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P31213

- S5A2_HUMAN

UniProt

P31213 - S5A2_HUMAN

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Protein

3-oxo-5-alpha-steroid 4-dehydrogenase 2

Gene

SRD5A2

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

Functioni

Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.

Catalytic activityi

A 3-oxo-5-alpha-steroid + NADP+ = a 3-oxo-Delta(4)-steroid + NADPH.

pH dependencei

Optimally active at acidic pHs.

GO - Molecular functioni

  1. 3-oxo-5-alpha-steroid 4-dehydrogenase activity Source: InterPro
  2. cholestenone 5-alpha-reductase activity Source: UniProtKB-EC
  3. sterol 5-alpha reductase activity Source: UniProtKB

GO - Biological processi

  1. androgen biosynthetic process Source: Reactome
  2. androgen metabolic process Source: UniProtKB
  3. cell-cell signaling Source: UniProtKB
  4. cell differentiation Source: UniProtKB-KW
  5. male gonad development Source: UniProtKB
  6. small molecule metabolic process Source: Reactome
  7. steroid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Differentiation, Sexual differentiation

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS00619-MONOMER.
ReactomeiREACT_11059. Androgen biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
3-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC:1.3.1.22)
Alternative name(s):
5 alpha-SR2
SR type 2
Steroid 5-alpha-reductase 2
Short name:
S5AR 2
Type II 5-alpha reductase
Gene namesi
Name:SRD5A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:11285. SRD5A2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821HelicalSequence AnalysisAdd
BLAST
Transmembranei72 – 9221HelicalSequence AnalysisAdd
BLAST
Transmembranei146 – 16621HelicalSequence AnalysisAdd
BLAST
Transmembranei206 – 22621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]: A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551L → Q in PPSH. 1 Publication
VAR_013105
Natural varianti85 – 851G → D in PPSH. 1 Publication
VAR_013130
Natural varianti115 – 1151G → D in PPSH. 3 Publications
VAR_013106
Natural varianti123 – 1231G → R in PPSH. 1 Publication
VAR_025854
Natural varianti126 – 1261Q → R in PPSH. 1 Publication
VAR_025855
Natural varianti145 – 1451R → W in PPSH. 1 Publication
VAR_025851
Natural varianti157 – 1571Missing in PPSH. 1 Publication
VAR_013107
Natural varianti158 – 1581G → R in PPSH. 1 Publication
VAR_025856
Natural varianti181 – 1811P → L in PPSH. 1 Publication
VAR_025852
Natural varianti183 – 1831G → S in PPSH. 2 Publications
VAR_013108
Natural varianti196 – 1961G → S in PPSH. 3 Publications
VAR_013109
Natural varianti197 – 1971E → D in PPSH. 1 Publication
VAR_013110
Natural varianti200 – 2001E → K in PPSH. 1 Publication
VAR_013132
Natural varianti207 – 2071A → D in PPSH. 1 Publication
VAR_025857
Natural varianti212 – 2121P → R in PPSH. 2 Publications
VAR_013111
Natural varianti228 – 2281A → T in PPSH. 1 Publication
VAR_013112
Natural varianti231 – 2311H → R in PPSH. 1 Publication
VAR_013113
Natural varianti235 – 2351Y → F in PPSH. 1 Publication
VAR_025853
Natural varianti245 – 2451S → Y in PPSH. 1 Publication
VAR_013133
Natural varianti246 – 2461R → Q in PPSH. 2 Publications
Corresponds to variant rs9332967 [ dbSNP | Ensembl ].
VAR_013134
Natural varianti246 – 2461R → W in PPSH. 4 Publications
VAR_005609

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

MIMi264600. phenotype.
Orphaneti753. 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
1331. Familial prostate cancer.
PharmGKBiPA36113.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 2542543-oxo-5-alpha-steroid 4-dehydrogenase 2PRO_0000213676Add
BLAST

Proteomic databases

PaxDbiP31213.
PRIDEiP31213.

PTM databases

PhosphoSiteiP31213.

Expressioni

Tissue specificityi

Expressed in high levels in the prostate and many other androgen-sensitive tissues.

Gene expression databases

CleanExiHS_SRD5A2.
GenevestigatoriP31213.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000233139.

Structurei

3D structure databases

ProteinModelPortaliP31213.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the steroid 5-alpha reductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG282706.
GeneTreeiENSGT00510000046634.
HOVERGENiHBG003402.
InParanoidiP31213.
KOiK12344.
PhylomeDBiP31213.

Family and domain databases

InterProiIPR016636. 3-oxo-5-alpha-steroid_4-DH.
IPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view]
PfamiPF02544. Steroid_dh. 1 hit.
[Graphical view]
PIRSFiPIRSF015596. 5_alpha-SR2. 1 hit.
PROSITEiPS50244. S5A_REDUCTASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P31213-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MQVQCQQSPV LAGSATLVAL GALALYVAKP SGYGKHTESL KPAATRLPAR
60 70 80 90 100
AAWFLQELPS FAVPAGILAR QPLSLFGPPG TVLLGLFCVH YFHRTFVYSL
110 120 130 140 150
LNRGRPYPAI LILRGTAFCT GNGVLQGYYL IYCAEYPDGW YTDIRFSLGV
160 170 180 190 200
FLFILGMGIN IHSDYILRQL RKPGEISYRI PQGGLFTYVS GANFLGEIIE
210 220 230 240 250
WIGYALATWS LPALAFAFFS LCFLGLRAFH HHRFYLKMFE DYPKSRKALI

PFIF
Length:254
Mass (Da):28,393
Last modified:July 1, 1993 - v1
Checksum:iE65A19C8600DED05
GO

Polymorphismi

Individuals with Thr-49 have an increased risk of prostate cancer. The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491A → T.5 Publications
Corresponds to variant rs9282858 [ dbSNP | Ensembl ].
VAR_013104
Natural varianti55 – 551L → Q in PPSH. 1 Publication
VAR_013105
Natural varianti85 – 851G → D in PPSH. 1 Publication
VAR_013130
Natural varianti89 – 891V → L.7 Publications
Corresponds to variant rs523349 [ dbSNP | Ensembl ].
VAR_013131
Natural varianti113 – 1131L → V.1 Publication
Corresponds to variant rs28383048 [ dbSNP | Ensembl ].
VAR_022302
Natural varianti115 – 1151G → D in PPSH. 3 Publications
VAR_013106
Natural varianti123 – 1231G → R in PPSH. 1 Publication
VAR_025854
Natural varianti126 – 1261Q → R in PPSH. 1 Publication
VAR_025855
Natural varianti145 – 1451R → W in PPSH. 1 Publication
VAR_025851
Natural varianti157 – 1571Missing in PPSH. 1 Publication
VAR_013107
Natural varianti158 – 1581G → R in PPSH. 1 Publication
VAR_025856
Natural varianti181 – 1811P → L in PPSH. 1 Publication
VAR_025852
Natural varianti183 – 1831G → S in PPSH. 2 Publications
VAR_013108
Natural varianti196 – 1961G → S in PPSH. 3 Publications
VAR_013109
Natural varianti197 – 1971E → D in PPSH. 1 Publication
VAR_013110
Natural varianti200 – 2001E → K in PPSH. 1 Publication
VAR_013132
Natural varianti203 – 2031G → S.
Corresponds to variant rs9332961 [ dbSNP | Ensembl ].
VAR_059791
Natural varianti207 – 2071A → D in PPSH. 1 Publication
VAR_025857
Natural varianti212 – 2121P → R in PPSH. 2 Publications
VAR_013111
Natural varianti224 – 2241L → H.
Corresponds to variant rs9332963 [ dbSNP | Ensembl ].
VAR_059792
Natural varianti224 – 2241L → M.
Corresponds to variant rs9332963 [ dbSNP | Ensembl ].
VAR_037585
Natural varianti227 – 2271R → Q in micropenis. 1 Publication
Corresponds to variant rs9332964 [ dbSNP | Ensembl ].
VAR_037586
Natural varianti228 – 2281A → T in PPSH. 1 Publication
VAR_013112
Natural varianti231 – 2311H → R in PPSH. 1 Publication
VAR_013113
Natural varianti235 – 2351Y → F in PPSH. 1 Publication
VAR_025853
Natural varianti245 – 2451S → Y in PPSH. 1 Publication
VAR_013133
Natural varianti246 – 2461R → Q in PPSH. 2 Publications
Corresponds to variant rs9332967 [ dbSNP | Ensembl ].
VAR_013134
Natural varianti246 – 2461R → W in PPSH. 4 Publications
VAR_005609

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74047 mRNA. Translation: AAA60586.1.
AB047857 Genomic DNA. Translation: BAB40419.1.
EF560740 mRNA. Translation: ABQ59050.1.
AY884245 Genomic DNA. Translation: AAW56942.1.
AK316597 mRNA. Translation: BAG38184.1.
CH471053 Genomic DNA. Translation: EAX00478.1.
BC112252 mRNA. Translation: AAI12253.1.
BC113641 mRNA. Translation: AAI13642.1.
L03843 Genomic DNA. No translation available.
CCDSiCCDS74503.1.
PIRiA49169.
RefSeqiNP_000339.2. NM_000348.3.
UniGeneiHs.458345.

Genome annotation databases

EnsembliENST00000622030; ENSP00000477587; ENSG00000277893.
GeneIDi6716.
KEGGihsa:6716.
UCSCiuc002rnw.1. human.

Polymorphism databases

DMDMi401056.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

5-alpha reductase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74047 mRNA. Translation: AAA60586.1 .
AB047857 Genomic DNA. Translation: BAB40419.1 .
EF560740 mRNA. Translation: ABQ59050.1 .
AY884245 Genomic DNA. Translation: AAW56942.1 .
AK316597 mRNA. Translation: BAG38184.1 .
CH471053 Genomic DNA. Translation: EAX00478.1 .
BC112252 mRNA. Translation: AAI12253.1 .
BC113641 mRNA. Translation: AAI13642.1 .
L03843 Genomic DNA. No translation available.
CCDSi CCDS74503.1.
PIRi A49169.
RefSeqi NP_000339.2. NM_000348.3.
UniGenei Hs.458345.

3D structure databases

ProteinModelPortali P31213.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000233139.

Chemistry

BindingDBi P31213.
ChEMBLi CHEMBL1856.
DrugBanki DB00548. Azelaic Acid.
DB01126. Dutasteride.
DB01216. Finasteride.
DB00421. Spironolactone.
GuidetoPHARMACOLOGYi 2633.

PTM databases

PhosphoSitei P31213.

Polymorphism databases

DMDMi 401056.

Proteomic databases

PaxDbi P31213.
PRIDEi P31213.

Protocols and materials databases

DNASUi 6716.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000622030 ; ENSP00000477587 ; ENSG00000277893 .
GeneIDi 6716.
KEGGi hsa:6716.
UCSCi uc002rnw.1. human.

Organism-specific databases

CTDi 6716.
GeneCardsi GC02M031661.
H-InvDB HIX0030017.
HGNCi HGNC:11285. SRD5A2.
MIMi 264600. phenotype.
607306. gene.
neXtProti NX_P31213.
Orphaneti 753. 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
1331. Familial prostate cancer.
PharmGKBi PA36113.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG282706.
GeneTreei ENSGT00510000046634.
HOVERGENi HBG003402.
InParanoidi P31213.
KOi K12344.
PhylomeDBi P31213.

Enzyme and pathway databases

BioCyci MetaCyc:HS00619-MONOMER.
Reactomei REACT_11059. Androgen biosynthesis.

Miscellaneous databases

ChiTaRSi SRD5A2. human.
GeneWikii SRD5A2.
GenomeRNAii 6716.
NextBioi 26196.
PROi P31213.
SOURCEi Search...

Gene expression databases

CleanExi HS_SRD5A2.
Genevestigatori P31213.

Family and domain databases

InterProi IPR016636. 3-oxo-5-alpha-steroid_4-DH.
IPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view ]
Pfami PF02544. Steroid_dh. 1 hit.
[Graphical view ]
PIRSFi PIRSF015596. 5_alpha-SR2. 1 hit.
PROSITEi PS50244. S5A_REDUCTASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism."
    Andersson S., Berman D.M., Jenkins E.P., Russell D.W.
    Nature 354:159-161(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Schupp I.
    Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-89.
    Tissue: Liver tumor.
  4. NIEHS SNPs program
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-49; LEU-89 AND VAL-113.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-89.
  8. "Transcription of type II 5 alpha-reductase is up-regulated by SRY in human dermal papilla cells."
    Nakanishi J., Hibino T.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-67.
    Tissue: Placenta.
  9. Cited for: VARIANT PPSH TRP-246.
  10. "A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency."
    Boudon C., Lobaccaro J.-M., Lumbroso S., Ogur G., Ocal G., Belon C., Sultan C.
    Clin. Endocrinol. (Oxf.) 43:183-188(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH MET-157 DEL.
  11. Cited for: VARIANTS PPSH ASP-115; SER-183 AND TRP-246.
  12. "Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency."
    Hochberg Z., Chayen R., Reiss N., Falik Z., Makler A., Munichor M., Farkas A., Goldfarb H., Ohana N., Hiort O.
    J. Clin. Endocrinol. Metab. 81:2821-2827(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH GLN-55.
  13. "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)."
    Anwar R., Gilbey S.G., New J.P., Markham A.F.
    Mol. Pathol. 50:51-52(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH LYS-200.
  14. "Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations."
    Nordenskjold A., Magnus O., Aagenaes O., Knudtzon J.
    Am. J. Med. Genet. 80:269-272(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH THR-228.
  15. "Molecular characterization of 5-alpha-reductase type 2 deficiency and fertility in a Swedish family."
    Nordenskjold A., Ivarsson S.-A.
    J. Clin. Endocrinol. Metab. 83:3236-3238(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH SER-196 AND ARG-231.
  16. "Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA."
    Makridakis N.M., Ross R.K., Pike M.C., Crocitto L.E., Kolonel L.N., Pearce C.L., Henderson B.E., Reichardt J.K.V.
    Lancet 354:975-978(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-49.
  17. "Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency."
    Vilchis F., Mendez J.P., Canto P., Lieberman E., Chavez B.
    Clin. Endocrinol. (Oxf.) 52:383-387(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-85; ASP-115; ARG-212; TYR-245 AND GLN-246.
  18. "Uniparental disomy in steroid 5-alpha-reductase 2 deficiency."
    Chavez B., Valdez E., Vilchis F.
    J. Clin. Endocrinol. Metab. 85:3147-3150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-197 AND ARG-212.
  19. "Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study."
    Pearce C.L., Makridakis N.M., Ross R.K., Pike M.C., Kolonel L.N., Henderson B.E., Reichardt J.K.V.
    Cancer Epidemiol. Biomarkers Prev. 11:417-418(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-89.
  20. "Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients."
    Sasaki G., Ogata T., Ishii T., Kosaki K., Sato S., Homma K., Takahashi T., Hasegawa T., Matsuo N.
    J. Clin. Endocrinol. Metab. 88:3431-3436(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MICROPENIS GLN-227, VARIANT LEU-89.
  21. "Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2."
    Loukola A., Chadha M., Penn S.G., Rank D., Conti D.V., Thompson D., Cicek M., Love B., Bivolarevic V., Yang Q., Jiang Y., Hanzel D.K., Dains K., Paris P.L., Casey G., Witte J.S.
    Eur. J. Hum. Genet. 12:321-332(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-49, LACK OF ASSOCIATION WITH PROSTATE CANCER.
  22. "Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene."
    Fernandez-Cancio M., Rodo J., Andaluz P., Martinez de Osaba M.J., Rodriguez-Hierro F., Esteban C., Carrascosa A., Audi L.
    Horm. Res. 62:259-264(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-115 AND TRP-246.
  23. "SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects."
    Nicoletti A., Baldazzi L., Balsamo A., Barp L., Pirazzoli P., Gennari M., Radetti G., Cacciari E., Cicognani A.
    Clin. Endocrinol. (Oxf.) 63:375-380(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH TRP-145; LEU-181; SER-196; PHE-235 AND GLN-246, VARIANTS THR-49 AND LEU-89.
  24. "New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2."
    Hackel C., Oliveira L.E., Ferraz L.F., Tonini M.M., Silva D.N., Toralles M.B., Stuchi-Perez E.G., Guerra-Junior G.
    J. Mol. Med. 83:569-576(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ARG-126; ARG-158; SER-183; SER-196; ASP-207 AND TRP-246, VARIANTS THR-49 AND LEU-89.
  25. "A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family."
    Bahceci M., Ersay A.R., Tuzcu A., Hiort O., Richter-Unruh A., Gokalp D.
    Urology 66:407-410(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH ARG-123.

Entry informationi

Entry nameiS5A2_HUMAN
AccessioniPrimary (citable) accession number: P31213
Secondary accession number(s): B2RE87, Q2M1R4, Q9BYE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 29, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3