HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

2009-05-01  

Identity

HGNC
LOCATION
5q23.1
LOCUSID
ALIAS
DBP,MFE-2,MFP-2,MPF-2,PRLTS1,SDR8C1
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133835ENST00000414835P51659
ENSG00000133835ENST00000442060E7ER27
ENSG00000133835ENST00000509514E7EPL9
ENSG00000133835ENST00000510025P51659
ENSG00000133835ENST00000510025A0A0S2Z4J1
ENSG00000133835ENST00000513628E7ET17
ENSG00000133835ENST00000515320P51659
ENSG00000133835ENST00000643250A0A2R8Y674
ENSG00000133835ENST00000643897A0A2R8YF39
ENSG00000133835ENST00000644146A0A2R8YF45
ENSG00000133835ENST00000645099A0A2R8Y7L2
ENSG00000133835ENST00000645702A0A2R8Y7W2
ENSG00000133835ENST00000645832A0A2R8YEG2
ENSG00000133835ENST00000646058A0A2R8YD50
ENSG00000133835ENST00000646355A0A2R8YCN2
ENSG00000133835ENST00000646554A0A2R8Y674
ENSG00000133835ENST00000646590A0A2R8YDT8
ENSG00000133835ENST00000647335A0A2R8YCN2
ENSG00000133835ENST00000647342A0A2R8Y674

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
Primary bile acid biosynthesisKEGGhsa00120
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Beta-oxidation of pristanoyl-CoAREACTOMER-HSA-389887
Beta-oxidation of very long chain fatty acidsREACTOMER-HSA-390247
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
390521012024Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.0
390521012024Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.0
373786962023HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity.0
373786962023HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity.0
339350422021The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine.3
339350422021The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine.3
326780702020Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.11
331157672020Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.3
326780702020Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.11
331157672020Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.3
305404942019Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.58
30747222201917β‑hydroxysteroid dehydrogenase 4 induces liver cancer proliferation‑associated genes via STAT3 activation.5
305404942019Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.58
30747222201917β‑hydroxysteroid dehydrogenase 4 induces liver cancer proliferation‑associated genes via STAT3 activation.5
269702542017Expanding the genotypic spectrum of Perrault syndrome.45

Citation

Dessen P

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50895/gene-fusions/js/lib/haematological-explorer/