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HOXB5 homeobox B5 [ Homo sapiens (human) ]

Gene ID: 3215, updated on 2-Aug-2021

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
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Genomic context

See HOXB5 in Genome Data Viewer
Location:
17q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48591257..48593779, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46668619..46671141, 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis identifies new childhood obesity loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_002147.4NP_002138.1  homeobox protein Hox-B5

    See identical proteins and their annotated locations for NP_002138.1

    Status: REVIEWED

    Source sequence(s)
    AC103702, BC117247, BQ001097, CN264645, M92299
    Consensus CDS
    CCDS11530.1
    UniProtKB/Swiss-Prot
    P09067
    Related
    ENSP00000239151.4, ENST00000239151.6
    Conserved Domains (2) summary
    PRK07003
    Location:67171
    PRK07003; DNA polymerase III subunit gamma/tau
    pfam00046
    Location:198251
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    48591257..48593779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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