UniProtKB - P26439 (3BHS2_HUMAN)
Protein
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Gene
HSD3B2
Organism
Homo sapiens (Human)
Status
Functioni
3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta5-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.1 Publication
Catalytic activityi
- EC:1.1.1.1451 Publication
- EC:5.3.3.11 Publication
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- EC:1.1.1.1451 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Kineticsi
- KM=1.84 µM for pregnenolone1 Publication
- Vmax=0.16 pmol/min/mg enzyme toward pregnenolone1 Publication
: steroid biosynthesis Pathwayi
This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway steroid biosynthesis and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 154 | Proton acceptorBy similarity | 1 | |
Binding sitei | 158 | NADBy similarity | 1 |
GO - Molecular functioni
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
- cholesterol dehydrogenase activity Source: UniProtKB-EC
- oxidoreductase activity Source: GO_Central
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Source: GO_Central
- steroid delta-isomerase activity Source: UniProtKB
GO - Biological processi
- androgen biosynthetic process Source: UniProtKB
- C21-steroid hormone metabolic process Source: GO_Central
- glucocorticoid biosynthetic process Source: Reactome
- hippocampus development Source: GO_Central
- mineralocorticoid biosynthetic process Source: Reactome
- response to corticosterone Source: GO_Central
- steroid biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Isomerase, Multifunctional enzyme, Oxidoreductase |
Biological process | Steroidogenesis |
Ligand | NAD |
Enzyme and pathway databases
BioCyci | MetaCyc:HS10943-MONOMER |
BRENDAi | 1.1.1.145, 2681 5.3.3.1, 2681 |
PathwayCommonsi | P26439 |
Reactomei | R-HSA-193048, Androgen biosynthesis R-HSA-193993, Mineralocorticoid biosynthesis R-HSA-194002, Glucocorticoid biosynthesis |
SIGNORi | P26439 |
UniPathwayi | UPA00062 |
Chemistry databases
SwissLipidsi | SLP:000001296 |
Names & Taxonomyi
Protein namesi | Recommended name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2CuratedAlternative name(s): 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II Short name: 3-beta-HSD II 3-beta-HSD adrenal and gonadal type Including the following 2 domains: |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:5218, HSD3B2 |
MIMi | 613890, gene |
neXtProti | NX_P26439 |
VEuPathDBi | HostDB:ENSG00000203859.9 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein Sequence analysis
Mitochondrion
- Mitochondrion membrane ; Single-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: Reactome
- smooth endoplasmic reticulum membrane Source: UniProtKB
Extracellular region or secreted
- intercellular bridge Source: HPA
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrial intermembrane space Source: UniProtKB
- mitochondrial membrane Source: UniProtKB
Nucleus
- nucleolus Source: HPA
Other locations
- cytoplasm Source: GO_Central
- integral component of membrane Source: UniProtKB
- intracellular membrane-bounded organelle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 287 – 307 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Adrenal hyperplasia 2 (AH2)18 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010517 | 10 | A → E in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28934880EnsemblClinVar. | 1 | |
Natural variantiVAR_010518 | 10 | A → V in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs28934880EnsemblClinVar. | 1 | |
Natural variantiVAR_010519 | 15 | G → D in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_070028 | 82 | A → P in AH2. 1 Publication | 1 | |
Natural variantiVAR_010520 | 82 | A → T in AH2. 2 PublicationsCorresponds to variant dbSNP:rs757033996Ensembl. | 1 | |
Natural variantiVAR_010521 | 100 | N → S in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs1388517943Ensembl. | 1 | |
Natural variantiVAR_010522 | 108 | L → W in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_010523 | 129 | G → R in AH2; nonsalt-wasting form. 3 PublicationsCorresponds to variant dbSNP:rs587628683Ensembl. | 1 | |
Natural variantiVAR_000006 | 142 | E → K in AH2; activity abolished. 3 PublicationsCorresponds to variant dbSNP:rs80358219EnsemblClinVar. | 1 | |
Natural variantiVAR_010524 | 155 | P → L in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs779418168Ensembl. | 1 | |
Natural variantiVAR_010525 | 167 | A → V in AH2; late onset; almost normal activity. 1 PublicationCorresponds to variant dbSNP:rs35486059EnsemblClinVar. | 1 | |
Natural variantiVAR_010526 | 173 | L → R in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs762479018Ensembl. | 1 | |
Natural variantiVAR_010527 | 186 | P → L in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_000007 | 205 | L → P in AH2. 2 Publications | 1 | |
Natural variantiVAR_010528 | 213 | S → G in AH2; late onset; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759422374Ensembl. | 1 | |
Natural variantiVAR_010529 | 216 | K → E in AH2; late onset; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_010530 | 222 | P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication | 1 | |
Natural variantiVAR_010531 | 222 | P → Q in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs765547422Ensembl. | 1 | |
Natural variantiVAR_015411 | 222 | P → T in AH2. 1 PublicationCorresponds to variant dbSNP:rs80358220EnsemblClinVar. | 1 | |
Natural variantiVAR_010532 | 231 – 238 | Missing in AH2; activity abolished. | 8 | |
Natural variantiVAR_010533 | 236 | L → S in AH2; mild; 100% of activity. 2 PublicationsCorresponds to variant dbSNP:rs35887327EnsemblClinVar. | 1 | |
Natural variantiVAR_000008 | 245 | A → P in AH2; loss of 88% of activity. 2 Publications | 1 | |
Natural variantiVAR_083841 | 250 | G → V in AH2; nonsalt-wasting form; loss of 75% of enzymatic activity for the conversion of pregnenolone to progesterone and dehydroepiandrosterone to androstenedione; no effect on endoplasmic reticulum location. 1 Publication | 1 | |
Natural variantiVAR_000009 | 253 | Y → N in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1399005702Ensembl. | 1 | |
Natural variantiVAR_000010 | 254 | Y → D in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1411029929Ensembl. | 1 | |
Natural variantiVAR_010534 | 259 | T → M in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs80358221EnsemblClinVar. | 1 | |
Natural variantiVAR_000011 | 259 | T → R in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_010535 | 294 | G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication | 1 | |
Natural variantiVAR_065665 | 341 | P → L in AH2; strongly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121964897EnsemblClinVar. | 1 |
Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.1 Publication
Keywords - Diseasei
Congenital adrenal hyperplasia, Disease variantOrganism-specific databases
DisGeNETi | 3284 |
MalaCardsi | HSD3B2 |
MIMi | 201810, phenotype |
OpenTargetsi | ENSG00000203859 |
Orphaneti | 90791, Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
PharmGKBi | PA29487 |
Miscellaneous databases
Pharosi | P26439, Tclin |
Chemistry databases
ChEMBLi | CHEMBL3670 |
DrugBanki | DB01285, Corticotropin DB00603, Medroxyprogesterone acetate DB00157, NADH DB00717, Norethisterone DB09070, Tibolone DB01108, Trilostane |
DrugCentrali | P26439 |
Genetic variation databases
BioMutai | HSD3B2 |
DMDMi | 112770 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087775 | 1 – 372 | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2Add BLAST | 372 |
Proteomic databases
MassIVEi | P26439 |
PaxDbi | P26439 |
PeptideAtlasi | P26439 |
PRIDEi | P26439 |
ProteomicsDBi | 54346 [P26439-1] 54347 [P26439-2] |
PTM databases
iPTMneti | P26439 |
PhosphoSitePlusi | P26439 |
Expressioni
Tissue specificityi
Expressed in adrenal gland, testis and ovary.
Gene expression databases
Bgeei | ENSG00000203859, Expressed in left adrenal gland and 110 other tissues |
ExpressionAtlasi | P26439, baseline and differential |
Genevisiblei | P26439, HS |
Organism-specific databases
HPAi | ENSG00000203859, Tissue enriched (adrenal) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 109517, 22 interactors |
CORUMi | P26439 |
IntActi | P26439, 20 interactors |
STRINGi | 9606.ENSP00000445122 |
Chemistry databases
BindingDBi | P26439 |
Miscellaneous databases
RNActi | P26439, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the 3-beta-HSD family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1430, Eukaryota |
GeneTreei | ENSGT00940000161374 |
HOGENOMi | CLU_007383_6_3_1 |
OMAi | CRFLLGH |
PhylomeDBi | P26439 |
TreeFami | TF343138 |
Family and domain databases
InterProi | View protein in InterPro IPR002225, 3Beta_OHSteriod_DH/Estase IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF01073, 3Beta_HSD, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P26439-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGWSCLVTGA GGLLGQRIVR LLVEEKELKE IRALDKAFRP ELREEFSKLQ
60 70 80 90 100
NRTKLTVLEG DILDEPFLKR ACQDVSVVIH TACIIDVFGV THRESIMNVN
110 120 130 140 150
VKGTQLLLEA CVQASVPVFI YTSSIEVAGP NSYKEIIQNG HEEEPLENTW
160 170 180 190 200
PTPYPYSKKL AEKAVLAANG WNLKNGDTLY TCALRPTYIY GEGGPFLSAS
210 220 230 240 250
INEALNNNGI LSSVGKFSTV NPVYVGNVAW AHILALRALR DPKKAPSVRG
260 270 280 290 300
QFYYISDDTP HQSYDNLNYI LSKEFGLRLD SRWSLPLTLM YWIGFLLEVV
310 320 330 340 350
SFLLSPIYSY QPPFNRHTVT LSNSVFTFSY KKAQRDLAYK PLYSWEEAKQ
360 370
KTVEWVGSLV DRHKETLKSK TQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ5QP01 | Q5QP01_HUMAN | 3 beta-hydroxysteroid dehydrogenase... | HSD3B2 | 195 | Annotation score: |
Sequence cautioni
The sequence AAC60600 differs from that shown. Reason: Frameshift. The frameshift is caused by a single nucleotide insertion which is found in AH2.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 52 – 53 | RT → KI in AAD14329 (PubMed:7588414).Curated | 2 | |
Sequence conflicti | 92 – 94 | HRE → RRQ in AAD14329 (PubMed:7588414).Curated | 3 | |
Sequence conflicti | 232 | H → L in BAD96717 (Ref. 4) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010517 | 10 | A → E in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28934880EnsemblClinVar. | 1 | |
Natural variantiVAR_010518 | 10 | A → V in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs28934880EnsemblClinVar. | 1 | |
Natural variantiVAR_010519 | 15 | G → D in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_048099 | 74 | D → N. Corresponds to variant dbSNP:rs4986954EnsemblClinVar. | 1 | |
Natural variantiVAR_070028 | 82 | A → P in AH2. 1 Publication | 1 | |
Natural variantiVAR_010520 | 82 | A → T in AH2. 2 PublicationsCorresponds to variant dbSNP:rs757033996Ensembl. | 1 | |
Natural variantiVAR_014818 | 94 | E → Q1 PublicationCorresponds to variant dbSNP:rs6211Ensembl. | 1 | |
Natural variantiVAR_010521 | 100 | N → S in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs1388517943Ensembl. | 1 | |
Natural variantiVAR_010522 | 108 | L → W in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_010523 | 129 | G → R in AH2; nonsalt-wasting form. 3 PublicationsCorresponds to variant dbSNP:rs587628683Ensembl. | 1 | |
Natural variantiVAR_000006 | 142 | E → K in AH2; activity abolished. 3 PublicationsCorresponds to variant dbSNP:rs80358219EnsemblClinVar. | 1 | |
Natural variantiVAR_010524 | 155 | P → L in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs779418168Ensembl. | 1 | |
Natural variantiVAR_010525 | 167 | A → V in AH2; late onset; almost normal activity. 1 PublicationCorresponds to variant dbSNP:rs35486059EnsemblClinVar. | 1 | |
Natural variantiVAR_010526 | 173 | L → R in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs762479018Ensembl. | 1 | |
Natural variantiVAR_010527 | 186 | P → L in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_000007 | 205 | L → P in AH2. 2 Publications | 1 | |
Natural variantiVAR_010528 | 213 | S → G in AH2; late onset; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759422374Ensembl. | 1 | |
Natural variantiVAR_010529 | 216 | K → E in AH2; late onset; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_010530 | 222 | P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication | 1 | |
Natural variantiVAR_010531 | 222 | P → Q in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs765547422Ensembl. | 1 | |
Natural variantiVAR_015411 | 222 | P → T in AH2. 1 PublicationCorresponds to variant dbSNP:rs80358220EnsemblClinVar. | 1 | |
Natural variantiVAR_010532 | 231 – 238 | Missing in AH2; activity abolished. | 8 | |
Natural variantiVAR_010533 | 236 | L → S in AH2; mild; 100% of activity. 2 PublicationsCorresponds to variant dbSNP:rs35887327EnsemblClinVar. | 1 | |
Natural variantiVAR_000008 | 245 | A → P in AH2; loss of 88% of activity. 2 Publications | 1 | |
Natural variantiVAR_083841 | 250 | G → V in AH2; nonsalt-wasting form; loss of 75% of enzymatic activity for the conversion of pregnenolone to progesterone and dehydroepiandrosterone to androstenedione; no effect on endoplasmic reticulum location. 1 Publication | 1 | |
Natural variantiVAR_000009 | 253 | Y → N in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1399005702Ensembl. | 1 | |
Natural variantiVAR_000010 | 254 | Y → D in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1411029929Ensembl. | 1 | |
Natural variantiVAR_010534 | 259 | T → M in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs80358221EnsemblClinVar. | 1 | |
Natural variantiVAR_000011 | 259 | T → R in AH2; activity abolished. 2 Publications | 1 | |
Natural variantiVAR_010535 | 294 | G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication | 1 | |
Natural variantiVAR_065665 | 341 | P → L in AH2; strongly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121964897EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037399 | 103 – 222 | GTQLL…STVNP → ELQNKIKLTVLEGDILDEPF LKRACQDVSVVIHTACIIDV FGVTHRQSIMNVNVKGRVAW GGDKARWGNEDQKEGQEGKR SLSIEHLLCSGPSDFADHYQ LGELKAAIFSFIDEKTRTEQ in isoform 2. 1 PublicationAdd BLAST | 120 | |
Alternative sequenceiVSP_037400 | 223 – 372 | Missing in isoform 2. 1 PublicationAdd BLAST | 150 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M77144 Genomic DNA Translation: AAA36014.1 M67466 mRNA Translation: AAA36016.1 CR627415 mRNA Translation: CAH10504.1 AK222997 mRNA Translation: BAD96717.1 AL359553 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56700.1 BC038419 mRNA Translation: AAH38419.1 BC131488 mRNA Translation: AAI31489.1 S80140 Genomic DNA Translation: AAD14329.1 S60309 Genomic DNA Translation: AAC60599.1 S60310 Genomic DNA Translation: AAC60600.1 Frameshift. |
CCDSi | CCDS902.1 [P26439-1] |
PIRi | A39488, DEHUH2 |
RefSeqi | NP_000189.1, NM_000198.3 [P26439-1] NP_001159592.1, NM_001166120.1 [P26439-1] |
Genome annotation databases
Ensembli | ENST00000369416; ENSP00000358424; ENSG00000203859 [P26439-1] ENST00000543831; ENSP00000445122; ENSG00000203859 [P26439-1] |
GeneIDi | 3284 |
KEGGi | hsa:3284 |
UCSCi | uc001eht.4, human [P26439-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M77144 Genomic DNA Translation: AAA36014.1 M67466 mRNA Translation: AAA36016.1 CR627415 mRNA Translation: CAH10504.1 AK222997 mRNA Translation: BAD96717.1 AL359553 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56700.1 BC038419 mRNA Translation: AAH38419.1 BC131488 mRNA Translation: AAI31489.1 S80140 Genomic DNA Translation: AAD14329.1 S60309 Genomic DNA Translation: AAC60599.1 S60310 Genomic DNA Translation: AAC60600.1 Frameshift. |
CCDSi | CCDS902.1 [P26439-1] |
PIRi | A39488, DEHUH2 |
RefSeqi | NP_000189.1, NM_000198.3 [P26439-1] NP_001159592.1, NM_001166120.1 [P26439-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 109517, 22 interactors |
CORUMi | P26439 |
IntActi | P26439, 20 interactors |
STRINGi | 9606.ENSP00000445122 |
Chemistry databases
BindingDBi | P26439 |
ChEMBLi | CHEMBL3670 |
DrugBanki | DB01285, Corticotropin DB00603, Medroxyprogesterone acetate DB00157, NADH DB00717, Norethisterone DB09070, Tibolone DB01108, Trilostane |
DrugCentrali | P26439 |
SwissLipidsi | SLP:000001296 |
PTM databases
iPTMneti | P26439 |
PhosphoSitePlusi | P26439 |
Genetic variation databases
BioMutai | HSD3B2 |
DMDMi | 112770 |
Proteomic databases
MassIVEi | P26439 |
PaxDbi | P26439 |
PeptideAtlasi | P26439 |
PRIDEi | P26439 |
ProteomicsDBi | 54346 [P26439-1] 54347 [P26439-2] |
Protocols and materials databases
Antibodypediai | 33908, 169 antibodies |
DNASUi | 3284 |
Genome annotation databases
Ensembli | ENST00000369416; ENSP00000358424; ENSG00000203859 [P26439-1] ENST00000543831; ENSP00000445122; ENSG00000203859 [P26439-1] |
GeneIDi | 3284 |
KEGGi | hsa:3284 |
UCSCi | uc001eht.4, human [P26439-1] |
Organism-specific databases
CTDi | 3284 |
DisGeNETi | 3284 |
GeneCardsi | HSD3B2 |
HGNCi | HGNC:5218, HSD3B2 |
HPAi | ENSG00000203859, Tissue enriched (adrenal) |
MalaCardsi | HSD3B2 |
MIMi | 201810, phenotype 613890, gene |
neXtProti | NX_P26439 |
OpenTargetsi | ENSG00000203859 |
Orphaneti | 90791, Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
PharmGKBi | PA29487 |
VEuPathDBi | HostDB:ENSG00000203859.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1430, Eukaryota |
GeneTreei | ENSGT00940000161374 |
HOGENOMi | CLU_007383_6_3_1 |
OMAi | CRFLLGH |
PhylomeDBi | P26439 |
TreeFami | TF343138 |
Enzyme and pathway databases
UniPathwayi | UPA00062 |
BioCyci | MetaCyc:HS10943-MONOMER |
BRENDAi | 1.1.1.145, 2681 5.3.3.1, 2681 |
PathwayCommonsi | P26439 |
Reactomei | R-HSA-193048, Androgen biosynthesis R-HSA-193993, Mineralocorticoid biosynthesis R-HSA-194002, Glucocorticoid biosynthesis |
SIGNORi | P26439 |
Miscellaneous databases
BioGRID-ORCSi | 3284, 2 hits in 852 CRISPR screens |
ChiTaRSi | HSD3B2, human |
GeneWikii | HSD3B2 |
GenomeRNAii | 3284 |
Pharosi | P26439, Tclin |
PROi | PR:P26439 |
RNActi | P26439, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000203859, Expressed in left adrenal gland and 110 other tissues |
ExpressionAtlasi | P26439, baseline and differential |
Genevisiblei | P26439, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002225, 3Beta_OHSteriod_DH/Estase IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF01073, 3Beta_HSD, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | 3BHS2_HUMAN | |
Accessioni | P26439Primary (citable) accession number: P26439 Secondary accession number(s): A2RRA5 Q9UD08 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1992 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 211 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families