Homo sapiens Gene: SHOX
InnateDB Gene IDBG-744697.1
Last Modified 2013-04-25 [Report errors or provide feedback]
Gene Symbol SHOX
Gene Name short stature homeobox
Species Homo sapiens
Ensembl Gene ENSG00000185960
Encoded Proteins
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome Y:535079-570146
Strand Forward strand
Band p11.32
ENST00000554971 ENSP00000452016
ENST00000381575 ENSP00000370987
ENST00000381578 ENSP00000370990
ENST00000560001 ENSP00000453707
ENST00000559808 ENSP00000453617
ENST00000334060 ENSP00000335505
ENST00000558872 ENSP00000453225
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0001501 skeletal system development
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
No orthologs found for this gene
SwissProt O15266
UniProt Splice Variant
Entrez Gene 6473
UniGene Hs.105932 Hs.673889
RefSeq NM_000451 NM_006883
HUGO 10853
OMIM 312865 400020
CCDS CCDS14106 CCDS14107
EMBL BX004827 U82668 U89331 Y11535 Y11536
GenPept AAC18820 CAA72298 CAA72299
ImmGen SHOX (murine)
RNA Seq Atlas 6473