HOXB8 - homeobox B8 Gene

Also Known as HOX2; HOX2D; Hox-2.4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3218

About HOXB8

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,612,346-48,615,292 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 42 paralogues. Biased expression in kidney (RPKM 4.3), colon (RPKM 4.2) and 7 other tissues.

Summary

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal Cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]

HOXB8 Products (1)

mRNA Protein Name
NM_024016.4 NP_076921.1 homeobox protein Hox-B8
Molecular Function GO Annotation Evidence References Source
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

HOXB8 Protein Structure

Homeobox

Homeobox: Homeobox domain (147 - 203)

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

homeobox protein Hox-B8

  • homeo box 2D

Related Diseases

Diseases Alias
Trichotillomania
  • TTM

  • Hair-Pulling Syndrome

  • Compulsive Hair Plucking

  • Hair Pulling Disorder

Impulse Control Disorder
  • Disruptive, Impulse Control, And Conduct Disorders

Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Body Dysmorphic Disorder
  • Dysmorphophobia

  • Body Dysmorphia

  • Dysmorphic Syndrome

  • Body Dysmorphic Disorders

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

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 HOXB8 VGNC VGNC:99082
Rattus norvegicus HOXB8 RGD RGD:1586211
Macaca mulatta HOXB8 VGNC VGNC:73505
Bos taurus HOXB8 VGNC VGNC:106771
Mus musculus HOXB8 MGD MGI:96189
Canis familiaris HOXB8 VGNC VGNC:41754
Others HOXB8 NCBI