HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B12provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 12provided by HGNC
Primary source: HGNC:HGNC:18646
See related: Ensembl:ENSG00000149084 MIM:609574; AllianceGenome:HGNC:18646
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: KAR; SDR12C1
Summary: This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (43556721..43856615)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (43731842..44012332)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (43702288..43878165)

Chromosome 11 - NC_000011.10 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?

Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.
Title: Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.
Association of genetic polymorphisms with local steroid metabolism in human benign breasts.
Title: Association of genetic polymorphisms with local steroid metabolism in human benign breasts.
Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.
Title: Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.
An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.
Title: An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.
Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.
Title: Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.
Silencing of hydroxysteroid 17-beta dehydrogenase 12 essentially catalyzes the 3-ketoacyl-CoA reduction step in long-chain fatty acids production, modulates proliferation and migration of breast cancer cells in a cell line-dependent manner.
Title: Impact of 17β-HSD12, the 3-ketoacyl-CoA reductase of long-chain fatty acid synthesis, on breast cancer cell proliferation and migration.
Study identified two independent SNPs of ELOVL2 rs3734398 T>C and HSD17B12 rs11037684 A>G that predicted cutaneous melanoma disease-specific survival. The ELOVL2 rs3734398 variant CC genotype was found to be associated with a significantly increased mRNA expression level.
Title: Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival.
Among lung-expressing enzymes only HSD17beta12 exhibited activity against tobacco-specific carcinogen nitrosamine NNK. siRNA knock-down of HSD17beta12 resulted in significant decreases in (R)-NNAL-formation activity in HEK293 cells. These data suggest that both cytosolic and microsomal enzymes are active against NNK and that HSD17beta12 is the major active microsomal reductase that contributes to (R)-NNAL formation in ...
Title: Carbonyl reduction of NNK by recombinant human lung enzymes: identification of HSD17β12 as the reductase important in (R)-NNAL formation in human lung.
The expression of HSD17B12 increased along with the severity of ovarian cancer, and the expression mimicked COX-2 expression and intensity. This further suggests the involvement of HSD17B12 in AA production, and its coexpression with COX-2 indicates a role for the enzyme in the increased prostaglandin production during ovarian cancer progression.
Title: The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.
Significant associations have been found between CpG sites and patient sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone.
Title: Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

EBI GWAS Catalog

Description
A novel common variant in DCST2 is associated with length in early life and height in adulthood. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies six new loci associated with forced vital capacity. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

RH44317 (e-PCR)
- UniSTS:34103

L18426 (e-PCR)
- UniSTS:34648

SHGC-132062 (e-PCR)
- UniSTS:170625

D11S3114 (e-PCR)
- UniSTS:152207

D11S2799 (e-PCR)
- UniSTS:151995

HSD17B12_1813 (e-PCR)
- UniSTS:280765

D11S4606 (e-PCR)
- UniSTS:70883

WI-17839 (e-PCR)
- UniSTS:17896

STS-H70621 (e-PCR)
- UniSTS:26868

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity	IEA Inferred from Electronic Annotation more info
enables fibronectin binding	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables very-long-chain 3-oxoacyl-CoA reductase activity	EXP Inferred from Experiment more info	PubMed
enables very-long-chain 3-oxoacyl-CoA reductase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in estrogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in fatty acid elongation, saturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in positive regulation of cell-substrate adhesion	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 membrane	TAS Traceable Author Statement more info
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
part_of fatty acid elongase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: very-long-chain 3-oxoacyl-CoA reductase

Names: 17-beta-HSD 12; 17-beta-hydroxysteroid dehydrogenase 12; 17beta-HSD type 12; 3-ketoacyl-CoA reductase; estradiol 17-beta-dehydrogenase 12; short chain dehydrogenase/reductase family 12C member 1; steroid dehydrogenase homolog

NP_057226.1

EC 1.1.1.330

EC 1.1.1.62

XP_011518458.1

EC 1.1.1.330

EC 1.1.1.62

XP_016873370.1

EC 1.1.1.330

EC 1.1.1.62

XP_024304339.1

EC 1.1.1.330

EC 1.1.1.62

XP_024304340.1

EC 1.1.1.330

EC 1.1.1.62

XP_024304341.1

EC 1.1.1.330

EC 1.1.1.62

XP_047283030.1

EC 1.1.1.330

EC 1.1.1.62

XP_054225030.1

EC 1.1.1.330

EC 1.1.1.62

XP_054225031.1

EC 1.1.1.330

EC 1.1.1.62

XP_054225032.1

EC 1.1.1.330

EC 1.1.1.62

XP_054225033.1

EC 1.1.1.330

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_016142.3 → NP_057226.1 very-long-chain 3-oxoacyl-CoA reductase

See identical proteins and their annotated locations for NP_057226.1

Status: VALIDATED

Source sequence(s)

AF078850, BC012043, BP359822

Consensus CDS

CCDS7905.1

UniProtKB/Swiss-Prot

A8K9B0, D3DR23, Q53GQ0, Q96EA9, Q96JU2, Q9Y6G8

UniProtKB/TrEMBL

B3KQJ0

Related

ENSP00000278353.4, ENST00000278353.10

Conserved Domains (3) summary

cd05356
Location:50 → 289

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

COG0300
Location:50 → 300

DltE; Short-chain dehydrogenase [General function prediction only]

cl21454
Location:3 → 83

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

43556721..43856615

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448573.2 → XP_024304341.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2

Conserved Domains (1) summary

cd05356
Location:1 → 215

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
XM_047427074.1 → XP_047283030.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2
XM_024448571.2 → XP_024304339.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2

Conserved Domains (1) summary

cd05356
Location:1 → 215

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
XM_024448572.2 → XP_024304340.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2

Conserved Domains (1) summary

cd05356
Location:1 → 215

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
XM_017017881.2 → XP_016873370.1 very-long-chain 3-oxoacyl-CoA reductase isoform X1

UniProtKB/TrEMBL

B4DWS6
XM_011520156.2 → XP_011518458.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2

Conserved Domains (1) summary

cd05356
Location:1 → 215

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

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

43731842..44012332

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369056.1 → XP_054225031.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2
XM_054369057.1 → XP_054225032.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2
XM_054369055.1 → XP_054225030.1 very-long-chain 3-oxoacyl-CoA reductase isoform X1
XM_054369058.1 → XP_054225033.1 very-long-chain 3-oxoacyl-CoA reductase isoform X2