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: 1589
MIM: 613815
HGNC: 2600
Ensembl: ENSG00000231852
Variants:
dbSNP: 1589
ClinVar: 1589
TCGA: ENSG00000231852
COSMIC: CYP21A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35094236 | 2024 | Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia. | 0 |
| 37815751 | 2024 | Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. | 0 |
| 35094236 | 2024 | Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia. | 0 |
| 37815751 | 2024 | Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. | 0 |
| 36259452 | 2023 | Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. | 0 |
| 37324257 | 2023 | The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. | 1 |
| 37553728 | 2023 | Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. | 0 |
| 36259452 | 2023 | Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. | 0 |
| 37324257 | 2023 | The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. | 1 |
| 37553728 | 2023 | Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. | 0 |
| 34341969 | 2022 | Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population. | 1 |
| 34743977 | 2022 | 17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses. | 0 |
| 34748434 | 2022 | Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts. | 4 |
| 35289513 | 2022 | Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia. | 3 |
| 35882282 | 2022 | Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | 2 |
Citation
Dessen P
CYP21A2 (cytochrome P450 family 21 subfamily A member 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40238/cyp21a2
