Homo sapiens Gene: SHOX

Summary
InnateDB Gene IDBG-39235.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SHOX
Gene Name short stature homeobox
Synonyms GCFX; PHOG; SHOXY; SS
Species Homo sapiens
Ensembl Gene ENSG00000185960
Encoded Proteins
IDBP-39237 short stature homeobox
IDBP-39239 short stature homeobox
IDBP-39241 short stature homeobox
IDBP-590202 short stature homeobox
IDBP-593368 short stature homeobox
IDBP-601574 short stature homeobox
IDBP-596636 short stature homeobox
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 X: 585079-620146
Strand Forward strand
Band p22.33
Transcripts
ENST00000381578  ENSP00000370990
ENST00000381575  ENSP00000370987
ENST00000334060  ENSP00000335505
ENST00000559808  ENSP00000453617
ENST00000554971  ENSP00000452016
ENST00000560001  ENSP00000453707
ENST00000558872  ENSP00000453225
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
 
Gene Ontology
Accession GO Term
Molecular Function
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
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O15266 
TrEMBL H0YLI9 H0YMI2 H0YMR3
UniProt Splice Variant
Entrez Gene 6473 
UniGene Hs.105932 Hs.673889
RefSeq NM_000451  NM_006883 
HUGO 10853 
OMIM 312865 400020
CCDS CCDS14106  CCDS14107 
HPRD 02430
IMGT
EMBL BX004827 U82668 U89331 Y11535 Y11536
GenPept AAC18820  CAA72298  CAA72299 
ImmGen SHOX (murine) 
RNA Seq Atlas 6473