HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6)

2014-08-01  

Identity

HGNC
HSD17B6
LOCATION
12q13.3
LOCUSID
8630
ALIAS
HSE,RODH,SDR9C6

Other Information

Locus ID:

NCBI: 8630
MIM: 606623
HGNC: 23316
Ensembl: ENSG00000025423

Variants:

dbSNP: 8630
ClinVar: 8630
TCGA: ENSG00000025423
COSMIC: HSD17B6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000025423ENST00000322165O14756
ENSG00000025423ENST00000322165A0A024RB43
ENSG00000025423ENST00000554150O14756
ENSG00000025423ENST00000554150A0A024RB43
ENSG00000025423ENST00000554155G3V3Y9
ENSG00000025423ENST00000554643O14756
ENSG00000025423ENST00000554643A0A024RB43
ENSG00000025423ENST00000555159O14756
ENSG00000025423ENST00000555159A0A024RB43
ENSG00000025423ENST00000555805O14756
ENSG00000025423ENST00000555805A0A024RB43
ENSG00000025423ENST00000556650G3V508

Expression (GTEx)

0
50
100
150
200
250
300
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
Retinol metabolismKEGGko00830
Steroid hormone biosynthesisKEGGhsa00140
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
242442762013Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.29
221141942011Estrogen receptor β and 17β-hydroxysteroid dehydrogenase type 6, a growth regulatory pathway that is lost in prostate cancer.28
198379282009Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene.12
198379282009Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene.12
172898492007Role of microsomal retinol/sterol dehydrogenase-like short-chain dehydrogenases/reductases in the oxidation and epimerization of 3alpha-hydroxysteroids in human tissues.9
170701952006Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.8
170701952006Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.8
254222942015Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population.7
210392822010Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.3

Citation

Dessen P

HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54826/hsd17b6