnomAD
rs1383128488	p.Arg156His	missense variant	-	NC_000002.12:g.172101580C>T	gnomAD
COSM6088353	p.Ile158Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101574A>C	NCI-TCGA Cosmic
rs1457892507	p.Tyr159Cys	missense variant	-	NC_000002.12:g.172101571T>C	gnomAD
rs1417773141	p.Ser160Phe	missense variant	-	NC_000002.12:g.172101568G>A	gnomAD
rs1192965415	p.Gln168Arg	missense variant	-	NC_000002.12:g.172101544T>C	gnomAD
rs755198514	p.Leu179Phe	missense variant	-	NC_000002.12:g.172101510C>A	ExAC,TOPMed
rs1271131667	p.Pro180Leu	missense variant	-	NC_000002.12:g.172101508G>A	gnomAD
rs1467643680	p.Pro180Ser	missense variant	-	NC_000002.12:g.172101509G>A	gnomAD
rs1229980856	p.Glu181Asp	missense variant	-	NC_000002.12:g.172101504C>G	gnomAD
rs747280528	p.Arg182Gly	missense variant	-	NC_000002.12:g.172101503G>C	ExAC
rs1356740203	p.Ala183Ser	missense variant	-	NC_000002.12:g.172101500C>A	gnomAD
rs1225034144	p.Ser188Phe	missense variant	-	NC_000002.12:g.172101484G>A	gnomAD
rs1322885838	p.Gly190Ala	missense variant	-	NC_000002.12:g.172101478C>G	gnomAD
rs1324898063	p.Gly190Ser	missense variant	-	NC_000002.12:g.172101479C>T	gnomAD
rs1485612982	p.Leu191Ile	missense variant	-	NC_000002.12:g.172101476G>T	TOPMed
COSM1009572	p.Gln193His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101468C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val196Gly	missense variant	-	NC_000002.12:g.172100943A>C	NCI-TCGA
rs1352907453	p.Asn202Thr	missense variant	-	NC_000002.12:g.172100925T>G	gnomAD
rs765989902	p.Arg203Leu	missense variant	-	NC_000002.12:g.172100922C>A	ExAC,TOPMed,gnomAD
rs765989902	p.Arg203His	missense variant	-	NC_000002.12:g.172100922C>T	ExAC,TOPMed,gnomAD
rs1414617008	p.Arg204Trp	missense variant	-	NC_000002.12:g.172100920G>A	gnomAD
rs1372752408	p.Met210Thr	missense variant	-	NC_000002.12:g.172100901A>G	TOPMed
rs762543150	p.Met210Ile	missense variant	-	NC_000002.12:g.172100900C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp211Ter	stop gained	-	NC_000002.12:g.172100898C>T	NCI-TCGA
NCI-TCGA novel	p.Trp211Leu	missense variant	-	NC_000002.12:g.172100898C>A	NCI-TCGA
rs780166978	p.Lys212Arg	missense variant	-	NC_000002.12:g.172100895T>C	TOPMed,gnomAD
rs780166978	p.Lys212Ile	missense variant	-	NC_000002.12:g.172100895T>A	TOPMed,gnomAD
rs1414488611	p.Lys212Glu	missense variant	-	NC_000002.12:g.172100896T>C	TOPMed,gnomAD
rs765743540	p.Ser213Asn	missense variant	-	NC_000002.12:g.172100892C>T	ExAC,gnomAD
rs765743540	p.Ser213Thr	missense variant	-	NC_000002.12:g.172100892C>G	ExAC,gnomAD
rs1473516855	p.Gly214Cys	missense variant	-	NC_000002.12:g.172100890C>A	TOPMed,gnomAD
rs1473516855	p.Gly214Arg	missense variant	-	NC_000002.12:g.172100890C>G	TOPMed,gnomAD
rs1473516855	p.Gly214Ser	missense variant	-	NC_000002.12:g.172100890C>T	TOPMed,gnomAD
COSM6154741	p.Glu215Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100885C>G	NCI-TCGA Cosmic
rs768839855	p.Pro217Ser	missense variant	-	NC_000002.12:g.172100881G>A	ExAC,gnomAD
rs760753513	p.Pro217Leu	missense variant	-	NC_000002.12:g.172100880G>A	ExAC,TOPMed,gnomAD
rs768839855	p.Pro217Ala	missense variant	-	NC_000002.12:g.172100881G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser218Ala	missense variant	-	NC_000002.12:g.172100878A>C	NCI-TCGA
rs1235886408	p.Glu219Gln	missense variant	-	NC_000002.12:g.172100875C>G	gnomAD
COSM6088355	p.His221Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100867G>T	NCI-TCGA Cosmic
rs554400639	p.His221Tyr	missense variant	-	NC_000002.12:g.172100869G>A	1000Genomes,ExAC,gnomAD
rs772300299	p.Pro222Arg	missense variant	-	NC_000002.12:g.172100865G>C	ExAC,TOPMed,gnomAD
rs151259959	p.Ala224Thr	missense variant	-	NC_000002.12:g.172100860C>T	ESP,ExAC,TOPMed,gnomAD
rs777523240	p.Ala224Gly	missense variant	-	NC_000002.12:g.172100859G>C	ExAC,TOPMed,gnomAD
rs748076206	p.Ser225Arg	missense variant	-	NC_000002.12:g.172100855G>T	ExAC,gnomAD
rs769618009	p.Ser225Gly	missense variant	-	NC_000002.12:g.172100857T>C	ExAC,gnomAD
COSM3425459	p.Ala226Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100854C>T	NCI-TCGA Cosmic
rs1232987684	p.Ser227Phe	missense variant	-	NC_000002.12:g.172100850G>A	gnomAD
rs1304175708	p.Pro229Ser	missense variant	-	NC_000002.12:g.172100845G>A	gnomAD
rs1448345918	p.Cys230Tyr	missense variant	-	NC_000002.12:g.172100841C>T	gnomAD
rs1448345918	p.Cys230Phe	missense variant	-	NC_000002.12:g.172100841C>A	gnomAD
rs1445628753	p.Cys230Arg	missense variant	-	NC_000002.12:g.172100842A>G	gnomAD
rs1317937931	p.Pro233Ser	missense variant	-	NC_000002.12:g.172100833G>A	TOPMed,gnomAD
rs1276416481	p.Pro234Leu	missense variant	-	NC_000002.12:g.172100829G>A	TOPMed
COSM717728	p.Ser236Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.172100823G>T	NCI-TCGA Cosmic
rs1001589175	p.Ser236Pro	missense variant	-	NC_000002.12:g.172100824A>G	TOPMed
rs1458417247	p.Ala237Gly	missense variant	-	NC_000002.12:g.172100820G>C	gnomAD
COSM4086780	p.Pro238Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100817G>A	NCI-TCGA Cosmic
rs200710841	p.Ala239Thr	missense variant	-	NC_000002.12:g.172100815C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1474074639	p.Trp241Leu	missense variant	-	NC_000002.12:g.172100808C>A	TOPMed,gnomAD
rs1474074639	p.Trp241Ter	stop gained	-	NC_000002.12:g.172100808C>T	TOPMed,gnomAD
rs373016866	p.Pro246Arg	missense variant	-	NC_000002.12:g.172100793G>C	ESP,ExAC,TOPMed,gnomAD
rs373016866	p.Pro246Leu	missense variant	-	NC_000002.12:g.172100793G>A	ESP,ExAC,TOPMed,gnomAD
rs373016866	p.Pro246Gln	missense variant	-	NC_000002.12:g.172100793G>T	ESP,ExAC,TOPMed,gnomAD
rs1450406295	p.Gln247Lys	missense variant	-	NC_000002.12:g.172100791G>T	TOPMed
rs750079574	p.Gln247Pro	missense variant	-	NC_000002.12:g.172100790T>G	ExAC,TOPMed,gnomAD
rs765688493	p.Arg248Leu	missense variant	-	NC_000002.12:g.172100787C>A	ExAC,gnomAD
rs765688493	p.Arg248Pro	missense variant	-	NC_000002.12:g.172100787C>G	ExAC,gnomAD
rs1233259593	p.Met249Leu	missense variant	-	NC_000002.12:g.172100785T>A	gnomAD
rs1320255827	p.Ala250Val	missense variant	-	NC_000002.12:g.172100781G>A	gnomAD
rs569101497	p.Ala250Ser	missense variant	-	NC_000002.12:g.172100782C>A	1000Genomes
rs550538048	p.Gly251Val	missense variant	-	NC_000002.12:g.172100778C>A	1000Genomes,ExAC,gnomAD
rs1295035593	p.Gly252Ser	missense variant	-	NC_000002.12:g.172100776C>T	gnomAD
rs775594803	p.Gly253Cys	missense variant	-	NC_000002.12:g.172100773C>A	ExAC,TOPMed,gnomAD
rs775594803	p.Gly253Ser	missense variant	-	NC_000002.12:g.172100773C>T	ExAC,TOPMed,gnomAD
rs772095698	p.Pro255Ala	missense variant	-	NC_000002.12:g.172100767G>C	ExAC,TOPMed,gnomAD
rs1325103506	p.Pro255Arg	missense variant	-	NC_000002.12:g.172100766G>C	TOPMed,gnomAD
rs1325103506	p.Pro255Leu	missense variant	-	NC_000002.12:g.172100766G>A	TOPMed,gnomAD
rs772095698	p.Pro255Ser	missense variant	-	NC_000002.12:g.172100767G>A	ExAC,TOPMed,gnomAD
rs1325103506	p.Pro255Gln	missense variant	-	NC_000002.12:g.172100766G>T	TOPMed,gnomAD
rs759773339	p.Gly256Ser	missense variant	-	NC_000002.12:g.172100764C>T	ExAC,TOPMed,gnomAD
rs1427706743	p.Ser257Asn	missense variant	-	NC_000002.12:g.172100760C>T	TOPMed,gnomAD
rs1210059852	p.Gly261Ser	missense variant	-	NC_000002.12:g.172100749C>T	TOPMed
rs1186970583	p.Ala262Thr	missense variant	-	NC_000002.12:g.172100746C>T	TOPMed,gnomAD
rs1186970583	p.Ala262Pro	missense variant	-	NC_000002.12:g.172100746C>G	TOPMed,gnomAD
rs538274009	p.Gly263Arg	missense variant	-	NC_000002.12:g.172100743C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs538274009	p.Gly263Cys	missense variant	-	NC_000002.12:g.172100743C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538274009	p.Gly263Ser	missense variant	-	NC_000002.12:g.172100743C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747881738	p.Ser264Ile	missense variant	-	NC_000002.12:g.172100739C>A	ExAC,TOPMed,gnomAD
rs780994188	p.Gly266Ser	missense variant	-	NC_000002.12:g.172100734C>T	ExAC,gnomAD
rs994949088	p.Gly266Ala	missense variant	-	NC_000002.12:g.172100733C>G	TOPMed,gnomAD
rs768589495	p.Pro269Arg	missense variant	-	NC_000002.12:g.172100724G>C	ExAC,TOPMed,gnomAD
rs768589495	p.Pro269Leu	missense variant	-	NC_000002.12:g.172100724G>A	ExAC,TOPMed,gnomAD
rs1272016877	p.Ser270Arg	missense variant	-	NC_000002.12:g.172100720G>C	gnomAD
rs746967272	p.Ser271Arg	missense variant	-	NC_000002.12:g.172100717G>T	ExAC,gnomAD
rs112416286	p.Ala272Gly	missense variant	-	NC_000002.12:g.172100715G>C	gnomAD
rs112416286	p.Ala272Val	missense variant	-	NC_000002.12:g.172100715G>A	gnomAD
NCI-TCGA novel	p.Ala273Val	missense variant	-	NC_000002.12:g.172100712G>A	NCI-TCGA
COSM4847449	p.Ser274Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100709G>C	NCI-TCGA Cosmic
rs779581708	p.Ser274Leu	missense variant	-	NC_000002.12:g.172100709G>A	ExAC,TOPMed,gnomAD
rs1188506638	p.Ala275Ser	missense variant	-	NC_000002.12:g.172100707C>A	gnomAD
rs200092634	p.Gly278Cys	missense variant	-	NC_000002.12:g.172100698C>A	ESP,ExAC,TOPMed,gnomAD
rs200092634	p.Gly278Ser	missense variant	-	NC_000002.12:g.172100698C>T	ESP,ExAC,TOPMed,gnomAD
rs1369557173	p.Gly278Asp	missense variant	-	NC_000002.12:g.172100697C>T	gnomAD
rs1386459053	p.Tyr280Asp	missense variant	-	NC_000002.12:g.172100692A>C	TOPMed
rs1461281832	p.Pro281His	missense variant	-	NC_000002.12:g.172100688G>T	gnomAD
rs750084701	p.Pro281Ser	missense variant	-	NC_000002.12:g.172100689G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp282Cys	missense variant	-	NC_000002.12:g.172100684C>G	NCI-TCGA
NCI-TCGA novel	p.Tyr283His	missense variant	-	NC_000002.12:g.172100683A>G	NCI-TCGA
rs571295299	p.Tyr283Cys	missense variant	-	NC_000002.12:g.172100682T>C	1000Genomes,ExAC,gnomAD
rs571295299	p.Tyr283Phe	missense variant	-	NC_000002.12:g.172100682T>A	1000Genomes,ExAC,gnomAD
rs1166909891	p.His284Tyr	missense variant	-	NC_000002.12:g.172100680G>A	gnomAD
rs1431814134	p.Gln285Leu	missense variant	-	NC_000002.12:g.172100676T>A	gnomAD
rs1391036392	p.Thr286Ser	missense variant	-	NC_000002.12:g.172100673G>C	TOPMed,gnomAD
rs1391036392	p.Thr286Asn	missense variant	-	NC_000002.12:g.172100673G>T	TOPMed,gnomAD
rs747099746	p.Ala290Ser	missense variant	-	NC_000002.12:g.172100662C>A	ExAC,gnomAD
rs756625227	p.Ser291Leu	missense variant	-	NC_000002.12:g.172100658G>A	ExAC,TOPMed,gnomAD
rs1207769276	p.His292Asn	missense variant	-	NC_000002.12:g.172100656G>T	gnomAD
rs753186286	p.Gln294Lys	missense variant	-	NC_000002.12:g.172100650G>T	ExAC,gnomAD
rs1279166165	p.Ala295Thr	missense variant	-	NC_000002.12:g.172100647C>T	gnomAD
rs1043036799	p.Pro306Ala	missense variant	-	NC_000002.12:g.172100614G>C	TOPMed
rs1390785268	p.Pro306Arg	missense variant	-	NC_000002.12:g.172100613G>C	TOPMed,gnomAD
rs766546280	p.Pro308Leu	missense variant	-	NC_000002.12:g.172100607G>A	ExAC,gnomAD
rs746958257	p.His309Leu	missense variant	-	NC_000002.12:g.172100604T>A	ExAC,gnomAD
rs746958257	p.His309Arg	missense variant	-	NC_000002.12:g.172100604T>C	ExAC,gnomAD
COSM418481	p.His310Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100600G>C	NCI-TCGA Cosmic
rs998958523	p.His311Tyr	missense variant	-	NC_000002.12:g.172100599G>A	TOPMed
rs989594559	p.His313Gln	missense variant	-	NC_000002.12:g.172100591G>T	TOPMed
rs1464591996	p.His314Asp	missense variant	-	NC_000002.12:g.172100590G>C	gnomAD
rs1184395916	p.His315Tyr	missense variant	-	NC_000002.12:g.172100587G>A	TOPMed
rs775343774	p.Gly316Arg	missense variant	-	NC_000002.12:g.172100584C>G	ExAC
rs1176923623	p.Gly317Arg	missense variant	-	NC_000002.12:g.172100581C>G	gnomAD
rs1364411529	p.Gly318Glu	missense variant	-	NC_000002.12:g.172100577C>T	TOPMed
rs1472523234	p.Gly318Arg	missense variant	-	NC_000002.12:g.172100578C>T	gnomAD
rs1470253187	p.Gly319Val	missense variant	-	NC_000002.12:g.172100574C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala320Thr	missense variant	-	NC_000002.12:g.172100572C>T	NCI-TCGA
rs772057247	p.Pro321Gln	missense variant	-	NC_000002.12:g.172100568G>T	ExAC,TOPMed,gnomAD
rs772057247	p.Pro321Arg	missense variant	-	NC_000002.12:g.172100568G>C	ExAC,TOPMed,gnomAD
rs745306871	p.Val322Glu	missense variant	-	NC_000002.12:g.172100565A>T	ExAC,gnomAD
rs1042284786	p.Ser323Arg	missense variant	-	NC_000002.12:g.172100561G>C	gnomAD
rs1256349326	p.Ser323Ile	missense variant	-	NC_000002.12:g.172100562C>A	gnomAD
COSM4086777	p.Ala324Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100560C>T	NCI-TCGA Cosmic
rs1483927406	p.Ala324Ser	missense variant	-	NC_000002.12:g.172100560C>A	gnomAD
rs778600887	p.Gly325Arg	missense variant	-	NC_000002.12:g.172100557C>T	ExAC,TOPMed,gnomAD
rs1405733018	p.Phe328Cys	missense variant	-	NC_000002.12:g.172100547A>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004352	Autistic Disorder	group	BEFREE;CTD_human;LHGDN
C0004565	Melanoma, B16	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0024314	Lymphoproliferative Disorders	group	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0239337	Deformity of limb	group	BEFREE
C0265341	Rieger syndrome	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0344539	Hypoplasia of iris	disease	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0678222	Breast Carcinoma	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C3495488	Axenfeld-Rieger syndrome	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE
C4085595	AL-RAQAD SYNDROME	disease	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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003682	chromatin binding	IEA
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0003727	single-stranded RNA binding	IEA
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	IBA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007420	brain development	TAS
GO:0009954	proximal/distal pattern formation	IEA
GO:0021544	subpallium development	IEA
GO:0021766	hippocampus development	IEA
GO:0021772	olfactory bulb 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:0042475	odontogenesis of dentin-containing tooth	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	IBA
GO:0046533	negative regulation of photoreceptor cell differentiation	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA
GO:0048755	branching morphogenesis of a nerve	IEA
GO:0051216	cartilage development	IEA
GO:1902871	positive regulation of amacrine cell differentiation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
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 DLX2 mRNA	23792671
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of DLX2 mRNA	28329830
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of DLX2 mRNA	21394737
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of DLX2 mRNA	19167446
C012729	2-amino-4-phosphonobutyric acid	2-amino-4-phosphonobutyric acid results in increased expression of DLX2 protein	16806298
C012729	2-amino-4-phosphonobutyric acid	Glycine Agents inhibits the reaction [2-amino-4-phosphonobutyric acid results in increased expression of DLX2 protein]	16806298
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 DLX2 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 DLX2 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 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 DLX2 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 Vorinostat 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 DLX2 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 DLX2 mRNA	19561079
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 DLX2 mRNA	20382639
C496492	abrine	abrine results in increased expression of DLX2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of DLX2 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of DLX2 mRNA	21641981
D000393	Air Pollutants	Air Pollutants results in increased expression of DLX2 mRNA	23649983
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DLX2 mRNA	16483693
C004984	apocarotenal	apocarotenal results in increased expression of DLX2 mRNA	17034753
C015001	arsenite	arsenite results in increased methylation of DLX2 promoter	23974009
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of DLX2 mRNA	18687144
D001280	Atrazine	Atrazine results in decreased expression of DLX2 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of DLX2 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of DLX2 mRNA	20106945; 21632981; 21714911;
D019207	beta Carotene	beta Carotene results in increased expression of DLX2 mRNA	17034753
D001622	Betaine	Betaine results in increased expression of DLX2 mRNA	26391144
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of DLX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of DLX2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of DLX2 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in decreased expression of DLX2 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of DLX2 mRNA	26079696
D002945	Cisplatin	Cisplatin results in increased expression of DLX2 mRNA	19561079
D002945	Cisplatin	Cisplatin results in decreased expression of DLX2 mRNA	21151649
D019327	Copper Sulfate	Copper Sulfate results in increased expression of DLX2 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of DLX2 mRNA	19167446
D003471	Cuprizone	Cuprizone results in decreased expression of DLX2 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in increased expression of DLX2 mRNA	25562108
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of DLX2 mRNA	24921660
D000077209	Decitabine	Decitabine results in increased expression of DLX2 mRNA	21856257
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of DLX2 mRNA	29581250
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 DLX2 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 DLX2 mRNA	27188386
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 DLX2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat 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 DLX2 mRNA	27188386
D013759	Dronabinol	Dronabinol affects the methylation of DLX2 gene	26044905
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of DLX2 mRNA	19619570
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of DLX2 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of DLX2 mRNA	19619570
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of DLX2 mRNA	23129252
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of DLX2 mRNA	28329830
D005557	Formaldehyde	Formaldehyde results in increased expression of DLX2 mRNA	20655997; 23649840;
C069837	fullerene C60	fullerene C60 results in decreased expression of DLX2 mRNA	19167457
D018684	Glycine Agents	Glycine Agents inhibits the reaction [2-amino-4-phosphonobutyric acid results in increased expression of DLX2 protein]	16806298
D006108	Graphite	Graphite affects the expression of DLX2 mRNA	29933104
C544151	jinfukang	jinfukang results in decreased expression of DLX2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of DLX2 mRNA	24796395
C008261	lead acetate	lead acetate results in increased expression of DLX2 mRNA	22609695
D008713	Methimazole	Methimazole results in decreased expression of DLX2 mRNA	17403546
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of DLX2 mRNA	28001369
D009151	Mustard Gas	Mustard Gas results in increased expression of DLX2 mRNA	15674843
D009532	Nickel	Nickel results in decreased expression of DLX2 mRNA	24768652
C029938	nickel sulfate	nickel sulfate results in increased expression of DLX2 mRNA	22714537
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of DLX2 mRNA	18593933
C494474	perchlorate	perchlorate results in decreased expression of DLX2 mRNA	17403546
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 DLX2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of DLX2 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in decreased expression of DLX2 mRNA	23557933
D010938	Plant Oils	Plant Oils results in increased expression of DLX2 mRNA	23370395
D011374	Progesterone	Progesterone results in decreased expression of DLX2 mRNA	21795739
C005556	propionaldehyde	propionaldehyde results in increased expression of DLX2 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of DLX2 mRNA	17403546
D011794	Quercetin	Quercetin results in increased expression of DLX2 mRNA	21632981
D012402	Rotenone	Rotenone results in decreased expression of DLX2 mRNA	29955902
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of DLX2 mRNA	23806026; 25895662;
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of DLX2 mRNA	22300531; 25351596;
D012834	Silver	Silver results in increased expression of DLX2 mRNA	26014281
C017947	sodium arsenite	sodium arsenite results in increased expression of DLX2 mRNA	16966095; 28595984;
C017947	sodium arsenite	TP53 protein promotes the reaction [sodium arsenite results in increased expression of DLX2 mRNA]	16966095
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of DLX2 mRNA	29432895
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of DLX2 mRNA	14729362
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of DLX2 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLX2 mRNA	16704738; 19619570; 20106945; 21632981; 22903824;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DLX2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLX2 mRNA	17586704; 24058054;
D013974	Thyroxine	Thyroxine affects the expression of DLX2 mRNA	17403546
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of DLX2 mRNA	30579903
D014118	Toxins, Biological	Toxins, Biological affects the expression of DLX2 mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of DLX2 mRNA	21934132
D014212	Tretinoin	DKK1 protein promotes the reaction [Tretinoin results in increased expression of DLX2 protein]	17064353
D014212	Tretinoin	Tretinoin results in decreased expression of DLX2 protein	17551590
D014212	Tretinoin	Tretinoin results in increased expression of DLX2 protein	16806298; 17064353;
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 DLX2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of DLX2 mRNA	24935251; 26272509;
D014284	Triiodothyronine	Triiodothyronine affects the expression of DLX2 mRNA	17403546
D014520	Urethane	Urethane results in increased expression of DLX2 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 DLX2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of DLX2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of DLX2 mRNA	19101580; 23179753; 24383497; 26272509; 27188386;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of DLX2 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat 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 DLX2 mRNA	27188386
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of DLX2 mRNA	18593933

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-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR022135	Distal-less_N
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
PF12413	DLL_N
PF00046	Homeodomain

Gene: DLX2

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

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