HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

2009-05-01 Affiliation

Identity

HGNC

HSD17B4

LOCATION

5q23.1

LOCUSID

3295

ALIAS

DBP,MFE-2,MFP-2,MPF-2,PRLTS1,SDR8C1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3295
MIM: 601860
HGNC: 5213
Ensembl: ENSG00000133835

Variants:

dbSNP: 3295
ClinVar: 3295
TCGA: ENSG00000133835
COSMIC: HSD17B4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000133835	ENST00000414835	P51659
ENSG00000133835	ENST00000442060	E7ER27
ENSG00000133835	ENST00000509514	E7EPL9
ENSG00000133835	ENST00000510025	P51659
ENSG00000133835	ENST00000510025	A0A0S2Z4J1
ENSG00000133835	ENST00000513628	E7ET17
ENSG00000133835	ENST00000515320	P51659
ENSG00000133835	ENST00000643250	A0A2R8Y674
ENSG00000133835	ENST00000643897	A0A2R8YF39
ENSG00000133835	ENST00000644146	A0A2R8YF45
ENSG00000133835	ENST00000645099	A0A2R8Y7L2
ENSG00000133835	ENST00000645702	A0A2R8Y7W2
ENSG00000133835	ENST00000645832	A0A2R8YEG2
ENSG00000133835	ENST00000646058	A0A2R8YD50
ENSG00000133835	ENST00000646355	A0A2R8YCN2
ENSG00000133835	ENST00000646554	A0A2R8Y674
ENSG00000133835	ENST00000646590	A0A2R8YDT8
ENSG00000133835	ENST00000647335	A0A2R8YCN2
ENSG00000133835	ENST00000647342	A0A2R8Y674

Expression (GTEx)

100

150

200

250

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

Pathway	Source	External ID
Primary bile acid biosynthesis	KEGG	ko00120
Primary bile acid biosynthesis	KEGG	hsa00120
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	hsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	M00104
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Peroxisomal lipid metabolism	REACTOME	R-HSA-390918
Beta-oxidation of pristanoyl-CoA	REACTOME	R-HSA-389887
Beta-oxidation of very long chain fatty acids	REACTOME	R-HSA-390247
Bile acid and bile salt metabolism	REACTOME	R-HSA-194068
Synthesis of bile acids and bile salts	REACTOME	R-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	REACTOME	R-HSA-193368
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	REACTOME	R-HSA-2046104
alpha-linolenic acid (ALA) metabolism	REACTOME	R-HSA-2046106

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19598235	2009	Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.	92
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20673864	2010	Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.	79
18281655	2008	Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.	39
18281655	2008	Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.	39
20734064	2010	A large-scale candidate gene association study of age at menarche and age at natural menopause.	38
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
18086758	2007	Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.	30
16766224	2006	Peroxisomal multifunctional protein-2: the enzyme, the patients and the knockout mouse model.	25
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25

Citation

Dessen P

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50895/hsd17b4-(hydroxysteroid-17-beta-dehydrogenase-4)