SHOX (short stature homeobox)

2016-10-01  

Identity

HGNC
LOCATION
Xp22.33
LOCUSID
ALIAS
GCFX,PHOG,SHOXY,SS
FUSION GENES

Other Information

Locus ID:

NCBI: 6473
MIM: 400020
HGNC: 10853
Ensembl: ENSG00000185960

Variants:

dbSNP: 6473
ClinVar: 6473
TCGA: ENSG00000185960
COSMIC: SHOX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185960ENST00000334060O15266
ENSG00000185960ENST00000381575O15266
ENSG00000185960ENST00000381578O15266
ENSG00000185960ENST00000381578A0A024R385

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
118892162002Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.39
118892162002Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.39
213258652011Short stature due to SHOX deficiency: genotype, phenotype, and therapy.39
171826552007Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.34
161755002005A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.33
172001532007Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.33
195780352009Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.32
120895242002Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.31
165976782006High incidence of SHOX anomalies in individuals with short stature.27
172018122007SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.25

Citation

Dessen P

SHOX (short stature homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56020/shox