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    HOXD13 homeobox D13 [ Homo sapiens (human) ]

    Gene ID: 3239, updated on 26-Jun-2015
    Official Symbol
    HOXD13provided by HGNC
    Official Full Name
    homeobox D13provided by HGNC
    Primary source
    HGNC:HGNC:5136
    See related
    Ensembl:ENSG00000128714; HPRD:00872; MIM:142989; Vega:OTTHUMG00000132431
    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
    BDE; SPD; BDSD; HOX4I
    Summary
    This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
    Orthologs
    See HOXD13 in Epigenomics, MapViewer
    Location:
    2q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (176087505..176095938)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176957532..176960666)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KIAA1715 Neighboring gene even-skipped homeobox 2 Neighboring gene homeobox D12 Neighboring gene homeobox D11

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brachydactyly type D
    MedGen: C0220664 OMIM: 113200 GeneReviews: Not available
    Compare labs
    Brachydactyly type E1
    MedGen: C1862102 OMIM: 113300 GeneReviews: Not available
    Compare labs
    Brachydactyly-syndactyly syndrome
    MedGen: C1853137 OMIM: 610713 GeneReviews: Not available
    Compare labs
    Syndactyly type 5
    MedGen: C1861348 OMIM: 186300 GeneReviews: Not available
    Compare labs
    Synpolydactyly 1
    MedGen: C1861367 OMIM: 186000 GeneReviews: Not available
    Compare labs
    VATER association
    MedGen: C0220708 OMIM: 192350 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-02-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-23)

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    branch elongation of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindgut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelial fold IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of branching involved in prostate gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox protein Hox-D13
    Names
    homeobox protein Hox-D13
    homeo box 4I
    homeo box D13
    homeobox protein Hox-4I

    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_008137.1 RefSeqGene

      Range
      5001..8135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000523.3NP_000514.2  homeobox protein Hox-D13

      See identical proteins and their annotated locations for NP_000514.2

      Status: REVIEWED

      Source sequence(s)
      AC009336, BX100910
      Consensus CDS
      CCDS2264.2
      UniProtKB/Swiss-Prot
      P35453
      Related
      ENSP00000376322, OTTHUMP00000217534, ENST00000392539, OTTHUMT00000359256
      Conserved Domains (2) summary
      cd00086
      Location:277333
      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.
      pfam12284
      Location:125180
      HoxA13_N; Hox protein A13 N terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      176087505..176095938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511068.1XP_011509370.1  

      Conserved Domains (1) summary
      cd00086
      Location:258314
      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.
    2. XM_011511069.1XP_011509371.1  

    3. XM_011511070.1XP_011509372.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      176963384..176966518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)