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SHOX short stature homeobox [ Homo sapiens (human) ]

Gene ID: 6473, updated on 28-May-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

  • 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 Jun 15 11:32:44 2016

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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