InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXD13

Summary

InnateDB Protein

IDBP-245458.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HOXD13

Protein Name

homeobox D13

Synonyms

BDE; BDSD; HOX4I; SPD;

Species

Homo sapiens

Ensembl Protein

ENSP00000376322

InnateDB Gene

IDBG-75658 (HOXD13)

Protein Structure

UniProt Annotation

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular Localization

Nucleus.

Disease Associations

Synpolydactyly 1 (SPD1) [MIM:186000]: Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. {ECO:0000269PubMed:12414828, ECO:0000269PubMed:8817328}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brachydactyly D (BDD) [MIM:113200]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. {ECO:0000269PubMed:12649808}. Note=The disease is caused by mutations affecting the gene represented in this entry.Syndactyly 5 (SDTY5) [MIM:186300]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. {ECO:0000269PubMed:17236141}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brachydactyly-syndactyly syndrome (BDSD) [MIM:610713]: A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. {ECO:0000269PubMed:17236141}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brachydactyly E1 (BDE1) [MIM:113300]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals. {ECO:0000269PubMed:12649808}. Note=The disease is caused by mutations affecting the gene represented in this entry.VACTERL association (VACTERL) [MIM:192350]: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. {ECO:0000269PubMed:19006232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	3 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001501	skeletal system development
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007275	multicellular organismal development
GO:0007389	pattern specification process
GO:0009952	anterior/posterior pattern specification
GO:0022612	gland morphogenesis
GO:0030326	embryonic limb morphogenesis
GO:0030539	male genitalia development
GO:0035108	limb morphogenesis
GO:0042127	regulation of cell proliferation
GO:0042733	embryonic digit morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048619	embryonic hindgut morphogenesis
GO:0060527	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
GO:0060571	morphogenesis of an epithelial fold
GO:0060602	branch elongation of an epithelium
GO:0060687	regulation of branching involved in prostate gland morphogenesis