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cytochrome P450 family 21 subfamily A member 2

Summary

Gene Symbol

CYP21A2

Aliases

CA21H
CAH1
CPS1
P450c21B
Steroid 21-monooxygenase

Organism

Homo sapiens (human)

External Links

NCBI Gene

1589

HGNC

2600

KEGG Gene ID

hsa:1589

PubChem

1589

Alliance of Genome Resources

HGNC:2600

Annotation

Keyword

3D-structure
Alternative splicing
Congenital adrenal hyperplasia
Disease variant
Heme
Lipid metabolism
Membrane
Microsome
Monooxygenase
Reference proteome
Signal
Steroid-binding
Steroidogenesis

Proteins

Displaying **all 2** entries
UniProt	Protein Name
P08686	21-OHase Cytochrome P-450c21 Cytochrome P450 21 Cytochrome P450 XXI Cytochrome P450-C21 Cytochrome P450-C21B
Q08AG9	21-OHase Cytochrome P-450c21 Cytochrome P450 21 Cytochrome P450 XXI Cytochrome P450-C21

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
sterol metabolic process
glucocorticoid biosynthetic process	IBA TAS
mineralocorticoid biosynthetic process
steroid biosynthetic process	IDA	25855791
steroid metabolic process	IMP	16984992

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process [inference]

mineralocorticoid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

hormone metabolic process [inference]

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

hormone biosynthetic process [inference]

mineralocorticoid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

sterol metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

sterol metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic cyclic compound metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

sterol metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic hydroxy compound metabolic process [inference]

sterol metabolic process

cellular process [inference]

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

mineralocorticoid metabolic process [inference]

mineralocorticoid biosynthetic process

hormone biosynthetic process [inference]

mineralocorticoid biosynthetic process

Displaying 1 entry
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
steroid 21-monooxygenase activity	IBA TAS
steroid binding	IEA
17-hydroxyprogesterone 21-hydroxylase activity	IDA	25855791
steroid hydroxylase activity	IMP	16984992
iron ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity

steroid 21-monooxygenase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

steroid 21-monooxygenase activity

binding [inference]

lipid binding [inference]

steroid binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

steroid binding

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000231852

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00513

Name

steroid 21-monooxygenase [EC:1.14.14.16]

References

Rhea

RHEA:50308

O₂ + 17α-hydroxyprogesterone

H₂O + H⁺ + 11-deoxycortisol

Enzyme

1.14.14.16

PMID

RHEA:50304

O₂ + progesterone

H₂O + H⁺ + 21-hydroxyprogesterone

Enzyme

1.14.14.16

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **146** in total

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DO ID	Disease Name	Source
DOID:0110754	type 1 diabetes mellitus 17	DisGeNET
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050461	aspartylglucosaminuria	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050742	nicotine dependence	DisGeNET
DOID:0050811	congenital adrenal hyperplasia	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency	DisGeNET
DOID:0060295	complement component 2 deficiency	DisGeNET
DOID:0060851	pemphigus vulgaris	DisGeNET
DOID:0090122	aromatase excess syndrome	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 12 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000127	Renal salt wasting
HP:0000765	Abnormal thorax morphology
HP:0000771	Gynecomastia
HP:0000822	Hypertension
HP:0000840	Adrenogenital syndrome
HP:0001507	Growth abnormality
HP:0001943	Hypoglycemia
HP:0001945	Fever

Displaying 1 entry
Disease ID	Disease Name
OMIM:201910	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PubChem Disease

GHR Health Conditions

21-hydroxylase deficiency

MedGen Diseases

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

OMIM Phenotypes

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

KEGG Diseases

Congenital adrenal hyperplasia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002365
Gene Name: cytochrome P450, family 21, subfamily A, polypeptide 2

Ortholog

Displaying entries **1 - 10** of 53 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Latimeria chalumnae	102346130		LATCH09965
Danio rerio	793249	ZFIN:ZDB-GENE-070103-6
Astyanax mexicanus	103037969		ASTMX10131
Ictalurus punctatus	108261472		ICTPU13836
Electrophorus electricus	113570604		ELEEL07324
Salmo trutta	115177506		SALTR85603
Salmo trutta	115185950		SALTR85603
Gadus morhua	115545507		GADMO50927
Oreochromis niloticus	100703376		ORENI06765
Sparus aurata	115567844		SPAAU57760

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements