CYP21A2 (cytochrome P450 family 21 subfamily A member 2)

2003-11-01

Identity

HGNC

CYP21A2

LOCATION

6p21.33

LOCUSID

1589

ALIAS

CA21H,CAH1,CPS1,CYP21,CYP21B,P450c21B

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

Gene ID	Transcript ID	Uniprot
ENSG00000231852	ENST00000435122	P08686
ENSG00000231852	ENST00000466779	E7ERT7
ENSG00000231852	ENST00000469053	F8WBR4
ENSG00000231852	ENST00000471671	E7EN87
ENSG00000231852	ENST00000478281	E7EVC0
ENSG00000231852	ENST00000644719	Q16874

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Expression (GTEx)

500

1000

1500

2000

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

Pathways

Pathway	Source	External ID
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Biological oxidations	REACTOME	R-HSA-211859
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone	KEGG	hsa_M00108
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone	KEGG	M00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone	KEGG	hsa_M00109
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone	KEGG	M00109
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Endogenous sterols	REACTOME	R-HSA-211976
Glucocorticoid biosynthesis	REACTOME	R-HSA-194002

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
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
35094236	2024	Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.	0
35094236	2024	Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.	0
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
36259452	2023	Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.	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

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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