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HOXB9 homeobox B9 [ Homo sapiens (human) ]

Gene ID: 3219, updated on 18-May-2020

Summary

Official Symbol
HOXB9provided by HGNC
Official Full Name
homeobox B9provided by HGNC
Primary source
HGNC:HGNC:5120
See related
Ensembl:ENSG00000170689 MIM:142964
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; HOX2E; HOX-2.5
Summary
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 12.6), kidney (RPKM 7.0) and 3 other tissues See more
Orthologs

Genomic context

See HOXB9 in Genome Data Viewer
Location:
17q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48621156..48626358, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46698518..46703835, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene homeobox B7 Neighboring gene homeobox B8 Neighboring gene microRNA 196a-1 Neighboring gene translation initiation factor IF-2

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
embryonic skeletal system morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mammary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proximal/distal pattern formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein Hox-B9
Names
homeo box 2E
homeo box B9
homeobox protein Hox-2.5
homeobox protein Hox-2E

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_024017.5NP_076922.1  homeobox protein Hox-B9

    See identical proteins and their annotated locations for NP_076922.1

    Status: REVIEWED

    Source sequence(s)
    AK056123, AK056414, BC015565, BX114117, CA426693, DA696753
    Consensus CDS
    CCDS11534.1
    UniProtKB/Swiss-Prot
    P17482
    UniProtKB/TrEMBL
    B3KPJ1
    Related
    ENSP00000309439.5, ENST00000311177.7
    Conserved Domains (2) summary
    pfam00046
    Location:188241
    Homeobox; Homeobox domain
    pfam04617
    Location:1172
    Hox9_act; Hox9 activation region

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
    48621156..48626358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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