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

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PDB ID
2DJN
4RDU

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Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	Dlx5	13395	P70396	CPO	E13.5	Mus musculus	Publication	More>>
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	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>>

Showing 1 to 10 of 11 entries

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
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
rs35273378	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>T	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
VAR_033874	p.Ser234Arg	missense variant	-	NC_000007.14:g.97020904G>T	UniProt
rs1380318930	p.Pro20Arg	missense variant	-	NC_000007.14:g.97024565G>C	TOPMed,gnomAD
rs1298056608	p.Thr62Ile	missense variant	-	NC_000007.14:g.97024439G>A	TOPMed,gnomAD
rs1252989005	p.Gly85Ala	missense variant	-	NC_000007.14:g.97024370C>G	TOPMed,gnomAD
rs1221605189	p.Tyr92Ter	stop gained	-	NC_000007.14:g.97024348A>C	TOPMed,gnomAD
rs1214446522	p.His102Tyr	missense variant	-	NC_000007.14:g.97024320G>A	TOPMed,gnomAD
rs1438538117	p.Thr159Ile	missense variant	-	NC_000007.14:g.97022249G>A	TOPMed,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
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
rs747295818	p.Tyr252His	missense variant	-	NC_000007.14:g.97020852A>G	TOPMed,gnomAD
rs887777137	p.Leu277Ser	missense variant	-	NC_000007.14:g.97020776A>G	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
rs1386029295	p.Ser11Gly	missense variant	-	NC_000007.14:g.97024593T>C	TOPMed
rs1019627015	p.Arg13Gln	missense variant	-	NC_000007.14:g.97024586C>T	TOPMed

Showing 1 to 20 of 228 entries

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Disease or phenotype associated information

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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

Showing 1 to 20 of 43 entries

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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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

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GO:Biological Process

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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

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GO:Cellular Component

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

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Reactome Pathway

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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

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of DLX5 mRNA	23179753; 26272509; 28001369;
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of DLX5 mRNA	25088246
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;
C010063	carbonyl sulfide	carbonyl sulfide results in increased expression of DLX5 mRNA	19395590
C010313	pseudocumene	pseudocumene results in increased expression of DLX5 protein	17337753
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of DLX5 mRNA	31326446
C011559	tributyltin	tributyltin results in increased expression of DLX5 mRNA	29505797
C012568	terbufos	terbufos results in increased methylation of DLX5 promoter	22847954
C012589	trichostatin A	trichostatin A results in increased expression of DLX5 mRNA	24935251
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of DLX5 mRNA	17616710
C014949	acetylhydrazine	acetylhydrazine results in decreased expression of DLX5 mRNA	15282401
C017947	sodium arsenite	sodium arsenite results in increased expression of DLX5 mRNA	29301061
C018475	butyraldehyde	butyraldehyde results in increased expression of DLX5 mRNA	26079696
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of DLX5 mRNA	31326446
C024565	ethylene dichloride	ethylene dichloride results in increased expression of DLX5 mRNA	28189721
C025589	ochratoxin A	ochratoxin A results in decreased expression of DLX5 mRNA	20036863
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of DLX5 mRNA	26924002
C041181	tetrachlorodian	tetrachlorodian results in increased expression of DLX5 mRNA	31326446
C042720	mercuric bromide	mercuric bromide results in increased expression of DLX5 mRNA	26272509

Showing 1 to 20 of 91 entries

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Functional annotations

Keywords

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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-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0892	Osteogenesis
KW-1185	Reference proteome

Showing 1 to 15 of 15 entries

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Interpro

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InterPro ID	InterPro Term
IPR000047	HTH_motif
IPR001356	Homeobox_dom
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR020479	Homeobox_metazoa
IPR022135	Distal-less_N

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PROSITE

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PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

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Pfam

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Pfam ID	Pfam Term
PF00046	Homeodomain
PF12413	DLL_N

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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