CYP21A2 (cytochrome P450 family 21 subfamily A member 2)

2003-11-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
CA21H,CAH1,CPS1,CYP21,CYP21B,P450c21B

Other Information

Locus ID:

NCBI: 1589
MIM: 613815
HGNC: 2600
Ensembl: ENSG00000231852

Variants:

dbSNP: 1589
ClinVar: 1589
TCGA: ENSG00000231852
COSMIC: CYP21A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000231852ENST00000435122P08686
ENSG00000231852ENST00000466779E7ERT7
ENSG00000231852ENST00000469053F8WBR4
ENSG00000231852ENST00000471671E7EN87
ENSG00000231852ENST00000478281E7EVC0
ENSG00000231852ENST00000644719Q16874

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGhsa_M00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGhsa_M00109
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGM00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGM00109
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Mineralocorticoid biosynthesisREACTOMER-HSA-193993
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
252491832015Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.63
209265362011Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.46
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
192087302009Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.28
129156792003CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.27
129156792003CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.27
178782542007Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.26
191582342009Role of angiotensin II-induced rapid response genes in the regulation of enzymes needed for aldosterone synthesis.26
172753792007Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.25

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