hydroxysteroid 17-beta dehydrogenase 4

Summary
Gene Symbol
  • HSD17B4
Aliases
  • 17-beta-HSD IV
  • 17-beta-hydroxysteroid dehydrogenase 4
  • 17beta-estradiol dehydrogenase type IV
  • 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
  • D-3-hydroxyacyl-CoA dehydratase
  • D-bifunctional protein, peroxisomal
  • DBP
  • MFE-2
  • SDR8C1
  • beta-hydroxyacyl dehydrogenase
  • beta-keto-reductase
  • peroxisomal multifunctional protein 2
  • short chain dehydrogenase/reductase family 8C, member 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
3295
HGNC
5213
KEGG Gene ID
hsa:3295
PubChem
3295
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Fatty acid metabolism
  • Isomerase
  • Lipid metabolism
  • Lyase
  • NAD
  • Oxidoreductase
  • Peroxisome
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 4 entries
UniProt Protein Name
B3KSP2
P51659
  • 17-beta-hydroxysteroid dehydrogenase 4
  • D-bifunctional protein
  • Multifunctional protein 2
  • Short chain dehydrogenase/reductase family 8C member 1
B2R659
A0A0S2Z4J1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000133835

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12405
Name
(3R)-3-hydroxyacyl-CoA dehydrogenase / 3a,7a,12a-trihydroxy-5b-cholest-24-enoyl-CoA hydratase / enoyl-CoA hydratase 2 [EC:1.1.1.- 4.2.1.107 4.2.1.119]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 121 in total
DO ID Disease Name Source
DOID:0050444 infantile Refsum disease
DOID:0050562 West syndrome
DOID:0050753 cerebellar ataxia
DOID:0050857 Perrault syndrome
DOID:0050951 hereditary ataxia
DOID:0060249 scoliosis
DOID:0060602 alpha-methylacyl-CoA racemase deficiency
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
DOID:0080476 peroxisome biogenesis disorder 1A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000107 Renal cyst
HP:0000133 Gonadal dysgenesis
HP:0000218 High palate
HP:0000239 Large fontanelles
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000270 Delayed cranial suture closure
HP:0000278 Retrognathia
HP:0000286 Epicanthus
Displaying all 2 entries
Disease ID Disease Name
OMIM:261515
  • d-bifunctional protein deficiency
OMIM:233400
  • Perrault syndrome 1
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000062
Gene Name
hydroxysteroid (17-beta) dehydrogenase 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024