1. Gene
  2. HOXD10 - homeobox D10 Gene

HOXD10 - homeobox D10 Gene

Homo sapiens

Also known as HOX4; HOX4D; HOX4E; Hox-4.4

Gene ID: 3236 | Gene type: protein coding

About HOXD10

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,116,778-176,119,937 (from NCBI)

This gene has 3 transcripts (splice variants), 208 orthologues, 42 paralogues and is associated with 3 phenotypes. Biased expression in endometrium (RPKM 21.4), kidney (RPKM 9.2) and 4 other tissues.

Summary

This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

HOXD10 Products(1)

mRNA Protein Name
NM_002148.4 NP_002139.2 homeobox protein Hox-D10

HOXD10 Protein Structure

Homeobox

Homeobox: Homeobox domain (267 - 323)

  • 0
  • 100
  • 200
  • 300
  • 340 a.a.
Protein Preferred Names Protein Names

homeobox protein Hox-D10

homeo box 4D

Related Diseases

Diseases Alias
Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Congenital Vertical Talus, Unilateral
Congenital Vertical Talus, Bilateral
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS

Brachydactyly
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

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
Felis catus HOXD10 VGNC VGNC:67631
Mus musculus HOXD10 MGD MGI:96202
Canis familiaris HOXD10 VGNC VGNC:41762
Macaca mulatta HOXD10 VGNC VGNC:99368
Rattus norvegicus HOXD10 RGD RGD:1306511
Bos taurus HOXD10 VGNC VGNC:29930