HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B2provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 2provided by HGNC
Primary source: HGNC:HGNC:5211
See related: Ensembl:ENSG00000086696 MIM:109685; AllianceGenome:HGNC:5211
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSD17; SDR9C2; EDH17B2
Summary: Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity and testosterone dehydrogenase (NAD+) activity. Involved in androgen metabolic process; estrogen biosynthetic process; and response to retinoic acid. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in duodenum (RPKM 177.2), placenta (RPKM 169.8) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (82035253..82098534)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (88098974..88162234)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (82068858..82132139)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Single-cell RNA sequencing reveals that HSD17B2 in cancer-associated fibroblasts promotes the development and progression of castration-resistant prostate cancer.
Title: Single-cell RNA sequencing reveals that HSD17B2 in cancer-associated fibroblasts promotes the development and progression of castration-resistant prostate cancer.
A long non-coding RNA as a direct vitamin D target transcribed from the antisense strand of the human HSD17B2 locus.
Title: A long non-coding RNA as a direct vitamin D target transcribed from the antisense strand of the human HSD17B2 locus.
Homology modeling meets site-directed mutagenesis: An ideal combination to elucidate the topology of 17beta-HSD2.
Title: Homology modeling meets site-directed mutagenesis: An ideal combination to elucidate the topology of 17β-HSD2.
Our findings provide evidence of the clinical relevance, significance, and regulation of HSD17B2 in prostate cancer progression, which might provide new strategies for clinical management by targeting the functional silencing mechanisms of HSD17B2.
Title: Functional Silencing of HSD17B2 in Prostate Cancer Promotes Disease Progression.
ATRA treatment decreased the mRNA expression of 17-beta-dehydrogenase 2 (HSD17B2) which converts estradiol into estrone in a dose-dependent manner
Title: Retinoic acid has the potential to suppress endometriosis development.
Our findings suggested that CYP19A1 and HSD17B2 polymorphisms might be associated with circulating sex hormone levels in Japanese postmenopausal women, independent of current BMI.
Title: Polymorphisms in CYP19A1, HSD17B1 and HSD17B2 genes and serum sex hormone level among postmenopausal Japanese women.
Data indicate that conversion of testosterone to 4-dione detected in abdominal adipose tissue is caused by 17b-HSD type 2 which is localized in the vasculature of the adipose compartment.
Title: Oxidative activity of 17β-hydroxysteroid dehydrogenase on testosterone in male abdominal adipose tissues and cellular localization of 17β-HSD type 2.
This study demonstrated that HSD17B2 transcript and protein levels are linked to some clinicopathological features in gastric cancer.
Title: Expression of 17β-hydroxysteroid dehydrogenase type 2 is associated with some clinicopathological features in gastric cancer.
High expression of either HSD17B2 or HMGCS2 predicted poor susceptibility of rectal cancer to preoperative chemoradiotherapy.
Title: The prognostic impact of lipid biosynthesis-associated markers, HSD17B2 and HMGCS2, in rectal cancer treated with neoadjuvant concurrent chemoradiotherapy.
In both arm and subumbilical skin biopsy of patients with idiopathic hirsutism, there was an up-regulation of HSD17B2 mRNA expression.
Title: Is idiopathic hirsutism (IH) really idiopathic? mRNA expressions of skin steroidogenic enzymes in women with IH.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

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

GDB:568470 (e-PCR)
- UniSTS:157720

RH65145 (e-PCR)
- UniSTS:91690

RH69006 (e-PCR)
- UniSTS:48945

SHGC-61197 (e-PCR)
- UniSTS:32839

D16S3306 (e-PCR)
- UniSTS:50855

D16S2749 (e-PCR)
- UniSTS:153319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IBA Inferred from Biological aspect of Ancestor more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables testosterone dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables testosterone dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	TAS Traceable Author Statement more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase type 2

Names: 17-beta-HSD 2; 20 alpha-hydroxysteroid dehydrogenase; 20-alpha-HSD; E2DH; estradiol 17-beta-dehydrogenase 2; microsomal 17-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 9C member 2; testosterone 17-beta-dehydrogenase

NP_002144.1

EC 1.1.1.239

EC 1.1.1.62

XP_047290005.1

EC 1.1.1.239

EC 1.1.1.62

XP_054236184.1

EC 1.1.1.239

EC 1.1.1.62

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.

mRNA and Protein(s)

NM_002153.3 → NP_002144.1 17-beta-hydroxysteroid dehydrogenase type 2

See identical proteins and their annotated locations for NP_002144.1

Status: VALIDATED

Source sequence(s)

AU139034, BC059170, BM670647, BP270993

Consensus CDS

CCDS10936.1

UniProtKB/Swiss-Prot

B2R7T4, P37059

UniProtKB/TrEMBL

Q53GD0

Related

ENSP00000199936.4, ENST00000199936.9

Conserved Domains (1) summary

cd09805
Location:83 → 362

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs