CleftGeneDB-Search

Gene: DLX5

Basic information

Tag	Content
Uniprot ID	P56178; B7Z4P3; Q9UPL1;
Entrez ID	1749
Genbank protein ID	AAH06226.1; AAC17833.1; BAH12629.1; BAB14587.1;
Genbank nucleotide ID	NM_005221.5
Ensembl protein ID	ENSP00000475008; ENSP00000498116;
Ensembl nucleotide ID	ENSG00000105880
Gene name	Homeobox protein DLX-5
Gene symbol	DLX5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.
Sequence	MTGVFDRRVP SIRSGDFQAP FQTSAAMHHP SQESPTLPES SATDSDYYSP TGGAPHGYCS 60 PTSASYGKAL NPYQYQYHGV NGSAGSYPAK AYADYSYASS YHQYGGAYNR VPSATNQPEK 120 EVTEPEVRMV NGKPKKVRKP RTIYSSFQLA ALQRRFQKTQ YLALPERAEL AASLGLTQTQ 180 VKIWFQNKRS KIKKIMKNGE MPPEHSPSSS DPMACNSPQS PAVWEPQGSS RSLSHHPHAH 240 PPTSNQSPAS SYLENSASWY TSAASSINSH LPPPGSLQHP LALASGTLY 289

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

PDB ID
2DJN
4RDU

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	DLX5	507415	Q1RMR7			Bos taurus	Prediction	More>>
1:1 ortholog	DLX5	482313	E2RJY3			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DLX5	102184778	A0A452DYR1			Capra hircus	Prediction	More>>
1:1 ortholog	DLX5	100052263	F7DY45			Equus caballus	Prediction	More>>
1:1 ortholog	DLX5	1749	P56178			Homo sapiens	Prediction	More>>
1:1 ortholog	Dlx5	13395	P70396	CPO	E13.5	Mus musculus	Publication	More>>
1:1 ortholog	DLX5	463554	H2QUZ2			Pan troglodytes	Prediction	More>>
1:1 ortholog	DLX5		A0A287AIX4			Sus scrofa	Prediction	More>>
1:1 ortholog	DLX5	100008630	G1SVH5			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Dlx5	25431	A0A0G2JSK6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	dlx5a	30569	Q5XJL9			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs780335780	p.Gly3Arg	missense variant	-	NC_000007.14:g.97024617C>T	ExAC,gnomAD
rs758818059	p.Val4Met	missense variant	-	NC_000007.14:g.97024614C>T	ExAC,gnomAD
rs546551494	p.Arg8Thr	missense variant	-	NC_000007.14:g.97024601C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1386029295	p.Ser11Gly	missense variant	-	NC_000007.14:g.97024593T>C	TOPMed
rs753811703	p.Arg13Ter	stop gained	-	NC_000007.14:g.97024587G>A	ExAC,gnomAD
rs1019627015	p.Arg13Gln	missense variant	-	NC_000007.14:g.97024586C>T	TOPMed
rs1019627015	p.Arg13Pro	missense variant	-	NC_000007.14:g.97024586C>G	TOPMed
rs1460070802	p.Gly15Asp	missense variant	-	NC_000007.14:g.97024580C>T	gnomAD
rs1481565343	p.Asp16Tyr	missense variant	-	NC_000007.14:g.97024578C>A	gnomAD
rs1209966732	p.Asp16Gly	missense variant	-	NC_000007.14:g.97024577T>C	gnomAD
rs1282604706	p.Phe17Leu	missense variant	-	NC_000007.14:g.97024573G>C	gnomAD
rs1358516425	p.Ala19Thr	missense variant	-	NC_000007.14:g.97024569C>T	TOPMed
rs751606335	p.Ala19Asp	missense variant	-	NC_000007.14:g.97024568G>T	ExAC,TOPMed,gnomAD
rs751606335	p.Ala19Gly	missense variant	-	NC_000007.14:g.97024568G>C	ExAC,TOPMed,gnomAD
rs1380318930	p.Pro20Arg	missense variant	-	NC_000007.14:g.97024565G>C	TOPMed,gnomAD
rs1380008091	p.Ala26Gly	missense variant	-	NC_000007.14:g.97024547G>C	gnomAD
rs762883258	p.Ala26Thr	missense variant	-	NC_000007.14:g.97024548C>T	ExAC,gnomAD
rs772980357	p.Met27Thr	missense variant	-	NC_000007.14:g.97024544A>G	ExAC,TOPMed,gnomAD
rs1321899766	p.His29Arg	missense variant	-	NC_000007.14:g.97024538T>C	gnomAD
rs1351019836	p.Pro30Arg	missense variant	-	NC_000007.14:g.97024535G>C	TOPMed
rs1387762480	p.Ser31Ala	missense variant	-	NC_000007.14:g.97024533A>C	gnomAD
rs1156699150	p.Gln32Glu	missense variant	-	NC_000007.14:g.97024530G>C	gnomAD
rs1241641626	p.Ser34Trp	missense variant	-	NC_000007.14:g.97024523G>C	TOPMed
rs1488221689	p.Pro35Arg	missense variant	-	NC_000007.14:g.97024520G>C	TOPMed
rs1027144136	p.Thr36Asn	missense variant	-	NC_000007.14:g.97024517G>T	TOPMed
rs775940925	p.Pro38Arg	missense variant	-	NC_000007.14:g.97024511G>C	ExAC
rs761561778	p.Pro38Ser	missense variant	-	NC_000007.14:g.97024512G>A	ExAC,gnomAD
RCV000144533	p.Glu39Ter	nonsense	Split-hand/foot malformation 1 (SHFM1)	NC_000007.14:g.97024509C>A	ClinVar
rs587777842	p.Glu39Ter	stop gained	-	NC_000007.14:g.97024509C>A	-
rs1442997651	p.Ser40Ala	missense variant	-	NC_000007.14:g.97024506A>C	gnomAD
rs1249997837	p.Ser41Leu	missense variant	-	NC_000007.14:g.97024502G>A	gnomAD
rs529675199	p.Thr43Asn	missense variant	-	NC_000007.14:g.97024496G>T	1000Genomes,ExAC,gnomAD
rs747497977	p.Asp44Ala	missense variant	-	NC_000007.14:g.97024493T>G	ExAC,TOPMed,gnomAD
rs780601695	p.Ser45Pro	missense variant	-	NC_000007.14:g.97024491A>G	ExAC,gnomAD
rs370973096	p.Asp46Glu	missense variant	-	NC_000007.14:g.97024486G>T	ESP,ExAC,TOPMed,gnomAD
rs746277945	p.Asp46Ala	missense variant	-	NC_000007.14:g.97024487T>G	ExAC,gnomAD
rs754104569	p.Thr51Arg	missense variant	-	NC_000007.14:g.97024472G>C	ExAC,gnomAD
rs897341603	p.Thr51Ala	missense variant	-	NC_000007.14:g.97024473T>C	TOPMed
rs754104569	p.Thr51Met	missense variant	-	NC_000007.14:g.97024472G>A	ExAC,gnomAD
rs756330186	p.Gly52Arg	missense variant	-	NC_000007.14:g.97024470C>G	ExAC,gnomAD
rs1438523956	p.Pro55Gln	missense variant	-	NC_000007.14:g.97024460G>T	gnomAD
rs1287089023	p.Pro55Ser	missense variant	-	NC_000007.14:g.97024461G>A	gnomAD
rs1438523956	p.Pro55Leu	missense variant	-	NC_000007.14:g.97024460G>A	gnomAD
rs1322581475	p.His56Gln	missense variant	-	NC_000007.14:g.97024456G>C	gnomAD
rs766476023	p.His56Pro	missense variant	-	NC_000007.14:g.97024457T>G	ExAC,gnomAD
rs1054920289	p.Gly57Ser	missense variant	-	NC_000007.14:g.97024455C>T	TOPMed
rs1422981819	p.Gly57Val	missense variant	-	NC_000007.14:g.97024454C>A	gnomAD
rs763009516	p.Tyr58Phe	missense variant	-	NC_000007.14:g.97024451T>A	ExAC,gnomAD
rs750148914	p.Cys59Arg	missense variant	-	NC_000007.14:g.97024449A>G	ExAC,TOPMed,gnomAD
rs765089599	p.Pro61Leu	missense variant	-	NC_000007.14:g.97024442G>A	ExAC,gnomAD
rs776399251	p.Thr62Pro	missense variant	-	NC_000007.14:g.97024440T>G	ExAC,TOPMed,gnomAD
rs776399251	p.Thr62Ala	missense variant	-	NC_000007.14:g.97024440T>C	ExAC,TOPMed,gnomAD
rs1298056608	p.Thr62Ile	missense variant	-	NC_000007.14:g.97024439G>A	TOPMed,gnomAD
rs140706964	p.Ser63Thr	missense variant	-	NC_000007.14:g.97024437A>T	ESP,TOPMed,gnomAD
rs924964248	p.Ala64Val	missense variant	-	NC_000007.14:g.97024433G>A	gnomAD
rs924964248	p.Ala64Gly	missense variant	-	NC_000007.14:g.97024433G>C	gnomAD
rs768147070	p.Ser65Phe	missense variant	-	NC_000007.14:g.97024430G>A	ExAC,gnomAD
rs1335939391	p.Ala69Thr	missense variant	-	NC_000007.14:g.97024419C>T	TOPMed
rs1489731491	p.Leu70Phe	missense variant	-	NC_000007.14:g.97024416G>A	gnomAD
rs1306382731	p.Pro72Leu	missense variant	-	NC_000007.14:g.97024409G>A	TOPMed
rs760216169	p.Gln74Arg	missense variant	-	NC_000007.14:g.97024403T>C	ExAC,gnomAD
rs1292811136	p.Tyr75Cys	missense variant	-	NC_000007.14:g.97024400T>C	gnomAD
rs746404550	p.Tyr77His	missense variant	-	NC_000007.14:g.97024395A>G	ExAC,TOPMed,gnomAD
rs147255037	p.Tyr77Cys	missense variant	-	NC_000007.14:g.97024394T>C	ESP,ExAC
rs1402821348	p.Gly79Cys	missense variant	-	NC_000007.14:g.97024389C>A	gnomAD
rs149635296	p.Val80Ala	missense variant	-	NC_000007.14:g.97024385A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149635296	p.Val80Glu	missense variant	-	NC_000007.14:g.97024385A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748192072	p.Gly82Ser	missense variant	-	NC_000007.14:g.97024380C>T	ExAC,gnomAD
rs781456431	p.Ser83Phe	missense variant	-	NC_000007.14:g.97024376G>A	ExAC,gnomAD
rs758348857	p.Ala84Pro	missense variant	-	NC_000007.14:g.97024374C>G	ExAC,TOPMed,gnomAD
rs750391934	p.Ala84Val	missense variant	-	NC_000007.14:g.97024373G>A	ExAC,TOPMed,gnomAD
rs758348857	p.Ala84Thr	missense variant	-	NC_000007.14:g.97024374C>T	ExAC,TOPMed,gnomAD
rs753398910	p.Gly85Arg	missense variant	-	NC_000007.14:g.97024371C>T	ExAC,gnomAD
rs1252989005	p.Gly85Ala	missense variant	-	NC_000007.14:g.97024370C>G	TOPMed,gnomAD
rs150866607	p.Ser86Arg	missense variant	-	NC_000007.14:g.97024366G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767020052	p.Tyr87His	missense variant	-	NC_000007.14:g.97024365A>G	ExAC,gnomAD
rs376161860	p.Pro88Ser	missense variant	-	NC_000007.14:g.97024362G>A	ESP,ExAC,TOPMed,gnomAD
rs376161860	p.Pro88Thr	missense variant	-	NC_000007.14:g.97024362G>T	ESP,ExAC,TOPMed,gnomAD
rs376161860	p.Pro88Ala	missense variant	-	NC_000007.14:g.97024362G>C	ESP,ExAC,TOPMed,gnomAD
rs141521941	p.Ala89Asp	missense variant	-	NC_000007.14:g.97024358G>T	ESP,ExAC,TOPMed,gnomAD
rs749709560	p.Ala91Ser	missense variant	-	NC_000007.14:g.97024353C>A	ExAC,gnomAD
rs1221605189	p.Tyr92Ter	stop gained	-	NC_000007.14:g.97024348A>C	TOPMed,gnomAD
rs1288684596	p.Ser96Thr	missense variant	-	NC_000007.14:g.97024337C>G	gnomAD
rs773469855	p.Ser96Arg	missense variant	-	NC_000007.14:g.97024336G>C	ExAC
rs1448447256	p.Ala98Pro	missense variant	-	NC_000007.14:g.97024332C>G	TOPMed
rs1371401203	p.Ser99Thr	missense variant	-	NC_000007.14:g.97024328C>G	gnomAD
rs770097670	p.Ser100Phe	missense variant	-	NC_000007.14:g.97024325G>A	ExAC,gnomAD
rs1405406449	p.Tyr101His	missense variant	-	NC_000007.14:g.97024323A>G	gnomAD
rs1214446522	p.His102Tyr	missense variant	-	NC_000007.14:g.97024320G>A	TOPMed,gnomAD
rs781358596	p.Tyr104Cys	missense variant	-	NC_000007.14:g.97024313T>C	ExAC,gnomAD
rs267601653	p.Gly105Ser	missense variant	-	NC_000007.14:g.97024311C>T	gnomAD
rs778952255	p.Ala107Thr	missense variant	-	NC_000007.14:g.97024305C>T	ExAC,gnomAD
rs778952255	p.Ala107Ser	missense variant	-	NC_000007.14:g.97024305C>A	ExAC,gnomAD
rs371127948	p.Tyr108Cys	missense variant	-	NC_000007.14:g.97024301T>C	ESP,ExAC,TOPMed,gnomAD
rs753621536	p.Arg110Cys	missense variant	-	NC_000007.14:g.97024296G>A	ExAC,gnomAD
rs763909664	p.Arg110His	missense variant	-	NC_000007.14:g.97024295C>T	ExAC,gnomAD
rs755697591	p.Val111Ala	missense variant	-	NC_000007.14:g.97024292A>G	ExAC,TOPMed,gnomAD
rs1201703397	p.Pro112Arg	missense variant	-	NC_000007.14:g.97024289G>C	gnomAD
rs1329819450	p.Pro112Ala	missense variant	-	NC_000007.14:g.97024290G>C	TOPMed
rs201841970	p.Ser113Gly	missense variant	-	NC_000007.14:g.97024287T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs766857960	p.Asn116Ser	missense variant	-	NC_000007.14:g.97024277T>C	ExAC,gnomAD
rs1314884805	p.Asn116His	missense variant	-	NC_000007.14:g.97024278T>G	gnomAD
rs773641315	p.Glu119Lys	missense variant	-	NC_000007.14:g.97024269C>T	ExAC,gnomAD
rs773641315	p.Glu119Gln	missense variant	-	NC_000007.14:g.97024269C>G	ExAC,gnomAD
rs752314719	p.Lys120Asn	missense variant	-	NC_000007.14:g.97022365T>G	ExAC,gnomAD
rs201233212	p.Val122Met	missense variant	-	NC_000007.14:g.97022361C>T	1000Genomes,ExAC,gnomAD
rs201233212	p.Val122Leu	missense variant	-	NC_000007.14:g.97022361C>G	1000Genomes,ExAC,gnomAD
rs372558150	p.Glu124Gly	missense variant	-	NC_000007.14:g.97022354T>C	ESP,ExAC,TOPMed,gnomAD
rs1373151196	p.Glu124Lys	missense variant	-	NC_000007.14:g.97022355C>T	gnomAD
rs765808270	p.Pro125Leu	missense variant	-	NC_000007.14:g.97022351G>A	ExAC,gnomAD
rs751038558	p.Pro125Ala	missense variant	-	NC_000007.14:g.97022352G>C	ExAC,gnomAD
rs1490255348	p.Val127Met	missense variant	-	NC_000007.14:g.97022346C>T	gnomAD
rs1207525482	p.Arg128Ser	missense variant	-	NC_000007.14:g.97022341T>A	gnomAD
rs185529928	p.Gly132Ser	missense variant	-	NC_000007.14:g.97022331C>T	1000Genomes,ExAC,gnomAD
rs765696769	p.Pro134Ala	missense variant	-	NC_000007.14:g.97022325G>C	ExAC,TOPMed,gnomAD
rs1302438635	p.Arg138Gly	missense variant	-	NC_000007.14:g.97022313G>C	gnomAD
rs1364069713	p.Tyr144Phe	missense variant	-	NC_000007.14:g.97022294T>A	gnomAD
rs1431242250	p.Ser145Cys	missense variant	-	NC_000007.14:g.97022291G>C	gnomAD
rs1300979300	p.Ser145Thr	missense variant	-	NC_000007.14:g.97022292A>T	gnomAD
rs999619472	p.Leu149Arg	missense variant	-	NC_000007.14:g.97022279A>C	TOPMed
rs1474403800	p.Ala150Val	missense variant	-	NC_000007.14:g.97022276G>A	gnomAD
rs1166739375	p.Ala150Ser	missense variant	-	NC_000007.14:g.97022277C>A	gnomAD
rs867714415	p.Ala151Ser	missense variant	-	NC_000007.14:g.97022274C>A	gnomAD
rs867714415	p.Ala151Thr	missense variant	-	NC_000007.14:g.97022274C>T	gnomAD
rs369530818	p.Leu152Phe	missense variant	-	NC_000007.14:g.97022269T>A	ESP,ExAC,TOPMed,gnomAD
rs1172649256	p.Gln153His	missense variant	-	NC_000007.14:g.97022266C>G	TOPMed
rs760840290	p.Lys158Asn	missense variant	-	NC_000007.14:g.97022251C>G	ExAC,gnomAD
rs1438538117	p.Thr159Ile	missense variant	-	NC_000007.14:g.97022249G>A	TOPMed,gnomAD
rs1347188617	p.Pro165Leu	missense variant	-	NC_000007.14:g.97022231G>A	gnomAD
rs376488297	p.Glu166Lys	missense variant	-	NC_000007.14:g.97022229C>T	ESP,ExAC,TOPMed,gnomAD
rs376488297	p.Glu166Gln	missense variant	-	NC_000007.14:g.97022229C>G	ESP,ExAC,TOPMed,gnomAD
rs769554704	p.Glu169Lys	missense variant	-	NC_000007.14:g.97022220C>T	ExAC,TOPMed,gnomAD
rs747888005	p.Glu169Ala	missense variant	-	NC_000007.14:g.97022219T>G	ExAC,TOPMed,gnomAD
rs769554704	p.Glu169Ter	stop gained	-	NC_000007.14:g.97022220C>A	ExAC,TOPMed,gnomAD
rs754590576	p.Ala172Val	missense variant	-	NC_000007.14:g.97022210G>A	ExAC,gnomAD
rs779599860	p.Ser173Leu	missense variant	-	NC_000007.14:g.97022207G>A	ExAC
RCV000022921	p.Gln178Pro	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss (SHFM1D)	NC_000007.14:g.97022192T>G	ClinVar
rs387906737	p.Gln178Pro	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)	NC_000007.14:g.97022192T>G	UniProt,dbSNP
VAR_067413	p.Gln178Pro	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)	NC_000007.14:g.97022192T>G	UniProt
rs387906737	p.Gln178Pro	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss (shfm1d)	NC_000007.14:g.97022192T>G	-
rs765898430	p.Thr179Ile	missense variant	-	NC_000007.14:g.97022189G>A	ExAC,TOPMed,gnomAD
RCV000144532	p.Gln186His	missense variant	Split-hand/foot malformation 1 (SHFM1)	NC_000007.14:g.97021048C>A	ClinVar
RCV000077764	p.Gln186His	missense variant	-	NC_000007.14:g.97021048C>A	ClinVar
rs398122527	p.Gln186His	missense variant	-	NC_000007.14:g.97021048C>A	-
rs199567160	p.Lys194Gln	missense variant	-	NC_000007.14:g.97021026T>G	ESP,ExAC,TOPMed,gnomAD
rs1224132623	p.Met196Arg	missense variant	-	NC_000007.14:g.97021019A>C	TOPMed
rs745523370	p.Asn198Tyr	missense variant	-	NC_000007.14:g.97021014T>A	ExAC,gnomAD
rs1257847065	p.Met201Ile	missense variant	-	NC_000007.14:g.97021003C>A	TOPMed
rs1356717816	p.Pro202Leu	missense variant	-	NC_000007.14:g.97021001G>A	gnomAD
rs145966633	p.Pro203Leu	missense variant	-	NC_000007.14:g.97020998G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146762155	p.Pro203Ser	missense variant	-	NC_000007.14:g.97020999G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146762155	p.Pro203Ala	missense variant	-	NC_000007.14:g.97020999G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs145966633	p.Pro203Arg	missense variant	-	NC_000007.14:g.97020998G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1406598149	p.Glu204Lys	missense variant	-	NC_000007.14:g.97020996C>T	gnomAD
rs752961858	p.Glu204Gly	missense variant	-	NC_000007.14:g.97020995T>C	ExAC,gnomAD
rs554250076	p.Glu204Asp	missense variant	-	NC_000007.14:g.97020994C>G	1000Genomes,ExAC,gnomAD
rs752961858	p.Glu204Ala	missense variant	-	NC_000007.14:g.97020995T>G	ExAC,gnomAD
rs751835694	p.Ser209Phe	missense variant	-	NC_000007.14:g.97020980G>A	ExAC,gnomAD
rs867858414	p.Asp211Asn	missense variant	-	NC_000007.14:g.97020975C>T	TOPMed,gnomAD
rs867858414	p.Asp211Tyr	missense variant	-	NC_000007.14:g.97020975C>A	TOPMed,gnomAD
rs1207061831	p.Met213Lys	missense variant	-	NC_000007.14:g.97020968A>T	TOPMed
rs1418047352	p.Met213Val	missense variant	-	NC_000007.14:g.97020969T>C	gnomAD
rs753795231	p.Trp224Arg	missense variant	-	NC_000007.14:g.97020936A>T	ExAC,gnomAD
rs1252587922	p.Pro226Ser	missense variant	-	NC_000007.14:g.97020930G>A	TOPMed,gnomAD
rs1252587922	p.Pro226Ala	missense variant	-	NC_000007.14:g.97020930G>C	TOPMed,gnomAD
rs760699921	p.Ser229Pro	missense variant	-	NC_000007.14:g.97020921A>G	ExAC,TOPMed,gnomAD
rs1270845196	p.Ser229Leu	missense variant	-	NC_000007.14:g.97020920G>A	gnomAD
rs142492086	p.Arg231His	missense variant	-	NC_000007.14:g.97020914C>T	ESP,ExAC,TOPMed,gnomAD
rs142492086	p.Arg231Leu	missense variant	-	NC_000007.14:g.97020914C>A	ESP,ExAC,TOPMed,gnomAD
rs867328272	p.Ser232Leu	missense variant	-	NC_000007.14:g.97020911G>A	gnomAD
rs867328272	p.Ser232Ter	stop gained	-	NC_000007.14:g.97020911G>T	gnomAD
rs35273378	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35273378	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>T	UniProt,dbSNP
VAR_033874	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>T	UniProt
rs1370130757	p.Ser234Asn	missense variant	-	NC_000007.14:g.97020905C>T	TOPMed
rs35273378	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1461577184	p.His236Tyr	missense variant	-	NC_000007.14:g.97020900G>A	gnomAD
rs143457052	p.His236Gln	missense variant	-	NC_000007.14:g.97020898G>T	ESP,ExAC,TOPMed,gnomAD
rs148894146	p.His238Asn	missense variant	-	NC_000007.14:g.97020894G>T	ESP,ExAC,TOPMed,gnomAD
rs758672181	p.His238Leu	missense variant	-	NC_000007.14:g.97020893T>A	ExAC,gnomAD
rs758672181	p.His238Pro	missense variant	-	NC_000007.14:g.97020893T>G	ExAC,gnomAD
rs200799043	p.Ala239Gly	missense variant	-	NC_000007.14:g.97020890G>C	1000Genomes,ExAC,gnomAD
rs200799043	p.Ala239Val	missense variant	-	NC_000007.14:g.97020890G>A	1000Genomes,ExAC,gnomAD
rs201666211	p.His240Tyr	missense variant	-	NC_000007.14:g.97020888G>A	1000Genomes,ExAC,gnomAD
rs1342821834	p.Pro241Ser	missense variant	-	NC_000007.14:g.97020885G>A	TOPMed
rs760475226	p.Thr243Ser	missense variant	-	NC_000007.14:g.97020878G>C	ExAC,gnomAD
rs1480065692	p.Ser244Cys	missense variant	-	NC_000007.14:g.97020875G>C	gnomAD
rs759444253	p.Gln246Arg	missense variant	-	NC_000007.14:g.97020869T>C	ExAC,gnomAD
rs770665967	p.Pro248Arg	missense variant	-	NC_000007.14:g.97020863G>C	ExAC,gnomAD
rs770665967	p.Pro248Leu	missense variant	-	NC_000007.14:g.97020863G>A	ExAC,gnomAD
rs762671104	p.Ala249Val	missense variant	-	NC_000007.14:g.97020860G>A	ExAC,gnomAD
rs376879283	p.Ser251Asn	missense variant	-	NC_000007.14:g.97020854C>T	ESP,ExAC,TOPMed,gnomAD
rs747295818	p.Tyr252His	missense variant	-	NC_000007.14:g.97020852A>G	TOPMed,gnomAD
rs768983389	p.Glu254Asp	missense variant	-	NC_000007.14:g.97020844C>G	ExAC,gnomAD
rs199725569	p.Glu254Gln	missense variant	-	NC_000007.14:g.97020846C>G	ExAC,TOPMed,gnomAD
rs369140826	p.Asn255Ser	missense variant	-	NC_000007.14:g.97020842T>C	ESP,TOPMed
rs1405931883	p.Trp259Cys	missense variant	-	NC_000007.14:g.97020829C>A	gnomAD
rs1374073922	p.Thr261Ala	missense variant	-	NC_000007.14:g.97020825T>C	TOPMed
rs760947489	p.Ser262Arg	missense variant	-	NC_000007.14:g.97020822T>G	ExAC,TOPMed,gnomAD
rs780431973	p.Ser262Arg	missense variant	-	NC_000007.14:g.97020820A>T	ExAC,TOPMed,gnomAD
rs1389940522	p.Ala263Val	missense variant	-	NC_000007.14:g.97020818G>A	TOPMed
rs758485182	p.Ala264Ser	missense variant	-	NC_000007.14:g.97020816C>A	ExAC,gnomAD
rs1159460574	p.Ser266Pro	missense variant	-	NC_000007.14:g.97020810A>G	gnomAD
rs1418095385	p.Ser266Ter	stop gained	-	NC_000007.14:g.97020809G>C	gnomAD
rs750674456	p.Ile267Val	missense variant	-	NC_000007.14:g.97020807T>C	ExAC,TOPMed,gnomAD
rs778847173	p.Asn268Ser	missense variant	-	NC_000007.14:g.97020803T>C	ExAC,TOPMed,gnomAD
rs532759180	p.His270Tyr	missense variant	-	NC_000007.14:g.97020798G>A	1000Genomes,ExAC,gnomAD
rs752650484	p.His270Arg	missense variant	-	NC_000007.14:g.97020797T>C	ExAC,TOPMed,gnomAD
rs752650484	p.His270Pro	missense variant	-	NC_000007.14:g.97020797T>G	ExAC,TOPMed,gnomAD
rs563982917	p.Pro272Leu	missense variant	-	NC_000007.14:g.97020791G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751332130	p.Pro274Leu	missense variant	-	NC_000007.14:g.97020785G>A	ExAC,gnomAD
rs199678276	p.Pro274Ala	missense variant	-	NC_000007.14:g.97020786G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs762498461	p.Gly275Val	missense variant	-	NC_000007.14:g.97020782C>A	ExAC,TOPMed,gnomAD
rs762498461	p.Gly275Asp	missense variant	-	NC_000007.14:g.97020782C>T	ExAC,TOPMed,gnomAD
rs761431045	p.Ser276Cys	missense variant	-	NC_000007.14:g.97020779G>C	ExAC,TOPMed,gnomAD
rs761431045	p.Ser276Phe	missense variant	-	NC_000007.14:g.97020779G>A	ExAC,TOPMed,gnomAD
rs887777137	p.Leu277Ser	missense variant	-	NC_000007.14:g.97020776A>G	TOPMed,gnomAD
rs1288589440	p.Gln278Glu	missense variant	-	NC_000007.14:g.97020774G>C	gnomAD
rs138650319	p.His279Tyr	missense variant	-	NC_000007.14:g.97020771G>A	ESP,ExAC,TOPMed,gnomAD
rs929373566	p.Pro280Leu	missense variant	-	NC_000007.14:g.97020767G>A	TOPMed,gnomAD
rs929373566	p.Pro280Arg	missense variant	-	NC_000007.14:g.97020767G>C	TOPMed,gnomAD
rs747524363	p.Leu283Val	missense variant	-	NC_000007.14:g.97020759G>C	ExAC,gnomAD
rs1430165038	p.Gly286Glu	missense variant	-	NC_000007.14:g.97020749C>T	gnomAD
rs1187192866	p.Gly286Arg	missense variant	-	NC_000007.14:g.97020750C>G	TOPMed
rs772549093	p.Thr287Arg	missense variant	-	NC_000007.14:g.97020746G>C	ExAC,gnomAD
rs775776434	p.Thr287Ser	missense variant	-	NC_000007.14:g.97020747T>A	ExAC,gnomAD
rs547131001	p.Leu288Phe	missense variant	-	NC_000007.14:g.97020744G>A	ExAC,gnomAD
rs1294274714	p.Leu288His	missense variant	-	NC_000007.14:g.97020743A>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005941	Bone Diseases, Developmental	group	CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE
C0016508	Congenital Foot Deformity	group	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE;HPO
C0024121	Lung Neoplasms	group	LHGDN
C0024299	Lymphoma	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035372	Rett Syndrome	disease	BEFREE;LHGDN
C0036572	Seizures	phenotype	BEFREE
C0037769	West Syndrome	disease	BEFREE
C0041408	Turner Syndrome	disease	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0221352	Syndactyly of fingers	disease	HPO
C0221373	Claw hand	disease	BEFREE;HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265554	Ectrodactyly	disease	BEFREE;MGD;ORPHANET
C0376634	Craniofacial Abnormalities	group	BEFREE;CTD_human
C0432028	Split foot	disease	BEFREE;HPO
C0598766	Leukemogenesis	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0740404	Limb defects	group	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1839730	Prieto X-linked mental retardation syndrome	disease	BEFREE
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1857344	Split-Hand-Foot Malformation With Sensorineural Hearing Loss	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1865295	Auriculo-condylar syndrome	disease	BEFREE
C2699510	Split-Hand/Foot Malformation	disease	BEFREE
C2931019	Split hand foot deformity 1	disease	BEFREE;CLINVAR;MGD
C2981150	Uranostaphyloschisis	disease	BEFREE
C3887496	Oligodactyly	disease	HPO
C3887898	Infantile Spasm	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	ISS
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	ISS
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0043565	sequence-specific DNA binding	IBA
GO:0044212	transcription regulatory region DNA binding	IDA
GO:0071837	HMG box domain binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	TAS
GO:0001649	osteoblast differentiation	ISS
GO:0001958	endochondral ossification	ISS
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007399	nervous system development	TAS
GO:0008283	cell population proliferation	IDA
GO:0021889	olfactory bulb interneuron differentiation	IEA
GO:0030154	cell differentiation	IBA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0030509	BMP signaling pathway	ISS
GO:0030855	epithelial cell differentiation	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048646	anatomical structure formation involved in morphogenesis	IBA
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0060021	roof of mouth development	IEA
GO:0060166	olfactory pit development	IEA
GO:0060325	face morphogenesis	IEA
GO:0071773	cellular response to BMP stimulus	ISS
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA
GO:0097376	interneuron axon guidance	IEA
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISS
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8878166	Transcriptional regulation by RUNX2	IEA
R-HSA-8939902	Regulation of RUNX2 expression and activity	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of DLX5 mRNA	29627306
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of DLX5 mRNA	31326446
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of DLX5 mRNA	19114083
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of DLX5 mRNA	25088246
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 DLX5 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 p-Chloromercuribenzoic 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 DLX5 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 DLX5 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of DLX5 mRNA	22485181
C014949	acetylhydrazine	acetylhydrazine results in decreased expression of DLX5 mRNA	15282401
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DLX5 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of DLX5 mRNA	24449571
D001280	Atrazine	Atrazine results in decreased expression of DLX5 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of DLX5 mRNA	29505797
D001374	Azacitidine	Azacitidine results in increased expression of DLX5 mRNA	17085970
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of DLX5 mRNA	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DLX5 mRNA	21839799
C006780	bisphenol A	bisphenol A affects the methylation of DLX5 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of DLX5 mRNA	12075121; 25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in increased expression of DLX5 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of DLX5 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of DLX5 mRNA	16239168
C010063	carbonyl sulfide	carbonyl sulfide results in increased expression of DLX5 mRNA	19395590
D002994	Clofibrate	Clofibrate results in decreased expression of DLX5 mRNA	17585979
D003471	Cuprizone	Cuprizone results in increased expression of DLX5 mRNA	26577399
C093628	cyproconazole	cyproconazole results in decreased expression of DLX5 mRNA	22045034
D003634	DDT	DDT results in increased expression of DLX5 mRNA	25014179
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of DLX5 mRNA	31326446
D000077209	Decitabine	Decitabine results in decreased expression of DLX5 mRNA	27915011
D003907	Dexamethasone	Dexamethasone results in decreased expression of DLX5 mRNA	25047013
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of DLX5 mRNA	26924002
D004041	Dietary Fats	Dietary Fats results in increased expression of DLX5 mRNA	25016146
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of DLX5 mRNA	25242112
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 DLX5 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 DLX5 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 DLX5 mRNA	27188386
D004967	Estrogens	Estrogens results in increased expression of DLX5 mRNA	25014179
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of DLX5 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DLX5 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DLX5 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of DLX5 mRNA	12075121
C024565	ethylene dichloride	ethylene dichloride results in increased expression of DLX5 mRNA	28189721
C061365	flusilazole	flusilazole results in increased expression of DLX5 mRNA	28263823
D004397	Fonofos	Fonofos results in increased methylation of DLX5 promoter	22847954
C069837	fullerene C60	fullerene C60 results in increased expression of DLX5 mRNA	19167457
D019833	Genistein	Genistein results in decreased expression of DLX5 mRNA	12075121
C409722	hexaconazole	hexaconazole results in decreased expression of DLX5 mRNA	22045034
D007649	Ketamine	Ketamine results in decreased expression of DLX5 mRNA	20080153
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of DLX5 mRNA	16807920
C042720	mercuric bromide	mercuric bromide results in increased expression of DLX5 mRNA	26272509
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 DLX5 mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in decreased expression of DLX5 mRNA	29802913
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of DLX5 mRNA	23179753; 26272509; 28001369;
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of DLX5 mRNA	26924002
D009020	Morphine	Morphine results in increased expression of DLX5 mRNA	21178816
C560625	N-(2-(3H-indol-3-yl)ethyl)-9-isopropyl-2-(5-methyl-3-pyridyl)purin-6-amine	N-(2-(3H-indol-3-yl)ethyl)-9-isopropyl-2-(5-methyl-3-pyridyl)purin-6-amine inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of DLX5 mRNA]	30203000
D009281	Naphthalenes	Naphthalenes results in increased expression of DLX5 protein	17337753
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of DLX5 mRNA	17616710
C025589	ochratoxin A	ochratoxin A results in decreased expression of DLX5 mRNA	20036863
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of DLX5 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of DLX5 mRNA	25729387
D010278	Parathion	Parathion results in increased methylation of DLX5 promoter	22847954
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 DLX5 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of DLX5 mRNA	26272509
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of DLX5 mRNA	30738844
D011374	Progesterone	Progesterone results in decreased expression of DLX5 mRNA	22238285
D011441	Propylthiouracil	Propylthiouracil results in increased expression of DLX5 mRNA	24780913
C010313	pseudocumene	pseudocumene results in increased expression of DLX5 protein	17337753
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of DLX5 mRNA	14500573
C017947	sodium arsenite	sodium arsenite results in increased expression of DLX5 mRNA	29301061
D013629	Tamoxifen	Tamoxifen affects the expression of DLX5 mRNA	17555576
C012568	terbufos	terbufos results in increased methylation of DLX5 promoter	22847954
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of DLX5 mRNA	31326446
C041181	tetrachlorodian	tetrachlorodian results in increased expression of DLX5 mRNA	31326446
D013749	Tetrachlorodibenzodioxin	N-(2-(3H-indol-3-yl)ethyl)-9-isopropyl-2-(5-methyl-3-pyridyl)purin-6-amine inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of DLX5 mRNA]	30203000
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DLX5 mRNA	30203000
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DLX5 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DLX5 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DLX5 mRNA	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLX5 mRNA	16962184; 17586704; 17942748; 20130022;
D019284	Thapsigargin	Thapsigargin results in decreased expression of DLX5 mRNA	22378314
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of DLX5 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of DLX5 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of DLX5 protein	17551590
D014212	Tretinoin	Tretinoin results in increased expression of DLX5 mRNA	20488242
C011559	tributyltin	tributyltin results in increased expression of DLX5 mRNA	29505797
C012589	trichostatin A	trichostatin A results in increased expression of DLX5 mRNA	24935251
D014415	Tunicamycin	Tunicamycin results in decreased expression of DLX5 mRNA	22378314; 29453283;
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 DLX5 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of DLX5 mRNA	23179753; 24383497; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased expression of DLX5 mRNA	22045034
D015032	Zinc	Zinc deficiency results in decreased expression of DLX5 mRNA	21893222

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0209	Deafness
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0892	Osteogenesis
KW-0597	Phosphoprotein
KW-0621	Polymorphism
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: DLX5

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

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