hydroxysteroid 17-beta dehydrogenase 3

Summary
Gene Symbol
  • HSD17B3
Aliases
  • SDR12C2
  • short chain dehydrogenase/reductase family 12C, member 2
Organism
Homo sapiens (human)
External Links
NCBI Gene
3293
HGNC
5212
KEGG Gene ID
hsa:3293
PubChem
3293
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • NADP
  • Oxidoreductase
  • Pseudohermaphroditism
  • Reference proteome
  • Steroid biosynthesis
Proteins
Displaying all 2 entries
UniProt Protein Name
Q6FH62
P37058
  • Estradiol 17-beta-dehydrogenase 2
  • Short chain dehydrogenase/reductase family 12C member 2
  • Testicular 17-beta-hydroxysteroid dehydrogenase
  • Testosterone 17-beta-dehydrogenase 3
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K10207
Name
testosterone 17beta-dehydrogenase (NADP+) [EC:1.1.1.64]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 64 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050742 nicotine dependence
DOID:0050811 congenital adrenal hyperplasia
DOID:0060870 isolated growth hormone deficiency
DOID:0060872 isolated growth hormone deficiency type II
DOID:0060873 isolated growth hormone deficiency type IA
DOID:0060874 isolated growth hormone deficiency type IB
DOID:0060875 isolated growth hormone deficiency type III
DOID:0090070 hypogonadotropic hypogonadism
DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000037 Male pseudohermaphroditism
HP:0000044 Hypogonadotropic hypogonadism
HP:0000062 Ambiguous genitalia
HP:0000771 Gynecomastia
HP:0000789 Infertility
HP:0000795 Abnormality of the urethra
HP:0000821 Hypothyroidism
HP:0001939 Abnormality of metabolism/homeostasis
Displaying all 2 entries
Disease ID Disease Name
OMIM:264300
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:752
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000022
Gene Name
hydroxysteroid (17-beta) dehydrogenase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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