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SHOX short stature homeobox [ Homo sapiens (human) ]

Gene ID: 6473, updated on 15-Sep-2014
Official Symbol
SHOXprovided by HGNC
Official Full Name
short stature homeoboxprovided by HGNC
Primary source
HGNC:HGNC:10853
See related
Ensembl:ENSG00000185960; HPRD:02430; MIM:312865; MIM:400020
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]
Annotation information
Annotation category: partial on reference assembly
See SHOX in Epigenomics, MapViewer
Location:
Xp22.33;Yp11.3
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (624344..659411)
106 current GRCh38 (GCF_000001405.26) 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 protein phosphatase 2, regulatory subunit B'', beta Neighboring gene uncharacterized LOC102723840 Neighboring gene ribosomal protein L14 pseudogene 5 Neighboring gene repetin pseudogene

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2, regulatory subunit B'', beta Neighboring gene uncharacterized LOC102724521 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 (2013-07-31)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-31)

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
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
short stature homeobox protein
Names
short stature homeobox protein
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_009385.1 

    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 proteins identical to 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/TrEMBL
    A0A024R385
    UniProtKB/Swiss-Prot
    O15266
    Related
    ENSP00000370990, ENST00000381578
    Conserved Domains (2) summary
    cd00086
    Location:118176
    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.
    pfam03826
    Location:269289
    OAR; OAR domain
  2. NM_006883.2NP_006874.1  short stature homeobox protein isoform SHOXb

    See proteins identical to 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, ENST00000334060
    Conserved Domains (1) summary
    cd00086
    Location:118176
    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.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    624344..659411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NC_000023.11 

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

RNA

  1. XR_247322.1 RNA Sequence

  2. XR_247282.1 RNA Sequence

Alternate HuRef

Genomic

  1. NW_001841157.1 

    Range
    1273536..1307480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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