HSD17B12 Gene

HGNC Family	Short chain dehydrogenase/reductase superfamily (SDR)
Name	hydroxysteroid (17-beta) dehydrogenase 12
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Hydroxysteroid 17β–dehydrogenase type 12 (HSD17B12) is a multifunctional enzyme that occupies a pivotal position at the crossroads of steroid hormone metabolism and fatty acid elongation. On one hand, HSD17B12 catalyzes the conversion of estrone to estradiol, thereby contributing to estrogen biosynthesis; on the other, it performs a key role in the elongation of long‐chain and very long–chain fatty acids, particularly in the production of arachidonic acid—the precursor for prostaglandins. This dual functionality is critical for normal development and physiology.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In vivo studies using mouse models have demonstrated that loss of Hsd17b12 results in severe developmental defects and lethality, underscoring its essential role in embryogenesis and neuronal development, likely via its participation in arachidonic acid synthesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Furthermore, an altered expression of HSD17B12 is linked to reproductive function, as haploinsufficiency in female mice leads to subfertility associated with disturbances in ovarian steroidogenesis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", while in the testis, HSD17B12 has been identified as a candidate enzyme that sustains basal testosterone production, compensating for deficiencies in other steroidogenic enzymes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In cancer, dysregulation of HSD17B12 is emerging as a marker of aggressiveness. Overexpression of the enzyme has been associated with poor clinical outcomes in both invasive ductal carcinoma of the breast and ovarian carcinoma. In vitro silencing studies in tumor cell lines revealed that loss of HSD17B12 function inhibits cell proliferation and induces apoptosis—effects that can be reversed by supplementation with arachidonic acid rather than estradiol, highlighting the functional importance of its role in fatty acid elongation over steroid conversion in the cancer setting."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, genome‐wide association studies have identified HSD17B12 as a susceptibility locus in neuroblastoma"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "and colorectal cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", and polymorphisms in this gene are associated with altered local estrogen concentrations in breast tissue."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Collectively, these findings position HSD17B12 as a key enzyme whose activities in both steroid hormone conversion and fatty acid metabolism have profound implications for embryonic development, reproductive physiology, and the progression of various cancers.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Pia Rantakari, Heidi Lagerbohm, Mika Kaimainen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hydroxysteroid (17{beta}) dehydrogenase 12 is essential for mouse organogenesis and embryonic survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2009-0929"}], "href": "https://doi.org/10.1210/en.2009-0929"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20130115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20130115"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Heidi Kemiläinen, Marion Adam, Jenni Mäki-Jouppila, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2016-1252"}], "href": "https://doi.org/10.1210/en.2016-1252"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27490311"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27490311"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Diane Rebourcet, Rosa Mackay, Annalucia Darbey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ablation of the canonical testosterone production pathway via knockout of the steroidogenic enzyme HSD17B3, reveals a novel mechanism of testicular testosterone production."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.202000361R"}], "href": "https://doi.org/10.1096/fj.202000361R"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32557858"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32557858"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Marta Szajnik, Miroslaw J Szczepanski, Esther Elishaev, et al. "}, {"type": "b", "children": [{"type": "t", "text": "17β Hydroxysteroid dehydrogenase type 12 (HSD17B12) is a marker of poor prognosis in ovarian carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gynecol Oncol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygyno.2012.08.010"}], "href": "https://doi.org/10.1016/j.ygyno.2012.08.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22903146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22903146"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Carmen Visus, Diasuke Ito, Rajiv Dhir, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Hydroxysteroid (17β) dehydrogenase type 12 (HSD17B12) as a CD8+ T-cell-defined human tumor antigen of human carcinomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Immunol Immunother (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00262-011-1001-y"}], "href": "https://doi.org/10.1007/s00262-011-1001-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21409596"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21409596"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mario Capasso, Sharon J Diskin, Francesca Totaro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgs380"}], "href": "https://doi.org/10.1093/carcin/bgs380"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23222812"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23222812"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Francesca Totaro, Flora Cimmino, Piero Pignataro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0076810"}], "href": "https://doi.org/10.1371/journal.pone.0076810"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24204677"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24204677"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yu Lin, Yixuan Meng, Jinying Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.16026"}], "href": "https://doi.org/10.1111/jcmm.16026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33118286"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33118286"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Ben P Haynes, Anne Hege Straume, Jürgen Geisler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intratumoral estrogen disposition in breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Cancer Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/1078-0432.CCR-09-2481"}], "href": "https://doi.org/10.1158/1078-0432.CCR-09-2481"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20215536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20215536"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Oukseub Lee, Angela J Fought, Ali Shidfar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of genetic polymorphisms with local steroid metabolism in human benign breasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Steroids (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.steroids.2021.108937"}], "href": "https://doi.org/10.1016/j.steroids.2021.108937"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34762930"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34762930"}]}]}]}
Synonyms	SDR12C1, KAR
Proteins	DHB12_HUMAN
NCBI Gene ID	51144
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

HSD17B12 has 7,840 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 128 datasets.

Click the + buttons to view associations for HSD17B12 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

HSD17B12 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by HSD17B12 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HSD17B12 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of HSD17B12 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of HSD17B12 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of HSD17B12 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of HSD17B12 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HSD17B12 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of HSD17B12 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HSD17B12 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HSD17B12 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of HSD17B12 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of HSD17B12 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with HSD17B12 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with HSD17B12 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of HSD17B12 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of HSD17B12 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of HSD17B12 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing HSD17B12 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing HSD17B12 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with HSD17B12 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with HSD17B12 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of HSD17B12 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with HSD17B12 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with HSD17B12 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with HSD17B12 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with HSD17B12 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by HSD17B12 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with HSD17B12 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with HSD17B12 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with HSD17B12 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with HSD17B12 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with HSD17B12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with HSD17B12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at HSD17B12 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of HSD17B12 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of HSD17B12 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing HSD17B12 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with HSD17B12 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with HSD17B12 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of HSD17B12 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.