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  2. HOXD8 - homeobox D8 Gene

HOXD8 - homeobox D8 Gene

Homo sapiens

Also known as HOX4; HOX4E; HOX5.4

Gene ID: 3234 | Gene type: protein coding

About HOXD8

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,129,705-176,132,695 (from NCBI)

This gene has 4 transcripts (splice variants), 119 orthologues and 42 paralogues. Biased expression in kidney (RPKM 23.0), ovary (RPKM 9.5) and 10 other tissues.

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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

HOXD8 Products(3)

mRNA Protein Name
NM_001199746.2 NP_001186675.1 homeobox protein Hox-D8 isoform 2
NM_001199747.2 NP_001186676.1 homeobox protein Hox-D8 isoform 3
NM_019558.4 NP_062458.1 homeobox protein Hox-D8 isoform 1

HOXD8 Protein Structure

Homeobox

Homeobox: Homeobox domain (198 - 254)

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

homeobox protein Hox-D8

Hox-4.5

Related Diseases

Diseases Alias
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

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 HOXD8 MGD MGI:96209
Felis catus HOXD8 VGNC VGNC:80232
Bos taurus HOXD8 VGNC VGNC:106772
Canis familiaris HOXD8 VGNC VGNC:41766
Macaca mulatta HOXD8 VGNC VGNC:99369
Rattus norvegicus HOXD8 RGD RGD:6489440