HSD17B2 (hydroxysteroid 17-beta dehydrogenase 2)

2003-11-01  

Identity

HGNC
LOCATION
16q23.3
LOCUSID
ALIAS
EDH17B2,HSD17,SDR9C2
FUSION GENES

Other Information

Locus ID:

NCBI: 3294
MIM: 109685
HGNC: 5211
Ensembl: ENSG00000086696

Variants:

dbSNP: 3294
ClinVar: 3294
TCGA: ENSG00000086696
COSMIC: HSD17B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086696ENST00000199936P37059
ENSG00000086696ENST00000563491H3BQY3
ENSG00000086696ENST00000566213H3BV42
ENSG00000086696ENST00000566838H3BRZ6
ENSG00000086696ENST00000568090H3BS44
ENSG00000086696ENST00000569351H3BNN1

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Estrogen biosynthesisREACTOMER-HSA-193144

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
151991132004Polymorphisms associated with circulating sex hormone levels in postmenopausal women.103
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
213651232011Steroidogenic enzymes and stem cell markers are upregulated during androgen deprivation in prostate cancer.38
175076242007Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.37
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
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25

Citation

Dessen P

HSD17B2 (hydroxysteroid 17-beta dehydrogenase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40868/hsd17b2