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HOXB13 homeobox B13 [ Homo sapiens (human) ]

Gene ID: 10481, updated on 13-Feb-2019

Summary

Official Symbol
HOXB13provided by HGNC
Official Full Name
homeobox B13provided by HGNC
Primary source
HGNC:HGNC:5112
See related
Ensembl:ENSG00000159184 MIM:604607
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
HPC9; PSGD
Summary
This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]
Expression
Biased expression in prostate (RPKM 57.5) and colon (RPKM 27.9) See more
Orthologs

Genomic context

See HOXB13 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 (48724763..48728749, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46802125..46806111, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PRAC2 small nuclear protein Neighboring gene PRAC1 small nuclear protein Neighboring gene microRNA 3185 Neighboring gene uncharacterized LOC105371811 Neighboring gene uncharacterized LOC105371812

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?

Phenotypes

Associated conditions

Description Tests
Prostate cancer, hereditary, 9
MedGen: C1970250 OMIM: 610997 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
epithelial cell maturation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
response to wounding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

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.

Genomic

  1. NG_033789.1 RefSeqGene

    Range
    5001..8987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_771

mRNA and Protein(s)

  1. NM_006361.5NP_006352.2  homeobox protein Hox-B13

    See identical proteins and their annotated locations for NP_006352.2

    Status: REVIEWED

    Source sequence(s)
    AY937237, BC070233
    Consensus CDS
    CCDS11536.1
    UniProtKB/Swiss-Prot
    Q92826
    UniProtKB/TrEMBL
    Q4KR72
    Related
    ENSP00000290295.7, ENST00000290295.7
    Conserved Domains (2) summary
    smart00389
    Location:216272
    HOX; Homeodomain
    pfam12284
    Location:12121
    HoxA13_N; Hox protein A13 N terminal

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
    48724763..48728749 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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