HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12)

2009-04-01  

Identity

HGNC
HSD17B12
LOCATION
11p11.2
LOCUSID
51144
ALIAS
KAR,SDR12C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51144
MIM: 609574
HGNC: 18646
Ensembl: ENSG00000149084

Variants:

dbSNP: 51144
ClinVar: 51144
TCGA: ENSG00000149084
COSMIC: HSD17B12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149084ENST00000278353Q53GQ0
ENSG00000149084ENST00000395700Q53GQ0
ENSG00000149084ENST00000527433A0A1B0GW27
ENSG00000149084ENST00000531185E9PI21
ENSG00000149084ENST00000636007A0A1B0GW85
ENSG00000149084ENST00000636722A0A1B0GU83
ENSG00000149084ENST00000637401A0A1B0GV93
ENSG00000149084ENST00000638034A0A1B0GVY6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Fatty acid elongationKEGGko00062
Steroid hormone biosynthesisKEGGko00140
Biosynthesis of unsaturated fatty acidsKEGGko01040
Fatty acid elongationKEGGhsa00062
Steroid hormone biosynthesisKEGGhsa00140
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
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
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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
161661962006Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women.22
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
240585062013Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.11
19190350200917Beta-hydroxysteroid dehydrogenase type 12 in human breast carcinoma: a prognostic factor via potential regulation of fatty acid synthesis.9
166215232006Systemic distribution and tissue localizations of human 17beta-hydroxysteroid dehydrogenase type 12.7
194294422009Differential estrogenic 17beta-hydroxysteroid dehydrogenase activity and type 12 17beta-hydroxysteroid dehydrogenase expression levels in preadipocytes and differentiated adipocytes.7
214095962011Identification of Hydroxysteroid (17β) dehydrogenase type 12 (HSD17B12) as a CD8+ T-cell-defined human tumor antigen of human carcinomas.7
22903146201217β Hydroxysteroid dehydrogenase type 12 (HSD17B12) is a marker of poor prognosis in ovarian carcinoma.6
195338432009Transcriptional regulation of 17beta-hydroxysteroid dehydrogenase type 12 by SREBP-1.4
293244482018The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.3

Citation

Dessen P

HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/50841/hsd17b12