HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B3provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 3provided by HGNC
Primary source: HGNC:HGNC:5212
See related: Ensembl:ENSG00000130948 MIM:605573; AllianceGenome:HGNC:5212
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EDH17B3; SDR12C2
Summary: This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (96235306..96302176, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (108406656..108473885, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (98997588..99064458, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
Title: Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
Lessons from 17beta-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
Title: Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17beta-Hydroxysteroid Dehydrogenase Type 3.
Title: Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17β-Hydroxysteroid Dehydrogenase Type 3.
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Title: The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Establishment of HEK293 cells expressing various missense mutations in the HSD17B3 gene associated with 46,XY DSD revealed that this system is effective to evaluate the enzymatic activities of mutant proteins.
Title: Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation.
mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development
Title: Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.
The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY disorders of sex development, is a polymorphism that does not cause the disorder.
Title: Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
The study shows that 17-beta-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects.
Title: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.
analysis of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid dehydrogenase type 3 and a founder effect
Title: Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
Mutation G133R in HSD17B3 results in almost complete loss of enzyme activity since it interferes with binding of cofactor NADPH.
Title: Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Testosterone 17-beta-dehydrogenase deficiency MedGen: C0268296 OMIM: 264300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92210 (e-PCR)
- UniSTS:87558

D9S1717 (e-PCR)
- UniSTS:66061

D9S1786 (e-PCR), detects polymorphism
- UniSTS:75106

G67554 (e-PCR)
- UniSTS:207018

G67552 (e-PCR)
- UniSTS:207019

G67555 (e-PCR)
- UniSTS:207020

G67556 (e-PCR)
- UniSTS:207021

G67557 (e-PCR)
- UniSTS:207022

G67553 (e-PCR)
- UniSTS:207023

SHGC-82489 (e-PCR)
- UniSTS:185017

SHGC-148737 (e-PCR)
- UniSTS:173038

023XH8 (e-PCR)
- UniSTS:37626

Readthrough SLC35D2-HSD17B3

Readthrough gene: SLC35D2-HSD17B3, Included gene: SLC35D2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables testosterone dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	TAS Traceable Author Statement more info
involved_in male genitalia development	TAS Traceable Author Statement more info	PubMed
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in testosterone biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase type 3

Names: 17-beta-HSD 3; 17-beta-HSD3; estradiol 17-beta-dehydrogenase 2; hydroxysteroid dehydrogenase 3; short chain dehydrogenase/reductase family 12C member 2; testicular 17-beta-hydroxysteroid dehydrogenase; testosterone 17-beta-dehydrogenase 3

NP_000188.1

EC 1.1.1.62

EC 1.1.1.64

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008157.1 RefSeqGene

Range

4977..71847

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1296

mRNA and Protein(s)

NM_000197.2 → NP_000188.1 17-beta-hydroxysteroid dehydrogenase type 3

See identical proteins and their annotated locations for NP_000188.1

Status: REVIEWED

Source sequence(s)

BC034281, HY027495

Consensus CDS

CCDS6716.1

UniProtKB/Swiss-Prot

P37058, Q5U0Q6

UniProtKB/TrEMBL

A0A0S2Z3U6, Q6FH62

Related

ENSP00000364412.3, ENST00000375263.8

Conserved Domains (1) summary

cd05356
Location:48 → 284

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs