• Gene id: 3239

Gene Summary

• Gene Symbol: HOXD13   Gene   UCSC   Ensembl
• Aliases: BDE, BDSD, HOX4I, SPD, SPD1
• Gene name: homeobox D13
• Alternate names: homeobox protein Hox-D13, homeo box 4I, homeo box D13, homeobox protein Hox-4I, synpolydactyly,
• Gene location: 2q31.1 (176087486: 176095943)     Exons: 4     NC_000002.12
• Gene summary(Entrez): This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster
• OMIM: 142989

Protein Summary

• Protein general information: P35453  
  • Name: Homeobox protein Hox D13 (Homeobox protein Hox 4I)
  • Length: 343  
  • Mass: 36101
• Sequence:

  MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAAASGFA
  YPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNA
  LKSSPHASLGGFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYIS
  MEGYQSWTLANGWNSQVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKF
  INKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR022067  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000376322
• Other Databases: GeneCards:  HOXD13  Malacards:  HOXD13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA	biological process
GO:0060602	branch elongation of an epithelium	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:1990837	sequence-specific double-stranded DNA binding	IEA	molecular function
GO:0048619	embryonic hindgut morphogenesis	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0060571	morphogenesis of an epithelial fold	IEA	biological process
GO:0060527	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0022612	gland morphogenesis	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Brachydactyly	KEGG:H00482
Synpolydactyly	KEGG:H00459
Syndactyly	KEGG:H01095
Brachydactyly-syndactyly syndrome	KEGG:H00870
Brachydactyly	KEGG:H00482
Synpolydactyly	KEGG:H00459
Syndactyly	KEGG:H01095
VACTERL/VATER association	KEGG:H01195
Brachydactyly-syndactyly syndrome	KEGG:H00870
Brachydactyly	PMID:12649808
Brachydactyly	PMID:17236141
Cryptorchidism	PMID:17216618
Clubfoot	PMID:16331564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 17656229
Hypospadias	MIK: 31219235

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31219235	Hypospadias	c.G32C(p.G11A)	Chinese	137 cases	Male infertility	NGS
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
17656229	Hypospadias			125 affected	Male infertility