HSD17B4

GENERAL INFORMATION

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Gene name

HSD17B4

Gene description

Hydroxysteroid (17-beta) dehydrogenase 4

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression, with a granular pattern, in all tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA021302 , HPA021311 , HPA021479
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Epididymis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

HSD17B4 (HGNC Symbol)

Synonyms

DBP, MFE-2, SDR8C1

Description

Hydroxysteroid (17-beta) dehydrogenase 4 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Chromosome

5

Cytoband

q23.1

Chromosome location (bp)

119452443 - 119637199

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000133835 (version 78.38)

Entrez gene

3295

UniProt

P51659 (UniProt - Evidence at protein level)

neXtProt

NX_P51659

Antibodypedia

HSD17B4 antibodies


PROTEIN BROWSER

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ENST00000256216
 
ENST00000414835
 
ENST00000504811
 
ENST00000509514
 
ENST00000510025
 
ENST00000513628
 
ENST00000515320
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HSD17B4-001 ENSP00000256216
ENST00000256216
P51659
Show all »
Show » Show » 736 79.7 No 0
HSD17B4-002 ENSP00000424613
ENST00000515320
P51659
Show all »
Show » Show » 718 77.9 No 0
HSD17B4-003 ENSP00000420914
ENST00000504811
P51659
Show all »
Show » Show » 761 83 No 0
HSD17B4-004 ENSP00000411960
ENST00000414835
G5E9S2
Show all »
Show » Show » 596 64.6 No 0
HSD17B4-005 ENSP00000424940
ENST00000510025
E7EWE5
Show all »
Show » Show » 712 77.6 No 0
HSD17B4-006 ENSP00000426272
ENST00000509514
E7EPL9
Show all »
Show » 474 51 No 0
HSD17B4-007 ENSP00000425993
ENST00000513628
E7ET17
Show all »
Show » Show » 599 65 No 0