1. Gene
  2. HOXD12 - homeobox D12 Gene

HOXD12 - homeobox D12 Gene

Homo sapiens

Also known as HOX4H

Gene ID: 3238 | Gene type: protein coding

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

HOXD12 Protein Structure

Homeobox

Homeobox: Homeobox domain (203 - 259)

  • 0
  • 100
  • 200
  • 270 a.a.
Protein Preferred Names Protein Names

homeobox protein Hox-D12

Hox-4.7, mouse, homolog of

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

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