HSD3B2

GENERAL INFORMATION

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Gene name

HSD3B2

Gene description

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Protein class

Disease related genes
Enzymes
FDA approved drug targets
Mitochondrial proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (adrenal gland)
GTEx:Tissue enriched (adrenal gland)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in adrenal gland.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Supportive based on 3 antibodies.
HPA043261 , HPA043264 , HPA044028
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (adrenal gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (adrenal gland)

Organ

Expression



GENE INFORMATION

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Gene name

HSD3B2 (HGNC Symbol)

Synonyms

SDR11E2

Description

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

p12

Chromosome location (bp)

119414931 - 119423035

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000203859 (version 78.38)

Entrez gene

3284

UniProt

P26439 (UniProt - Evidence at protein level)

neXtProt

NX_P26439

Antibodypedia

HSD3B2 antibodies


PROTEIN BROWSER

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ENST00000369416
 
ENST00000433745
 
ENST00000543831
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HSD3B2-001 ENSP00000358424
ENST00000369416
P26439
Show all »
Show » Show » 372 42.1 No 1
HSD3B2-002 ENSP00000388292
ENST00000433745
Q5QP01
Show all »
Show » Show » 195 21.7 No 0
HSD3B2-201 ENSP00000445122
ENST00000543831
P26439
Show all »
Show » Show » 372 42.1 No 1