SHOX (short stature homeobox)

2016-10-01  

Identity

HGNC
SHOX
LOCATION
Xp22.33
LOCUSID
6473
ALIAS
GCFX,PHOG,SHOXY,SS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
377503952024SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.0
385806752024Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.0
377503952024SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.0
385806752024Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.0
366728812023Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.1
371076352023Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.0
376958072023Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.0
366728812023Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.1
371076352023Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.0
376958072023Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.0
348119502022Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.5
353907952022Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.2
348119502022Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.5
353907952022Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.2
326181312021Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome.1

Citation

Dessen P

SHOX (short stature homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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