HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3)

2013-11-01  

Identity

HGNC
LOCATION
9q22.32
LOCUSID
ALIAS
EDH17B3,SDR12C2
FUSION GENES

Other Information

Locus ID:

NCBI: 3293
MIM: 605573
HGNC: 5212
Ensembl: ENSG00000130948

Variants:

dbSNP: 3293
ClinVar: 3293
TCGA: ENSG00000130948
COSMIC: HSD17B3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130948ENST00000375262P37058
ENSG00000130948ENST00000375263P37058
ENSG00000130948ENST00000375263Q6FH62
ENSG00000130948ENST00000467499A0A3B3ITW2
ENSG00000130948ENST00000648146A0A0S2Z3U6
ENSG00000130948ENST00000648332A0A0S2Z406
ENSG00000130948ENST00000648799A0A3B3ITT4
ENSG00000130948ENST00000650005A0A0S2Z413
ENSG00000130948ENST00000650386A0A0S2Z3V7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876
Metabolism of steroid hormonesREACTOMER-HSA-196071
Androgen biosynthesisREACTOMER-HSA-193048

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
195059202009Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.40
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
206341972010Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.25
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
195743432009Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).18
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
174660112007Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.14
146348382003Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples.12

Citation

Dessen P

HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53741/hsd17b3