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HOXB5 homeobox B5 [ Homo sapiens (human) ]

Gene ID: 3215, updated on 20-Jan-2019

Summary

Official Symbol
HOXB5provided by HGNC
Official Full Name
homeobox B5provided by HGNC
Primary source
HGNC:HGNC:5116
See related
Ensembl:ENSG00000120075 MIM:142960
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]
Expression
Biased expression in kidney (RPKM 6.1), colon (RPKM 5.0) and 13 other tissues See more
Orthologs

Genomic context

See HOXB5 in Genome Data Viewer
Location:
17q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat'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
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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

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_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
    ENSP00000239151.4, ENST00000239151.5
    Conserved Domains (2) summary
    pfam00046
    Location:198250
    Homeobox; Homeobox domain
    cl26386
    Location:67171
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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