1. Gene
  2. HOXB8 - homeobox B8 Gene

HOXB8 - homeobox B8 Gene

Homo sapiens

Also known as HOX2; HOX2D; Hox-2.4

Gene ID: 3218 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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