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: 8820
MIM: 601802
HGNC: 4877
Ensembl: ENSG00000163666
Variants:
dbSNP: 8820
ClinVar: 8820
TCGA: ENSG00000163666
COSMIC: HESX1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | KEGG | hsa04550 |
| Signaling pathways regulating pluripotency of stem cells | KEGG | ko04550 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33451138 | 2021 | Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. | 1 |
| 33451138 | 2021 | Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. | 1 |
| 28734020 | 2017 | Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. | 7 |
| 28734020 | 2017 | Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. | 7 |
| 27000987 | 2016 | HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. | 10 |
| 27000987 | 2016 | HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. | 10 |
| 25500790 | 2015 | Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. | 16 |
| 26111865 | 2015 | Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. | 5 |
| 25500790 | 2015 | Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. | 16 |
| 26111865 | 2015 | Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. | 5 |
| 23199197 | 2013 | Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. | 14 |
| 23465708 | 2013 | Identification of HESX1 mutations in Kallmann syndrome. | 10 |
| 23199197 | 2013 | Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. | 14 |
| 23465708 | 2013 | Identification of HESX1 mutations in Kallmann syndrome. | 10 |
| 21270112 | 2011 | Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. | 30 |
Citation
Dessen P
HESX1 (HESX homeobox 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47304/hesx1
