HOXD12 - homeobox D12 Gene

Also Known as HOX4H

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3238

About HOXD12

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,099,795-176,102,489 (from NCBI)

This gene has 2 transcripts (splice variants), 189 orthologues and 42 paralogues. Low expression observed in reference dataset.

Summary

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 clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]

HOXD12 Products (1)

mRNA	Protein	Name
NM_021193.4	NP_067016.3	homeobox protein Hox-D12

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOXD12 Protein Structure

Homeobox

0
100
200
270 a.a.

Protein Preferred Names	Protein Names
homeobox protein Hox-D12	Hox-4.7, mouse, homolog of

HOXD12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HOXD12	P35452	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Brachydactyly-Syndactyly Syndrome	BDSD Brachydactyly-Syndactyly-Oligodactyly Syndrome Brachydactyly-Syndactyly, Zhao Type BDSDO
Syndactyly, Type V	Syndactyly Type 5 SDTY5 Syndactyly With Metacarpal And Metatarsal Fusion Syndactyly With Associated Metacarpal And Metatarsal Fusion Postaxial Syndactyly With Metacarpal Synostosis Sd5 Syndactyly 5 Syndactyly Type V
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Hypoplastic Or Aplastic Tibia With Polydactyly Absence Of Tibia With Polydactyly Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome THYP Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia Absent Tibia-Polydactyly Syndrome Werner Mesomelic Syndrome Hypoplastic Tibiae-Postaxial Polydactyly Syndrome Polydactyly With Absent Tibia Werner Mesomelic Spectrum Hypoplasia Or Aplasia Of Tibia With Polydactyly Wms Tibia, Hypoplasia Of, With Polydactyly
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Metacarpal 4-5 Fusion	Syndactyly Type 8 MF4 Fusion Of Metacarpals 4 And 5 Metacarpals 4 And 5 Fusion Metacarpal 4 5 Fusion
Brachydactyly
Brachydactyly, Type E1	Brachydactyly Type E1 Brachydactyly Type E BDE1 Brachydactyly, Type E Bde Type E Brachydactyly Brachydactyly E1 Brachydactyly Syndrome Type E
Brachydactyly, Type D	Brachydactyly Type D BDD Stub Thumb Brachydactyly D
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06325	HOXD12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HOXD12	MGD	MGI:96204
Canis familiaris	HOXD12	VGNC	VGNC:41764
Felis catus	HOXD12	VGNC	VGNC:107558
Rattus norvegicus	HOXD12	RGD	RGD:1309797
Bos taurus	HOXD12	VGNC	VGNC:29932
Macaca mulatta	HOXD12	VGNC	VGNC:73508
Others	HOXD12	NCBI