HSD17B8 (hydroxysteroid 17-beta dehydrogenase 8)

2007-02-01  

Identity

HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
D6S2245E,FABG,FABGL,H2-KE6,HKE6,KE6,RING2,SDR30C1,dJ1033B10.9
FUSION GENES

Other Information

Locus ID:

NCBI: 7923
MIM: 601417
HGNC: 3554
Ensembl: ENSG00000204228

Variants:

dbSNP: 7923
ClinVar: 7923
TCGA: ENSG00000204228
COSMIC: HSD17B8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204228ENST00000374662Q92506
ENSG00000204228ENST00000374662A0A1U9X7U3

Expression (GTEx)

0
10
20
30
40
50
60

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
19571038200917beta-hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS.16
169309942006Expression of aromatase and 17beta-hydroxysteroid dehydrogenase types 1, 7 and 12 in breast cancer. An immunocytochemical study.11
202148022010Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
187944562008Induction of collagen by estradiol: difference between sun-protected and photodamaged human skin in vivo.8
188522152009Estradiol induces type 8 17beta-hydroxysteroid dehydrogenase expression: crosstalk between estrogen receptor alpha and C/EBPbeta.7
175834902007Transcriptional regulation of the human type 8 17beta-hydroxysteroid dehydrogenase gene by C/EBPbeta.4

Citation

Dessen P

HSD17B8 (hydroxysteroid 17-beta dehydrogenase 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45893/hsd17b8