HOXD9 - homeobox D9 Gene

Also Known as HOX4; HOX4C; Hox-4.3; Hox-5.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3235

About HOXD9

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,122,719-176,124,937 (from NCBI)

This gene has 1 transcript (splice variant), 201 orthologues and 42 paralogues. Biased expression in endometrium (RPKM 16.0), kidney (RPKM 11.1) 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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 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]

HOXD9 Products (1)

mRNA Protein Name
NM_014213.4 NP_055028.3 homeobox protein Hox-D9
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
1756725 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
1756725 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
1756725 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

HOXD9 Protein Structure

Hox9_act

Hox9_act: Hox9 activation region (11 - 125)

Homeobox

Homeobox: Homeobox domain (286 - 342)

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

homeobox protein Hox-D9

  • Hox-4.3, mouse, homolog of

Related Diseases

Diseases Alias
Synpolydactyly
  • Syndactyly Type 2

  • Syndactyly, Type 2

  • Spd

Ovarian Serous Cystadenofibroma
Ovarian Serous Adenofibroma
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

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
Hand-Foot-Genital Syndrome
  • Hand-Foot-Uterus Syndrome

  • Hfgs

  • Hfg Syndrome

  • Hfu Syndrome

  • HFG

  • Hfu

  • Hand Foot Uterus Syndrome

  • Hand Foot Genital Syndrome

Clubfoot
  • Congenital Talipes Equinovarus

  • Congenital Clubfoot

  • Congenital Equinovarus

  • Equinovarus Deformity Of Foot

  • Club Foot

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
Macaca mulatta HOXD9 VGNC VGNC:99370
Rattus norvegicus HOXD9 RGD RGD:1582908
Felis catus HOXD9 VGNC VGNC:80233
Mus musculus HOXD9 MGD MGI:96210
Bos taurus HOXD9 VGNC VGNC:29934
Others HOXD9 NCBI