CYP21A2 G292S [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5601946
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 XXIB, CPS1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P08686 CYP21A2
Gene Names
CYP21A2, CYP21, CYP21B
Chain
chain:1-495
Reference Genes
BioGPS Gene:1589 CYP21A2
COSMIC (genes):CYP21A2 CYP21A2
CTD Gene:1589 CYP21A2
dbSNP Gene:1589 CYP21A2
ENSEMBL:ENSG00000231852 CYP21A2
HGNC:2600 CYP21A2
Monarch:1589 CYP21A2
NCBI Gene:1589 CYP21A2
OMIM:613815 CYP21A2
UCSC:P08686 CYP21A2
Reference Transcript
Other Identifiers
11729997_a_at
11738994_a_at
1589
17007178
17028240
17031103
17035809
17038330
17041090
214622_PM_at
214622_at
247_s_at
2903035
2903036
2903037
2903038
2903039
2903040
2903041
2903042
2903043
2903044
2903045
2903046
2903047
2903048
2903049
2903050
2903051
2903052
2903053
2903054
2903055
2903056
8118498
8178177
8179440
A_14_P138696
A_23_P257478
A_33_P3411279
GE61457
GO:0003824
GO:0004497
GO:0004508
GO:0004509
GO:0005496
GO:0005506
GO:0005783
GO:0005789
GO:0006629
GO:0006694
GO:0006704
GO:0006705
GO:0008202
GO:0008289
GO:0008395
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0042445
GO:0042446
GO:0042448
GO:0043226
GO:0046872
GO:0103069
GO:0106309
HMNXSV003025090
HMNXSV003033663
Hs.278430.0.S2_3p_at
ILMN_1773082
M17252_at
M26856_s_at
PH_hs_0029576
TC06000391.hg
TC06000393.hg
TC06002721.hg
TC6_cox_hap2000085.hg
TC6_dbb_hap3000076.hg
TC6_dbb_hap3000079.hg
TC6_mcf_hap5000069.hg
TC6_mcf_hap5000071.hg
TC6_qbl_hap6000072.hg
TC6_ssto_hap7000069.hg
Participates
as a member of
Other forms of this molecule
CYP21A2 [endoplasmic reticulum membrane]
CYP21A2 Q318* [endoplasmic reticulum membrane]
CYP21A2 W406* [endoplasmic reticulum membrane]
CYP21A2 V237E [endoplasmic reticulum membrane]
CYP21A2 E380D [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 292 replaced with L-serine
Coordinate
292
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name Identifier Synonyms
adrenal gland disease DOID:9553
Cross References
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC - FDA approved
ZINC - Substances
ZINC target
PRO
PDB
HPA
Pharos - Targets
Orphanet
HMDB Protein
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