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    HOXB13 homeobox B13 [ Homo sapiens (human) ]

    Gene ID: 10481, updated on 10-Dec-2024

    Summary

    Official Symbol
    HOXB13provided by HGNC
    Official Full Name
    homeobox B13provided by HGNC
    Primary source
    HGNC:HGNC:5112
    See related
    Ensembl:ENSG00000159184 MIM:604607; AllianceGenome:HGNC:5112
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See HOXB13 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48724763..48728750, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49588364..49592351, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46802125..46806112, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PRAC2 small nuclear protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46799826-46800340 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46800341-46800856 Neighboring gene PRAC1 small nuclear protein Neighboring gene microRNA 3185 Neighboring gene uncharacterized LOC105371811 Neighboring gene uncharacterized LOC105371812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46829979-46830896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46830949-46831938

    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
    Prostate cancer, hereditary, 9
    MedGen: C1970250 OMIM: 610997 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006361.6NP_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
      B2R878, Q92826, Q96QM4, Q99810
      UniProtKB/TrEMBL
      Q4KR72, V5QRV9
      Related
      ENSP00000290295.8, ENST00000290295.8
      Conserved Domains (2) summary
      smart00389
      Location:216272
      HOX; Homeodomain
      pfam12284
      Location:12121
      HoxA13_N; Hox protein A13 N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48724763..48728750 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49588364..49592351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)