Identity
HGNC
LOCATION
Xp22.33
LOCUSID
ALIAS
GCFX,PHOG,SHOXY,SS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6473
MIM: 400020
HGNC: 10853
Ensembl: ENSG00000185960
Variants:
dbSNP: 6473
ClinVar: 6473
TCGA: ENSG00000185960
COSMIC: SHOX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185960 | ENST00000334060 | O15266 |
| ENSG00000185960 | ENST00000381575 | O15266 |
| ENSG00000185960 | ENST00000381578 | O15266 |
| ENSG00000185960 | ENST00000381578 | A0A024R385 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37750395 | 2024 | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. | 0 |
| 38580675 | 2024 | Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. | 0 |
| 37750395 | 2024 | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. | 0 |
| 38580675 | 2024 | Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. | 0 |
| 36672881 | 2023 | Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency. | 1 |
| 37107635 | 2023 | Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. | 0 |
| 37695807 | 2023 | Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. | 0 |
| 36672881 | 2023 | Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency. | 1 |
| 37107635 | 2023 | Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant. | 0 |
| 37695807 | 2023 | Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. | 0 |
| 34811950 | 2022 | Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis. | 5 |
| 35390795 | 2022 | Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study. | 2 |
| 34811950 | 2022 | Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis. | 5 |
| 35390795 | 2022 | Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study. | 2 |
| 32618131 | 2021 | Evidence 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/shox-(short-stature-homeobox)
