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HOXB8 homeobox B8 [ Homo sapiens (human) ]

Gene ID: 3218, updated on 1-Jun-2020

Summary

Official Symbol
HOXB8provided by HGNC
Official Full Name
homeobox B8provided by HGNC
Primary source
HGNC:HGNC:5119
See related
Ensembl:ENSG00000120068 MIM:142963
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOX2; HOX2D; Hox-2.4
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]
Expression
Biased expression in kidney (RPKM 4.3), colon (RPKM 4.2) and 7 other tissues See more
Orthologs

Genomic context

See HOXB8 in Genome Data Viewer
Location:
17q21.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48612346..48619531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46689708..46692474, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene homeobox B6 Neighboring gene homeobox B7 Neighboring gene homeobox B9 Neighboring gene microRNA 196a-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
dorsal spinal cord development IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
grooming behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myeloid cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
homeobox protein Hox-B8
Names
homeo box 2D
homeo box B8
homeobox protein Hox-2.4
homeobox protein Hox-2D

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024016.4NP_076921.1  homeobox protein Hox-B8

    See identical proteins and their annotated locations for NP_076921.1

    Status: REVIEWED

    Source sequence(s)
    AC103702, AI277015, AI672407, AK096222, AW612644, BF761142
    Consensus CDS
    CCDS11533.1
    UniProtKB/Swiss-Prot
    P17481
    UniProtKB/TrEMBL
    Q8N8T3
    Related
    ENSP00000239144.4, ENST00000239144.5
    Conserved Domains (1) summary
    pfam00046
    Location:150203
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48612346..48619531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024564.2XP_016880053.1  homeobox protein Hox-B8 isoform X1

    UniProtKB/Swiss-Prot
    P17481
    Conserved Domains (1) summary
    pfam00046
    Location:150203
    Homeobox; Homeobox domain
  2. XM_005257286.3XP_005257343.1  homeobox protein Hox-B8 isoform X2

    See identical proteins and their annotated locations for XP_005257343.1

    UniProtKB/TrEMBL
    I3L3R1
    Related
    ENSP00000460659.1, ENST00000576562.1
    Conserved Domains (1) summary
    pfam00046
    Location:149202
    Homeobox; Homeobox domain
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