HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)

2008-01-01  

Identity

HGNC
HSD3B2
LOCATION
1p12
LOCUSID
3284
ALIAS
HSD3B,HSDB,SDR11E2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3284
MIM: 613890
HGNC: 5218
Ensembl: ENSG00000203859

Variants:

dbSNP: 3284
ClinVar: 3284
TCGA: ENSG00000203859
COSMIC: HSD3B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203859ENST00000369416P26439
ENSG00000203859ENST00000369416A0A024R0F9
ENSG00000203859ENST00000433745Q5QP01
ENSG00000203859ENST00000543831P26439
ENSG00000203859ENST00000543831A0A024R0F9

Expression (GTEx)

0
500
1000
1500
2000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estroneKEGGhsa_M00110
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGhsa_M00107
C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estroneKEGGM00110
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGM00107
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Mineralocorticoid biosynthesisREACTOMER-HSA-193993
Androgen biosynthesisREACTOMER-HSA-193048
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
195059202009Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.40
152083012004The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
175076242007Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.37
168465352006Differential expression, function and response to inflammatory stimuli of 11beta-hydroxysteroid dehydrogenase type 1 in human fibroblasts: a mechanism for tissue-specific regulation of inflammation.33
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
242442762013Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.29
191582342009Role of angiotensin II-induced rapid response genes in the regulation of enzymes needed for aldosterone synthesis.26

Citation

Dessen P

HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49968/hsd3b2-(hydroxy-delta-5-steroid-dehydrogenase-3-beta-and-steroid-delta-isomerase-2)