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CYP11B2 V386A [mitochondrial inner membrane]
Stable Identifier
R-HSA-5600650
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Synonyms
Cytochrome P450 11B2, CPN2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP11B2 causes CMO-1 deficiency (Homo sapiens)
Defective CYP11B2 does not oxidise 11DCORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
CYP11B2 V386A [mitochondrial inner membrane] (Homo sapiens)
Defective CYP11B2 does not oxidise 18HCORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
CYP11B2 V386A [mitochondrial inner membrane] (Homo sapiens)
Defective CYP11B2 does not oxidise CORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
CYP11B2 V386A [mitochondrial inner membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P19099 CYP11B2
Gene Names
CYP11B2
Chain
transit peptide:1-24, chain:25-503
Reference Genes
BioGPS Gene:1585 CYP11B2
COSMIC (genes):CYP11B2 CYP11B2
CTD Gene:1585 CYP11B2
dbSNP Gene:1585 CYP11B2
ENSEMBL:ENSG00000179142 CYP11B2
ENSEMBL_homo_sapiens_GENE:ENSG00000179142.2 CYP11B2
HGNC:2592 CYP11B2
KEGG Gene (Homo sapiens):1585 CYP11B2
Monarch:1585 CYP11B2
NCBI Gene:1585 CYP11B2
OMIM:124080 CYP11B2
UCSC:P19099 CYP11B2
Reference Transcript
RefSeq:NM_000498.3 CYP11B2
Other Identifiers
11742070_at
1412_g_at
1585
17082001
214630_3p_at
214630_PM_at
214630_at
3157221
3157223
3157226
3157232
3157234
3157242
3157243
3157244
3157245
3157246
3157247
3157248
3157249
3157251
3157253
3157254
3157255
3157256
3157257
3157258
3157259
3157260
32342_at
34549_g_at
8153373
A_23_P215997
GE59810
GO:0002017
GO:0003013
GO:0003014
GO:0003091
GO:0003824
GO:0004497
GO:0004507
GO:0005506
GO:0005739
GO:0005743
GO:0006629
GO:0006694
GO:0006700
GO:0006704
GO:0006705
GO:0008202
GO:0008203
GO:0008395
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0032342
GO:0032870
GO:0034650
GO:0034651
GO:0035865
GO:0043226
GO:0046872
GO:0047783
GO:0050886
GO:0055065
GO:0055075
GO:0055078
GO:0071375
GO:1901615
HMNXSV003012949
Hs.184927.0.S2_3p_at
Hs.184927.0.S2_3p_x_at
Hs2.377912.1.S1_3p_s_at
ILMN_1752099
M32879_s_at
PH_hs_0034248
TC08001709.hg
X54741_at
Participates
as a member of
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
Other forms of this molecule
CYP11B2 T185I [mitochondrial inner membrane]
CYP11B2 R141_L142dup [mitochondrial inner membrane]
CYP11B2 R181W [mitochondrial inner membrane]
CYP11B2 [mitochondrial inner membrane]
CYP11B2 T498A [mitochondrial inner membrane]
CYP11B2 E255* [mitochondrial inner membrane]
CYP11B2 L461P [mitochondrial inner membrane]
Modified Residues
Name
L-valine 386 replaced with L-alanine
Coordinate
386
PsiMod
L-alanine residue [MOD:00010]
A protein modification that effectively converts a source amino acid residue to an L-alanine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name
Identifier
Synonyms
steroid inherited metabolic disorder
DOID:1701
Cross References
RefSeq
NP_000489.3
ZINC - World Drugs
C11B2_HUMAN
Guide to Pharmacology - Targets
1360
OpenTargets
ENSG00000179142
ZINC - FDA approved
C11B2_HUMAN
ZINC - Substances
C11B2_HUMAN
ZINC target
P19099
ZINC - Biogenic
C11B2_HUMAN
PRO
P19099
PDB
6XZ9
,
4FDH
,
4DVQ
,
7M8I
,
7M8V
,
6XZ8
,
4ZGX
ZINC - Investigational
C11B2_HUMAN
IntEnz
1.14.15.5
HPA
ENSG00000179142-CYP11B2
GeneCards
P19099
Ensembl
ENSG00000179142
,
ENSP00000325822
,
ENST00000323110
Pharos - Targets
P19099
Orphanet
15835
ZINC - Predictions - Purchasable
C11B2_HUMAN
HMDB Protein
HMDBP05268
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