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] See more...

Aliases for HSD17B12 Gene

Aliases for HSD17B12 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 12 2 3 5
  • 3-Ketoacyl-CoA Reductase 2 3 4
  • SDR12C1 2 3 4
  • KAR 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C Member 1 3 4
  • Very-Long-Chain 3-Oxoacyl-CoA Reductase 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 12 3 4
  • Estradiol 17-Beta-Dehydrogenase 12 3 4
  • 17-Beta-HSD 12 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C, Member 1 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 12 2
  • Steroid Dehydrogenase Homolog 3
  • 17beta-HSD Type 12 3
  • EC 1.1.1.330 4
  • EC 1.1.1.62 4
  • HSD17B12 5

External Ids for HSD17B12 Gene

Previous GeneCards Identifiers for HSD17B12 Gene

  • GC11M046055
  • GC11P044385
  • GC11P043741
  • GC11P043666
  • GC11P043658
  • GC11P043702
  • GC11P043412
  • GC11P043577
  • GC11P043556

Summaries for HSD17B12 Gene

Entrez Gene Summary for HSD17B12 Gene

  • 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]

GeneCards Summary for HSD17B12 Gene

HSD17B12 (Hydroxysteroid 17-Beta Dehydrogenase 12) is a Protein Coding gene. Diseases associated with HSD17B12 include Qualitative Platelet Defect and Spinocerebellar Ataxia 34. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and collagen binding. An important paralog of this gene is HSD17B3.

UniProtKB/Swiss-Prot Summary for HSD17B12 Gene

  • Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.

Gene Wiki entry for HSD17B12 Gene

Additional gene information for HSD17B12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B12 Gene

Genomics for HSD17B12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD17B12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J043679 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 619.5 +104.7 104740 3.2 SP1 CREB1 GATAD2A REST ZNF629 RFX1 KDM1A POLR2A BACH1 FOS HSD17B12 RF00017-900 RPL23AP63 ENSG00000283341 ALKBH3
GH11J043574 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 606.5 -0.5 -482 2.1 CREB1 CTCF ZNF629 REST TFE3 IKZF1 ZNF7 PRDM1 ZNF143 MTA2 HSD17B12 MIR670HG ENSG00000283217 TTC17
GH11J043577 Enhancer 0.9 ENCODE 600.7 +0.7 700 0.2 CTCF ZNF629 REST TFE3 IKZF1 KDM1A ZNF7 ZNF143 MTA2 PATZ1 ENSG00000283341 HSD17B12 ENSG00000283217 ALKBH3
GH11J043582 Enhancer 0.3 Ensembl 600.7 +1.6 1625 0.2 EZH2 ENSG00000283341 HSD17B12 ENSG00000283217 ALKBH3
GH11J043746 Enhancer 1 Ensembl ENCODE 87 +170.7 170725 2.8 LEF1 IKZF1 JUND MTA2 PKNOX1 REST ZNF24 DPF2 HDAC1 SOX6 HSD17B12 piR-54163 piR-56341-026 ALKBH3 ENSG00000283341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B12

Top Transcription factor binding sites by QIAGEN in the HSD17B12 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-3beta
  • Lmo2
  • Nkx2-5
  • STAT1
  • YY1
  • Zic1

Genomic Locations for HSD17B12 Gene

Genomic Locations for HSD17B12 Gene
chr11:43,576,476-43,856,617
(GRCh38/hg38)
Size:
280,142 bases
Orientation:
Plus strand
chr11:43,577,986-43,878,169
(GRCh37/hg19)
Size:
300,184 bases
Orientation:
Plus strand

Genomic View for HSD17B12 Gene

Genes around HSD17B12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B12 Gene

Proteins for HSD17B12 Gene

  • Protein details for HSD17B12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GQ0-DHB12_HUMAN
    Recommended name:
    Very-long-chain 3-oxoacyl-CoA reductase
    Protein Accession:
    Q53GQ0
    Secondary Accessions:
    • A8K9B0
    • D3DR23
    • Q96EA9
    • Q96JU2
    • Q9Y6G8

    Protein attributes for HSD17B12 Gene

    Size:
    312 amino acids
    Molecular mass:
    34324 Da
    Quaternary structure:
    • Interacts with ELOVL1 and LASS2.
    SequenceCaution:
    • Sequence=AK027882; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for HSD17B12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B12 Gene

Post-translational modifications for HSD17B12 Gene

  • Ubiquitination at Lys86, Lys223, Lys244, Lys257, and Lys261
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HSD17B12 Gene

Domains & Families for HSD17B12 Gene

Gene Families for HSD17B12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD17B12 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
ProtoNet:

Suggested Antigen Peptide Sequences for HSD17B12 Gene

GenScript: Design optimal peptide antigens:
  • Hydroxysteroid (17-beta) dehydrogenase 12, isoform CRA_a (D3DR22_HUMAN)
  • 3-ketoacyl-CoA reductase (DHB12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53GQ0

UniProtKB/Swiss-Prot:

DHB12_HUMAN :
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Domain:
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
genes like me logo Genes that share domains with HSD17B12: view

Function for HSD17B12 Gene

Molecular function for HSD17B12 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain (3R)-hydroxyacyl-CoA + NADP(+) = a very-long-chain 3-oxoacyl-CoA + H(+) + NADPH; Xref=Rhea:RHEA:48680, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:85440, ChEBI:CHEBI:90725; EC=1.1.1.330; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62; Evidence={ECO:0000269|PubMed:16166196};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NADP(+) = estrone + H(+) + NADPH; Xref=Rhea:RHEA:24616, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.62; Evidence={ECO:0000269|PubMed:16166196};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.5 uM for estrone {ECO:0000269|PubMed:16166196};

Enzyme Numbers (IUBMB) for HSD17B12 Gene

Phenotypes From GWAS Catalog for HSD17B12 Gene

Gene Ontology (GO) - Molecular Function for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IEA --
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA --
GO:0005515 protein binding IPI 20937905
GO:0005518 collagen binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with HSD17B12: view
genes like me logo Genes that share phenotypes with HSD17B12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B12

CRISPR Products

miRNA for HSD17B12 Gene

miRTarBase miRNAs that target HSD17B12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B12

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B12 Gene

Localization for HSD17B12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B12 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B12 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with HSD17B12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B12 Gene

Pathways & Interactions for HSD17B12 Gene

genes like me logo Genes that share pathways with HSD17B12: view

UniProtKB/Swiss-Prot Q53GQ0-DHB12_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.
  • Pathway: Steroid biosynthesis; estrogen biosynthesis.

Gene Ontology (GO) - Biological Process for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006703 estrogen biosynthetic process IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
genes like me logo Genes that share ontologies with HSD17B12: view

No data available for SIGNOR curated interactions for HSD17B12 Gene

Drugs & Compounds for HSD17B12 Gene

(11) Drugs for HSD17B12 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1113
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 22
NADH Approved Nutra 0
Acetoacetyl-CoA Experimental Pharma 0

(13) Additional Compounds for HSD17B12 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta,17beta-Dihydroxy-4-androsten-3-one
  • 11beta-Hydroxytestosterone
  • 11b-Hydroxytestosterone
  • 11β-hydroxytestosterone
  • 11b,17b-Dihydroxy-4-androsten-3-one
  • 11β,17β-dihydroxy-4-androsten-3-one
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxy-4-androstene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
  • 11b-Hydroxy-4-androstene-3,17-dione
  • 11β-hydroxy-4-androstene-3,17-dione
382-44-5
16b-Hydroxyestrone
  • (16beta)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 16-Hydroxyestrone
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 3,16beta-Dihydroxy-estra-1,3,5(10)-trien-17-one
  • (16b)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
966-06-3
3-hydroxyoctadecanoyl-CoA
  • beta-Hydroxy stearyl-CoA
  • 3-Hydroxyoctadecanoyl-CoA
  • beta-Hydroxystearoyl-CoA
42578-91-6
3-Oxohexadecanoyl-CoA
  • 3-Ketopalmitoleoyl-CoA
  • 3-Ketopalmitoleoyl-coenzyme A
  • 3-Ketopalmitoyl-CoA
  • 3-Ketopalmitoyl-coenzyme A
  • 3-oxo-cis-9-Hexadecenoyl-CoA
34619-89-1
genes like me logo Genes that share compounds with HSD17B12: view

Transcripts for HSD17B12 Gene

mRNA/cDNA for HSD17B12 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B12

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B12 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:

Relevant External Links for HSD17B12 Gene

GeneLoc Exon Structure for
HSD17B12

Expression for HSD17B12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B12 Gene

Protein differential expression in normal tissues from HIPED for HSD17B12 Gene

This gene is overexpressed in Fetal testis (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B12 Gene



Protein tissue co-expression partners for HSD17B12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B12

SOURCE GeneReport for Unigene cluster for HSD17B12 Gene:

Hs.132513

mRNA Expression by UniProt/SwissProt for HSD17B12 Gene:

Q53GQ0-DHB12_HUMAN
Tissue specificity: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets.

Evidence on tissue expression from TISSUES for HSD17B12 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Thyroid gland(4.5)
  • Pancreas(4.4)
  • Kidney(4.1)
  • Skin(3.5)
  • Intestine(3.3)
  • Adrenal gland(2.5)
  • Muscle(2.4)
  • Lung(2.3)
  • Blood(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with HSD17B12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B12 Gene

Orthologs for HSD17B12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSD17B12 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSD17B12 30 31
  • 87.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSD17B12 30 31
  • 85.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hsd17b12 30
  • 85.49 (n)
Mouse
(Mus musculus)
Mammalia Hsd17b12 30 17 31
  • 84.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HSD17B12 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B12 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HSD17B12 30 31
  • 72.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsd17b12 30
  • 64.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia let-767co-prov 30
Zebrafish
(Danio rerio)
Actinopterygii hsd17b12b 30 31
  • 62.53 (n)
OneToMany
hsd17b12a 31
  • 58 (a)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9473 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004532 30
  • 53.72 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1444 30 31 32
  • 53.23 (n)
OneToOne
CG13284 32
  • 45 (a)
CG6012 32
  • 32 (a)
Worm
(Caenorhabditis elegans)
Secernentea let-767 30
  • 48.62 (n)
F25G6.5 32
  • 37 (a)
C06B3.4 32
  • 36 (a)
C06B3.5 32
  • 35 (a)
F11A5.12 32
  • 35 (a)
daz-1 32
  • 34 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 30 31 33
  • 47.2 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09812g 30
  • 46.69 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR059C 30
  • 44.73 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons KCR1 30
  • 53.36 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0483500 30
  • 49.17 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G9.15 30
  • 50.25 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU11297 30
  • 45.9 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToOne
Species where no ortholog for HSD17B12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HSD17B12 Gene

ENSEMBL:
Gene Tree for HSD17B12 (if available)
TreeFam:
Gene Tree for HSD17B12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B12: view image

Paralogs for HSD17B12 Gene

(4) SIMAP similar genes for HSD17B12 Gene using alignment to 4 proteins:

  • DHB12_HUMAN
  • D3DR22_HUMAN
  • E9PI21_HUMAN
  • Q96EA9_HUMAN

Pseudogenes.org Pseudogenes for HSD17B12 Gene

genes like me logo Genes that share paralogs with HSD17B12: view

Variants for HSD17B12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B12 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11555762 - p.Ser280Leu

Additional dbSNP identifiers (rs#s) for HSD17B12 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSD17B12 Gene

Variant ID Type Subtype PubMed ID
esv2672818 CNV deletion 23128226
esv2744410 CNV deletion 23290073
esv3303641 CNV mobile element insertion 20981092
esv3363000 CNV insertion 20981092
esv3547668 CNV deletion 23714750
esv3579493 CNV loss 25503493
esv3626151 CNV loss 21293372
esv3626152 CNV loss 21293372
nsv1127177 CNV deletion 24896259
nsv528546 CNV loss 19592680
nsv7754 CNV insertion 18451855
nsv7755 CNV insertion 18451855
nsv832136 CNV gain+loss 17160897
nsv832138 CNV gain 17160897
nsv972005 CNV duplication 23825009
nsv975907 CNV duplication 23825009
nsv983006 CNV duplication 23825009

Variation tolerance for HSD17B12 Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B12 Gene

Disorders for HSD17B12 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HSD17B12 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HSD17B12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B12 Gene

Publications for HSD17B12 Gene

  1. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. (PMID: 12482854) Moon YA … Horton JD (The Journal of biological chemistry 2003) 2 3 4
  2. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 41
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  5. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. (PMID: 19460435) Plourde M … Simard J (The Journal of steroid biochemistry and molecular biology 2009) 3 41

Products for HSD17B12 Gene

  • Signalway Proteins for HSD17B12

Sources for HSD17B12 Gene