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P08686

- CP21A_HUMAN

UniProt

P08686 - CP21A_HUMAN

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Protein

Steroid 21-hydroxylase

Gene

CYP21A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.

Catalytic activityi

A C(21) steroid + (reduced NADPH--hemoprotein reductase) + O2 = a 21-hydroxy-C(21)-steroid + (oxidized NADPH--hemoprotein reductase) + H2O.

Cofactori

Heme group.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi428 – 4281Iron (heme axial ligand)

GO - Molecular functioni

  1. heme binding Source: InterPro
  2. iron ion binding Source: InterPro
  3. steroid 21-monooxygenase activity Source: UniProtKB-EC
  4. steroid binding Source: UniProtKB-KW
  5. steroid hydroxylase activity Source: ProtInc

GO - Biological processi

  1. glucocorticoid biosynthetic process Source: Reactome
  2. mineralocorticoid biosynthetic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
  4. steroid metabolic process Source: Reactome
  5. sterol metabolic process Source: Reactome
  6. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Steroidogenesis

Keywords - Ligandi

Heme, Iron, Lipid-binding, Metal-binding, Steroid-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS09769-MONOMER.
ReactomeiREACT_11036. Glucocorticoid biosynthesis.
REACT_11047. Mineralocorticoid biosynthesis.
REACT_13812. Endogenous sterols.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroid 21-hydroxylase (EC:1.14.99.10)
Alternative name(s):
21-OHase
Cytochrome P-450c21
Cytochrome P450 21
Cytochrome P450 XXI
Cytochrome P450-C21
Cytochrome P450-C21B
Gene namesi
Name:CYP21A2
Synonyms:CYP21, CYP21B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:2600. CYP21A2.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Adrenal hyperplasia 3 (AH3) [MIM:201910]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic).48 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 Publications
Corresponds to variant rs63749090 [ dbSNP | Ensembl ].
VAR_026059
Natural varianti30 – 301P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 Publications
VAR_001281
Natural varianti30 – 301P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication
VAR_026060
Natural varianti56 – 561G → R in AH3; loss of activity. 1 Publication
VAR_065668
Natural varianti62 – 621H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 Publications
VAR_018364
Natural varianti64 – 641G → E in AH3; no activity. 1 Publication
VAR_007923
Natural varianti77 – 771I → T in AH3; simple virilizing form. 1 Publication
VAR_065669
Natural varianti90 – 901G → V in AH3. 1 Publication
VAR_026061
Natural varianti105 – 1051P → L in AH3. 2 Publications
VAR_001284
Natural varianti107 – 1071L → R in AH3; loss of activity. 1 Publication
VAR_065670
Natural varianti121 – 1211K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 Publication
VAR_065671
Natural varianti124 – 1241R → H in AH3. 1 Publication
Corresponds to variant rs72552750 [ dbSNP | Ensembl ].
VAR_026062
Natural varianti142 – 1421L → P in AH3; loss of activity. 1 Publication
VAR_065672
Natural varianti167 – 1671L → P in AH3; salt wasting form; loss of activity. 1 Publication
VAR_065673
Natural varianti169 – 1691C → Y in AH3. 1 Publication
VAR_001285
Natural varianti172 – 1721I → N in AH3; simple virilizing form; 1-4% activity. 26 Publications
VAR_001286
Natural varianti178 – 1781G → A in AH3. 1 Publication
Corresponds to variant rs72552751 [ dbSNP | Ensembl ].
VAR_026063
Natural varianti196 – 1961Missing in AH3; moderate. 1 Publication
VAR_008688
Natural varianti211 – 2111V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication
VAR_026064
Natural varianti230 – 2301I → T in AH3. 1 Publication
VAR_065674
Natural varianti233 – 2331R → K in AH3. 1 Publication
VAR_065675
Natural varianti236 – 2361I → N in AH3; salt wasting form. 5 Publications
VAR_001288
Natural varianti237 – 2371V → E in AH3; salt wasting form. 3 Publications
Corresponds to variant rs12530380 [ dbSNP | Ensembl ].
VAR_001289
Natural varianti239 – 2391M → K in AH3; salt wasting form. 3 Publications
Corresponds to variant rs6476 [ dbSNP | Ensembl ].
VAR_001290
Natural varianti261 – 2611L → P in AH3. 1 Publication
VAR_026065
Natural varianti281 – 2811V → G in AH3; salt wasting form. 1 Publication
VAR_026066
Natural varianti281 – 2811V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 22 Publications
Corresponds to variant rs6471 [ dbSNP | Ensembl ].
VAR_001292
Natural varianti283 – 2831M → L in AH3. 1 Publication
VAR_026067
Natural varianti291 – 2911G → C in AH3. 1 Publication
VAR_026068
Natural varianti291 – 2911G → R in AH3. 1 Publication
VAR_018365
Natural varianti291 – 2911G → S in AH3; salt wasting form; less then 1% activity. 6 Publications
VAR_001293
Natural varianti292 – 2921G → D in AH3; salt wasting form; less then 1% activity. 1 Publication
VAR_065676
Natural varianti300 – 3001L → F in AH3; salt wasting form. 1 Publication
VAR_026069
Natural varianti301 – 3011S → Y in AH3. 1 Publication
VAR_018366
Natural varianti317 – 3171L → M in AH3. 1 Publication
VAR_026071
Natural varianti320 – 3201E → K in AH3; simple virilizing form; 4% activity. 1 Publication
VAR_065677
Natural varianti339 – 3391R → H in AH3; non-classic form; 50% activity. 1 Publication
VAR_001294
Natural varianti341 – 3411R → P in AH3; simple virilizing form. 3 Publications
VAR_018367
Natural varianti341 – 3411R → W in AH3; non-classic form; mild.
VAR_001295
Natural varianti354 – 3541R → C in AH3; salt wasting form. 1 Publication
VAR_026072
Natural varianti354 – 3541R → H in AH3; salt wasting form. 2 Publications
VAR_026073
Natural varianti356 – 3561R → P in AH3; salt wasting form; 0.15% activity. 1 Publication
VAR_001296
Natural varianti356 – 3561R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 Publications
VAR_001297
Natural varianti356 – 3561R → W in AH3; salt wasting form. 21 Publications
VAR_001298
Natural varianti362 – 3621A → V in AH3; no activity. 1 Publication
VAR_007924
Natural varianti363 – 3631L → W in AH3. 1 Publication
VAR_026074
Natural varianti365 – 3651H → Y in AH3. 1 Publication
VAR_026075
Natural varianti369 – 3691R → W in AH3. 1 Publication
VAR_065678
Natural varianti380 – 3801E → D in AH3; salt wasting form. 1 Publication
VAR_001299
Natural varianti408 – 4081R → C in AH3; very low residual activity. 3 Publications
VAR_026077
Natural varianti424 – 4241G → S in AH3; very low activity. 4 Publications
VAR_026078
Natural varianti426 – 4261R → H in AH3; exhibit only low enzyme activity toward 17-hydroxyprogesterone. 2 Publications
VAR_026079
Natural varianti435 – 4351R → C in AH3. 1 Publication
VAR_026080
Natural varianti453 – 4531P → S in AH3; non-classic form; simple virilizing form when associated with L-62; 50% of activity; almost completely abolished enzyme activity when associated with S-375. 18 Publications
Corresponds to variant rs6445 [ dbSNP | Ensembl ].
VAR_001300
Natural varianti479 – 4791R → L in AH3. 1 Publication
VAR_026081
Natural varianti482 – 4821P → S in AH3; reduced enzyme activity to 70% of normal. 1 Publication
VAR_026082
Natural varianti483 – 4831R → P in AH3; moderate; 1-2% of activity. 7 Publications
VAR_001301
Natural varianti483 – 4831R → Q in AH3. 1 Publication
VAR_018368
Natural varianti483 – 4831R → W in AH3; salt wasting form. 1 Publication
VAR_026083

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi268 – 2681S → C, M or T: No loss of function. 1 Publication
Mutagenesisi281 – 2811V → I: Normal KM but 50% reduced Vmax.
Mutagenesisi281 – 2811V → T: Normal KM but 10% reduced Vmax.
Mutagenesisi428 – 4281C → M, S or T: Loss of activity and loss of P450 absorption. 1 Publication

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

MIMi201910. phenotype.
Orphaneti315306. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form.
315311. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form.
95698. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
PharmGKBiPA27096.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 494494Steroid 21-hydroxylasePRO_0000051976Add
BLAST

Proteomic databases

PaxDbiP08686.
PRIDEiP08686.

PTM databases

PhosphoSiteiP08686.

Expressioni

Gene expression databases

CleanExiHS_CYP21A2.
ExpressionAtlasiP08686. baseline.
GenevestigatoriP08686.

Organism-specific databases

HPAiHPA048979.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000403721.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2GEGmodel-C27-494[»]
ProteinModelPortaliP08686.
SMRiP08686. Positions 28-483.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni342 – 35817Steroid-bindingBy similarityAdd
BLAST

Domaini

The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiCOG2124.
HOVERGENiHBG106944.
InParanoidiP08686.
KOiK00513.
OMAiNIMQWNT.
PhylomeDBiP08686.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P08686) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLLGLLLLP LLAGARLLWN WWKLRSLHLP PLAPGFLHLL QPDLPIYLLG
60 70 80 90 100
LTQKFGPIYR LHLGLQDVVV LNSKRTIEEA MVKKWADFAG RPEPLTYKLV
110 120 130 140 150
SKNYPDLSLG DYSLLWKAHK KLTRSALLLG IRDSMEPVVE QLTQEFCERM
160 170 180 190 200
RAQPGTPVAI EEEFSLLTCS IICYLTFGDK IKDDNLMPAY YKCIQEVLKT
210 220 230 240 250
WSHWSIQIVD VIPFLRFFPN PGLRRLKQAI EKRDHIVEMQ LRQHKESLVA
260 270 280 290 300
GQWRDMMDYM LQGVAQPSME EGSGQLLEGH VHMAAVDLLI GGTETTANTL
310 320 330 340 350
SWAVVFLLHH PEIQQRLQEE LDHELGPGAS SSRVPYKDRA RLPLLNATIA
360 370 380 390 400
EVLRLRPVVP LALPHRTTRP SSISGYDIPE GTVIIPNLQG AHLDETVWER
410 420 430 440 450
PHEFWPDRFL EPGKNSRALA FGCGARVCLG EPLARLELFV VLTRLLQAFT
460 470 480 490
LLPSGDALPS LQPLPHCSVI LKMQPFQVRL QPRGMGAHSP GQNQ
Length:494
Mass (Da):55,887
Last modified:January 1, 1988 - v1
Checksum:i7E1FF83B59FBA136
GO
Isoform 2 (identifier: P08686-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-6: L → LL
     68-102: VVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSK → KLVSR

Note: No experimental confirmation available.

Show »
Length:465
Mass (Da):52,597
Checksum:i467E740266FFCE89
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti155 – 1551G → D in BAB70774. (PubMed:14702039)Curated
Sequence conflicti242 – 2421R → G in BAB70774. (PubMed:14702039)Curated
Sequence conflicti277 – 2771L → Q in BAB70774. (PubMed:14702039)Curated
Sequence conflicti304 – 3041V → A in BAB70774. (PubMed:14702039)Curated
Sequence conflicti311 – 3111P → L in AAA59985. (PubMed:3497399)Curated
Sequence conflicti346 – 3461N → I in AAA59985. (PubMed:3497399)Curated
Sequence conflicti426 – 4261R → P in AAB59440. (PubMed:3486422)Curated
Sequence conflicti437 – 4371E → D in AAB59440. (PubMed:3486422)Curated

Polymorphismi

Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91L → LL in allele CYP21A2*2. 4 Publications
VAR_018363
Natural varianti15 – 151A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 Publications
Corresponds to variant rs63749090 [ dbSNP | Ensembl ].
VAR_026059
Natural varianti30 – 301P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 Publications
VAR_001281
Natural varianti30 – 301P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication
VAR_026060
Natural varianti56 – 561G → R in AH3; loss of activity. 1 Publication
VAR_065668
Natural varianti62 – 621H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 Publications
VAR_018364
Natural varianti64 – 641G → E in AH3; no activity. 1 Publication
VAR_007923
Natural varianti77 – 771I → T in AH3; simple virilizing form. 1 Publication
VAR_065669
Natural varianti90 – 901G → V in AH3. 1 Publication
VAR_026061
Natural varianti98 – 981K → R.
VAR_001282
Natural varianti102 – 1021K → R in allele CYP21A2*3. 3 Publications
VAR_001283
Natural varianti105 – 1051P → L in AH3. 2 Publications
VAR_001284
Natural varianti107 – 1071L → R in AH3; loss of activity. 1 Publication
VAR_065670
Natural varianti121 – 1211K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 Publication
VAR_065671
Natural varianti124 – 1241R → H in AH3. 1 Publication
Corresponds to variant rs72552750 [ dbSNP | Ensembl ].
VAR_026062
Natural varianti142 – 1421L → P in AH3; loss of activity. 1 Publication
VAR_065672
Natural varianti167 – 1671L → P in AH3; salt wasting form; loss of activity. 1 Publication
VAR_065673
Natural varianti169 – 1691C → Y in AH3. 1 Publication
VAR_001285
Natural varianti172 – 1721I → N in AH3; simple virilizing form; 1-4% activity. 26 Publications
VAR_001286
Natural varianti178 – 1781G → A in AH3. 1 Publication
Corresponds to variant rs72552751 [ dbSNP | Ensembl ].
VAR_026063
Natural varianti183 – 1831D → E in allele CYP21A2*4.
Corresponds to variant rs1040310 [ dbSNP | Ensembl ].
VAR_001287
Natural varianti196 – 1961Missing in AH3; moderate. 1 Publication
VAR_008688
Natural varianti211 – 2111V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication
VAR_026064
Natural varianti230 – 2301I → T in AH3. 1 Publication
VAR_065674
Natural varianti233 – 2331R → K in AH3. 1 Publication
VAR_065675
Natural varianti236 – 2361I → N in AH3; salt wasting form. 5 Publications
VAR_001288
Natural varianti237 – 2371V → E in AH3; salt wasting form. 3 Publications
Corresponds to variant rs12530380 [ dbSNP | Ensembl ].
VAR_001289
Natural varianti239 – 2391M → K in AH3; salt wasting form. 3 Publications
Corresponds to variant rs6476 [ dbSNP | Ensembl ].
VAR_001290
Natural varianti261 – 2611L → P in AH3. 1 Publication
VAR_026065
Natural varianti268 – 2681S → T in allele CYP21A2*5. 4 Publications
Corresponds to variant rs6472 [ dbSNP | Ensembl ].
VAR_001291
Natural varianti281 – 2811V → G in AH3; salt wasting form. 1 Publication
VAR_026066
Natural varianti281 – 2811V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 22 Publications
Corresponds to variant rs6471 [ dbSNP | Ensembl ].
VAR_001292
Natural varianti283 – 2831M → L in AH3. 1 Publication
VAR_026067
Natural varianti291 – 2911G → C in AH3. 1 Publication
VAR_026068
Natural varianti291 – 2911G → R in AH3. 1 Publication
VAR_018365
Natural varianti291 – 2911G → S in AH3; salt wasting form; less then 1% activity. 6 Publications
VAR_001293
Natural varianti292 – 2921G → D in AH3; salt wasting form; less then 1% activity. 1 Publication
VAR_065676
Natural varianti300 – 3001L → F in AH3; salt wasting form. 1 Publication
VAR_026069
Natural varianti301 – 3011S → Y in AH3. 1 Publication
VAR_018366
Natural varianti304 – 3041V → M in hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme. 1 Publication
VAR_026070
Natural varianti317 – 3171L → M in AH3. 1 Publication
VAR_026071
Natural varianti320 – 3201E → K in AH3; simple virilizing form; 4% activity. 1 Publication
VAR_065677
Natural varianti339 – 3391R → H in AH3; non-classic form; 50% activity. 1 Publication
VAR_001294
Natural varianti341 – 3411R → P in AH3; simple virilizing form. 3 Publications
VAR_018367
Natural varianti341 – 3411R → W in AH3; non-classic form; mild.
VAR_001295
Natural varianti354 – 3541R → C in AH3; salt wasting form. 1 Publication
VAR_026072
Natural varianti354 – 3541R → H in AH3; salt wasting form. 2 Publications
VAR_026073
Natural varianti356 – 3561R → P in AH3; salt wasting form; 0.15% activity. 1 Publication
VAR_001296
Natural varianti356 – 3561R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 Publications
VAR_001297
Natural varianti356 – 3561R → W in AH3; salt wasting form. 21 Publications
VAR_001298
Natural varianti362 – 3621A → V in AH3; no activity. 1 Publication
VAR_007924
Natural varianti363 – 3631L → W in AH3. 1 Publication
VAR_026074
Natural varianti365 – 3651H → Y in AH3. 1 Publication
VAR_026075
Natural varianti369 – 3691R → W in AH3. 1 Publication
VAR_065678
Natural varianti375 – 3751G → S in hyperandrogenism; due to 21-hydroxylase deficiency; almost completely abolished enzyme activity. 1 Publication
VAR_026076
Natural varianti380 – 3801E → D in AH3; salt wasting form. 1 Publication
VAR_001299
Natural varianti408 – 4081R → C in AH3; very low residual activity. 3 Publications
VAR_026077
Natural varianti424 – 4241G → S in AH3; very low activity. 4 Publications
VAR_026078
Natural varianti426 – 4261R → H in AH3; exhibit only low enzyme activity toward 17-hydroxyprogesterone. 2 Publications
VAR_026079
Natural varianti435 – 4351R → C in AH3. 1 Publication
VAR_026080
Natural varianti453 – 4531P → S in AH3; non-classic form; simple virilizing form when associated with L-62; 50% of activity; almost completely abolished enzyme activity when associated with S-375. 18 Publications
Corresponds to variant rs6445 [ dbSNP | Ensembl ].
VAR_001300
Natural varianti479 – 4791R → L in AH3. 1 Publication
VAR_026081
Natural varianti482 – 4821P → S in AH3; reduced enzyme activity to 70% of normal. 1 Publication
VAR_026082
Natural varianti483 – 4831R → P in AH3; moderate; 1-2% of activity. 7 Publications
VAR_001301
Natural varianti483 – 4831R → Q in AH3. 1 Publication
VAR_018368
Natural varianti483 – 4831R → W in AH3; salt wasting form. 1 Publication
VAR_026083
Natural varianti493 – 4931N → S in allele CYP21A2*6. 6 Publications
Corresponds to variant rs6473 [ dbSNP | Ensembl ].
VAR_001302

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei6 – 61L → LL in isoform 2. 1 PublicationVSP_046264
Alternative sequencei68 – 10235VVVLN…KLVSK → KLVSR in isoform 2. 1 PublicationVSP_046265Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M12792 Genomic DNA. Translation: AAB59440.1.
M13936 Genomic DNA. Translation: AAA59695.1.
M26856 Genomic DNA. Translation: AAA52064.1.
X58906 Genomic DNA. Translation: CAA41709.1.
GQ222286 Genomic DNA. Translation: ACT35412.1.
GQ222296 Genomic DNA. Translation: ACT35422.1.
GQ222301 Genomic DNA. Translation: ACT35427.1.
AK054616 mRNA. Translation: BAB70774.1.
AL645922 Genomic DNA. No translation available.
AL662828 Genomic DNA. No translation available.
AL662849 Genomic DNA. No translation available.
AL844853 Genomic DNA. No translation available.
AL929593 Genomic DNA. No translation available.
BX679671 Genomic DNA. Translation: CAM26070.1.
CR753845 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX03570.1.
CR936924 Genomic DNA. Translation: CAQ07659.1.
BC125182 mRNA. Translation: AAI25183.1.
K02771 Genomic DNA. Translation: AAA59706.1.
M19711 Genomic DNA. Translation: AAA83248.1.
M17252 mRNA. Translation: AAA59985.1.
CCDSiCCDS47406.1. [P08686-2]
PIRiA25446. O4HUC2.
RefSeqiNP_000491.4. NM_000500.7.
NP_001122062.3. NM_001128590.3.
UniGeneiHs.654479.

Genome annotation databases

EnsembliENST00000383321; ENSP00000372811; ENSG00000206338.
ENST00000434026; ENSP00000392321; ENSG00000232414.
ENST00000435122; ENSP00000415043; ENSG00000231852.
ENST00000436607; ENSP00000403721; ENSG00000235134. [P08686-1]
ENST00000448314; ENSP00000398594; ENSG00000198457. [P08686-1]
ENST00000452386; ENSP00000403230; ENSG00000233151.
GeneIDi1589.
KEGGihsa:1589.
UCSCiuc003nzf.2. human.
uc021zxa.1. human. [P08686-1]

Polymorphism databases

DMDMi117275.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Cytochrome P450 Allele Nomenclature Committee

CYP21A2 alleles

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M12792 Genomic DNA. Translation: AAB59440.1 .
M13936 Genomic DNA. Translation: AAA59695.1 .
M26856 Genomic DNA. Translation: AAA52064.1 .
X58906 Genomic DNA. Translation: CAA41709.1 .
GQ222286 Genomic DNA. Translation: ACT35412.1 .
GQ222296 Genomic DNA. Translation: ACT35422.1 .
GQ222301 Genomic DNA. Translation: ACT35427.1 .
AK054616 mRNA. Translation: BAB70774.1 .
AL645922 Genomic DNA. No translation available.
AL662828 Genomic DNA. No translation available.
AL662849 Genomic DNA. No translation available.
AL844853 Genomic DNA. No translation available.
AL929593 Genomic DNA. No translation available.
BX679671 Genomic DNA. Translation: CAM26070.1 .
CR753845 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX03570.1 .
CR936924 Genomic DNA. Translation: CAQ07659.1 .
BC125182 mRNA. Translation: AAI25183.1 .
K02771 Genomic DNA. Translation: AAA59706.1 .
M19711 Genomic DNA. Translation: AAA83248.1 .
M17252 mRNA. Translation: AAA59985.1 .
CCDSi CCDS47406.1. [P08686-2 ]
PIRi A25446. O4HUC2.
RefSeqi