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HOXB5 homeobox B5 [ Homo sapiens (human) ]

Gene ID: 3215, updated on 26-May-2016
Official Symbol
HOXB5provided by HGNC
Official Full Name
homeobox B5provided by HGNC
Primary source
HGNC:HGNC:5116
See related
Ensembl:ENSG00000120075 HPRD:00848; MIM:142960; Vega:OTTHUMG00000159913
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; HU-1; HOX2A; Hox2.1; HHO.C10
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 lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
Orthologs
Location:
17q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (48591257..48593741, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46668619..46671103, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene homeobox B3 Neighboring gene homeobox B4 Neighboring gene microRNA 10a Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene homeobox B6 Neighboring gene homeobox B7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis identifies new childhood obesity loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein Hox-B5
Names
homeo box 2A
homeo box B5
homeobox protein HHO.C10
homeobox protein Hox-2A
homeobox protein Hu-1

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_002147.3NP_002138.1  homeobox protein Hox-B5

    See identical proteins and their annotated locations for NP_002138.1

    Status: REVIEWED

    Source sequence(s)
    BC004454, BE621135, BQ001097, BQ073272, M86726, M92299
    Consensus CDS
    CCDS11530.1
    UniProtKB/Swiss-Prot
    P09067
    Related
    ENSP00000239151, OTTHUMP00000216977, ENST00000239151, OTTHUMT00000358148
    Conserved Domains (1) summary
    cd00086
    Location:195253
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    48591257..48593741 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    46734583..46737067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)