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    SHOX short stature homeobox [ Homo sapiens (human) ]

    Gene ID: 6473, updated on 23-Apr-2017
    Official Symbol
    SHOXprovided by HGNC
    Official Full Name
    short stature homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:10853
    See related
    Ensembl:ENSG00000185960 MIM:312865; MIM:400020; Vega:OTTHUMG00000021053
    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
    SS; GCFX; PHOG; SHOXY
    Summary
    This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xp22.33 and Yp11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (624344..659411)
    108 current GRCh38.p7 (GCF_000001405.33) Y NC_000024.10 (624344..659411)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (585079..620146)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (535079..570146)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene fatty acid binding protein 5 pseudogene 13 Neighboring gene keratin 18 pseudogene 53 Neighboring gene ribosomal protein L14 pseudogene 5 Neighboring gene repetin pseudogene

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene fatty acid binding protein 5 pseudogene 13 Neighboring gene keratin 18 pseudogene 53 Neighboring gene ribosomal protein L14 pseudogene 5 Neighboring gene repetin pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-10-15)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-10-15)

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

    Markers

    Homology

    Preferred Names
    short stature homeobox protein
    Names
    growth control factor, X-linked
    pseudoautosomal homeobox-containing osteogenic protein

    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_009385.2 RefSeqGene

      Range
      5001..40068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000451.3NP_000442.1  short stature homeobox protein isoform SHOXa

      See identical proteins and their annotated locations for NP_000442.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (SHOXa).
      Source sequence(s)
      BX004827
      Consensus CDS
      CCDS14107.1
      UniProtKB/Swiss-Prot
      O15266
      UniProtKB/TrEMBL
      A0A024R385
      Related
      ENSP00000370990.1, ENST00000381578.6
      Conserved Domains (2) summary
      pfam00046
      Location:120173
      Homeobox; Homeobox domain
      pfam03826
      Location:272287
      OAR; OAR domain
    2. NM_006883.2NP_006874.1  short stature homeobox protein isoform SHOXb

      See identical proteins and their annotated locations for NP_006874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to transcript variant 1, and encodes a shorter isoform (SHOXb) with a different C-terminus compared to isoform SHOXa.
      Source sequence(s)
      BX004827
      Consensus CDS
      CCDS14106.1
      UniProtKB/Swiss-Prot
      O15266
      Related
      ENSP00000335505.3, ENST00000334060.8
      Conserved Domains (1) summary
      pfam00046
      Location:120173
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      624344..659411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p7 Primary Assembly

      Range
      624344..659411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      568610..603454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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