Version 5.4
Homo sapiens Gene: SHOX
Summary
InnateDB Gene IDBG-39235.6
Last Modified 2014-10-13 [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-593368
short stature homeobox
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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:624344-659411
Strand Forward strand
Band p22.33
Transcripts
ENST00000381578 ENSP00000370990
ENST00000381575 ENSP00000370987
ENST00000334060 ENSP00000335505
ENST00000554971 ENSP00000452016
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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
Biological Process
GO:0001501 skeletal system development
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
Orthologs
No orthologs found for this gene
Cross-References
SwissProt O15266
TrEMBL A0A024R385
UniProt Splice Variant
Entrez Gene 6473
UniGene Hs.105932 Hs.673889
RefSeq NM_000451 NM_006883
HUGO HGNC:10853
OMIM 312865 400020
CCDS CCDS14107 CCDS14106
HPRD 02430
IMGT
EMBL BX004827 CH471225 U82668 U89331 Y11535 Y11536
GenPept AAC18820 CAA72298 CAA72299 EAW66816 EAW66817
RNA Seq Atlas 6473

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca