HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13)

2019-04-01  

Identity

HGNC
HSD17B13
LOCATION
4q22.1
LOCUSID
345275
ALIAS
HMFN0376,NIIL497,SCDR9,SDR16C3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 345275
MIM: 612127
HGNC: 18685
Ensembl: ENSG00000170509

Variants:

dbSNP: 345275
ClinVar: 345275
TCGA: ENSG00000170509
COSMIC: HSD17B13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170509ENST00000302219Q7Z5P4
ENSG00000170509ENST00000328546Q7Z5P4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923

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 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
173111132007Molecular cloning and expression analysis of a new gene for short-chain dehydrogenase/reductase 9.0
250284952014Comparative proteomic study reveals 17β-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease.0
295621632018A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.0
29748147201817-beta-hydroxysteroid dehydrogenase 13 inhibits the progression and recurrence of hepatocellular carcinoma.0
303231122019Splice variant rs72613567 prevents worst histologic outcomes in patients with nonalcoholic fatty liver disease.0
304039442018HCV-Associated Liver Fibrosis and HSD17B13.0
30415504201917-Beta Hydroxysteroid Dehydrogenase 13 Is a Hepatic Retinol Dehydrogenase Associated With Histological Features of Nonalcoholic Fatty Liver Disease.0
309086782019A 17-Beta-Hydroxysteroid Dehydrogenase 13 Variant Protects From Hepatocellular Carcinoma Development in Alcoholic Liver Disease.0

Citation

Dessen P

HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57803/hsd17b13