HSD17B7 (hydroxysteroid 17-beta dehydrogenase 7)

2003-06-01  

Identity

HGNC
HSD17B7
LOCATION
1q23.3
LOCUSID
51478
ALIAS
PRAP,SDR37C1

Other Information

Locus ID:

NCBI: 51478
MIM: 606756
HGNC: 5215
Ensembl: ENSG00000132196

Variants:

dbSNP: 51478
ClinVar: 51478
TCGA: ENSG00000132196
COSMIC: HSD17B7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132196ENST00000254521P56937
ENSG00000132196ENST00000254521A0A024R913
ENSG00000132196ENST00000367915Q5T249
ENSG00000132196ENST00000466176F2Z2C2
ENSG00000132196ENST00000470195V9GYN3

Expression (GTEx)

0
5
10
15
20
25
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 biosynthesisKEGGko00100
Steroid hormone biosynthesisKEGGko00140
Steroid biosynthesisKEGGhsa00100
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273

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
128298052003Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis.30
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
190193352009Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.26
174541612007Expression analysis of the genes involved in estradiol and progesterone action in human ovarian endometriosis.18
202155362010Intratumoral estrogen disposition in breast cancer.17
201402622010Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.15
202148022010Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.11
169019342006Transcriptional regulation of human and murine 17beta-hydroxysteroid dehydrogenase type-7 confers its participation in cholesterol biosynthesis.7
194294422009Differential estrogenic 17beta-hydroxysteroid dehydrogenase activity and type 12 17beta-hydroxysteroid dehydrogenase expression levels in preadipocytes and differentiated adipocytes.7

Citation

Dessen P

HSD17B7 (hydroxysteroid 17-beta dehydrogenase 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40869/hsd17b7