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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
External Ids for HSD17B12 Gene
- HGNC: 18646
- Entrez Gene: 51144
- Ensembl: ENSG00000149084
- OMIM: 609574
- UniProtKB: Q53GQ0
Previous GeneCards Identifiers for HSD17B12 Gene
- GC11M046055
- GC11P044385
- GC11P043741
- GC11P043666
- GC11P043658
- GC11P043702
- GC11P043412
- GC11P043577
- GC11P043556
Summaries 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.
Additional gene information for HSD17B12 Gene
- HGNC(18646)
- Entrez Gene(51144)
- Ensembl(ENSG00000149084)
- OMIM(609574)
- UniProtKB(Q53GQ0)
- Open Targets Platform(ENSG00000149084)
- Monarch Initiative
- Search for HSD17B12 at DataMed
- Search for HSD17B12 at HumanCyc
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:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
HSD17B12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HSD17B12 Gene
Post-translational modifications for HSD17B12 Gene
Other Protein References for HSD17B12 Gene
Antibody Products
- G Biosciences Immunotag™ HSD17B12 Antibody
- LifeSpan BioSciences HSD17B12 Antibody
-
Custom Antibody ServicesOriGene Antibodies for HSD17B12
- Novus Biologicals Antibodies for HSD17B12
- Invitrogen Antibodies for HSD17B12 (AFLGC-HSD17B12)
-
Boster Bio Antibodies for HSD17B12
Protein Products
-
OriGene Purified Proteins for HSD17B12
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B12
- Origene Custom Protein Services for HSD17B12
-
Signalway Proteins for HSD17B12
-
Abcam proteins for HSD17B12
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
Q53GQ0UniProtKB/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.
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
| 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 | -- |
Phenotypes for HSD17B12 Gene
- MGI mutant phenotypes for HSD17B12:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HSD17B12:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella-containing vacuole maturation
- Decreased Salmonella enterica Typhimurium membrane closure
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in ovarian lineage
- Increased Salmonella enterica Typhimurium membrane closure
Animal Model Products
-
Taconic Biosciences Mouse Models for HSD17B12
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HSD17B12 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HSD17B12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B12
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B12
miRNA for HSD17B12 Gene
- miRTarBase miRNAs that target HSD17B12
-
- hsa-miR-155-5p (MIRT001545)
- hsa-miR-874-3p (MIRT037759)
- hsa-miR-191-5p (MIRT045813)
- hsa-miR-381-3p (MIRT440483)
- hsa-miR-6811-5p (MIRT443673)
- hsa-miR-6511b-5p (MIRT443674)
- hsa-miR-4771 (MIRT443675)
- hsa-miR-1205 (MIRT443676)
- hsa-miR-1972 (MIRT443677)
- hsa-miR-4494 (MIRT443678)
- hsa-miR-6511a-5p (MIRT443679)
- hsa-miR-1910-3p (MIRT443680)
- hsa-miR-509-5p (MIRT443681)
- hsa-miR-509-3-5p (MIRT443682)
- hsa-miR-4418 (MIRT443683)
- hsa-miR-3714 (MIRT443684)
- hsa-miR-548an (MIRT443685)
- hsa-miR-633 (MIRT531439)
- hsa-miR-30e-3p (MIRT531440)
- hsa-miR-30d-3p (MIRT531441)
- hsa-miR-30a-3p (MIRT531442)
- hsa-miR-510-3p (MIRT531443)
- hsa-miR-222-5p (MIRT531444)
- hsa-miR-142-3p (MIRT531445)
- hsa-miR-494-3p (MIRT531446)
- hsa-miR-29a-5p (MIRT531447)
- hsa-miR-3129-5p (MIRT531448)
- hsa-miR-199b-3p (MIRT531449)
- hsa-miR-199a-3p (MIRT531450)
- hsa-miR-936 (MIRT531451)
- hsa-miR-205-3p (MIRT531452)
- hsa-miR-4280 (MIRT531453)
- hsa-miR-3163 (MIRT564181)
- hsa-miR-3680-3p (MIRT649059)
- hsa-miR-557 (MIRT649060)
- hsa-miR-507 (MIRT649061)
- hsa-miR-450b-5p (MIRT649062)
- hsa-miR-527 (MIRT649063)
- hsa-miR-518a-5p (MIRT649064)
- hsa-miR-548aw (MIRT649065)
- hsa-miR-1288-5p (MIRT649066)
- hsa-miR-382-3p (MIRT649067)
- hsa-miR-4284 (MIRT649068)
- hsa-miR-4772-3p (MIRT649069)
- hsa-miR-4638-5p (MIRT649070)
- hsa-miR-1307-3p (MIRT649071)
- hsa-miR-1304-3p (MIRT649072)
- hsa-miR-6741-3p (MIRT649073)
- hsa-miR-4726-3p (MIRT649074)
- hsa-miR-6764-5p (MIRT649075)
- hsa-miR-1915-3p (MIRT649076)
- hsa-miR-6840-3p (MIRT649077)
- hsa-miR-5698 (MIRT664579)
- hsa-miR-744-3p (MIRT664580)
- hsa-miR-4423-5p (MIRT664581)
- hsa-miR-6501-5p (MIRT664582)
- hsa-miR-675-5p (MIRT664583)
- hsa-miR-4466 (MIRT664584)
- hsa-miR-367-5p (MIRT664585)
- hsa-miR-1267 (MIRT664586)
- hsa-miR-103b (MIRT664587)
- hsa-miR-7705 (MIRT664588)
- hsa-miR-7703 (MIRT664589)
- hsa-miR-6720-5p (MIRT664590)
- hsa-miR-6512-3p (MIRT664591)
- hsa-miR-542-3p (MIRT664592)
- hsa-miR-5186 (MIRT664593)
- hsa-miR-4252 (MIRT664594)
- hsa-miR-4793-3p (MIRT664595)
- hsa-miR-766-3p (MIRT664596)
- hsa-miR-6849-3p (MIRT664597)
- hsa-miR-598-5p (MIRT664598)
- hsa-miR-1273g-3p (MIRT664599)
- hsa-miR-508-5p (MIRT664600)
- hsa-miR-1273a (MIRT664601)
- hsa-miR-6501-3p (MIRT664602)
- hsa-miR-887-5p (MIRT675490)
- hsa-miR-6780a-5p (MIRT675491)
- hsa-miR-6779-5p (MIRT675492)
- hsa-miR-3689c (MIRT675493)
- hsa-miR-3689b-3p (MIRT675494)
- hsa-miR-3689a-3p (MIRT675495)
- hsa-miR-30b-3p (MIRT675496)
- hsa-miR-1273h-5p (MIRT675497)
- hsa-miR-6788-5p (MIRT675498)
- hsa-miR-30c-2-3p (MIRT675499)
- hsa-miR-30c-1-3p (MIRT675500)
- hsa-miR-7977 (MIRT675501)
- hsa-miR-6799-5p (MIRT675502)
- hsa-miR-6883-5p (MIRT675503)
- hsa-miR-6785-5p (MIRT675504)
- hsa-miR-4728-5p (MIRT675505)
- hsa-miR-149-3p (MIRT675506)
- hsa-miR-7106-5p (MIRT675507)
- hsa-miR-24-3p (MIRT675508)
- hsa-miR-383-3p (MIRT675509)
- hsa-miR-3614-5p (MIRT675510)
- hsa-miR-1227-3p (MIRT695783)
- hsa-miR-3160-3p (MIRT695784)
- hsa-miR-1247-3p (MIRT761540)
- hsa-miR-340-3p (MIRT765719)
- hsa-miR-3689d (MIRT767071)
- hsa-miR-4537 (MIRT770163)
- hsa-miR-455-3p (MIRT770339)
- hsa-miR-4684-5p (MIRT770998)
- hsa-miR-548c-3p (MIRT774313)
- hsa-miR-6134 (MIRT775944)
- hsa-miR-6499-3p (MIRT776277)
- hsa-miR-6516-5p (MIRT777137)
- hsa-miR-6771-3p (MIRT778625)
- hsa-miR-6807-5p (MIRT779580)
- hsa-miR-6827-3p (MIRT779917)
- hsa-miR-6851-5p (MIRT780409)
- hsa-miR-6880-5p (MIRT780832)
- hsa-miR-7847-3p (MIRT782149)
- hsa-miR-129-5p (MIRT783508)
- hsa-miR-2113 (MIRT784211)
- hsa-miR-371b-5p (MIRT785307)
- hsa-miR-373-5p (MIRT785342)
- hsa-miR-4474-3p (MIRT785961)
- hsa-miR-4698 (MIRT786442)
- hsa-miR-5010-3p (MIRT786990)
- hsa-miR-5692a (MIRT787778)
- hsa-miR-616-5p (MIRT788105)
- hsa-miR-7108-5p (MIRT789404)
- hsa-miR-8063 (MIRT789781)
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B12 Gene
Pathways & Interactions for HSD17B12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fatty Acyl-CoA Biosynthesis | ||
| 2 | Metabolism |
.40
|
|
| 3 | alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | ||
| 4 | Metabolism of steroid hormones | ||
| 5 | Steroid hormone biosynthesis | ||
Pathways by source for HSD17B12 Gene
8 Reactome pathways for HSD17B12 Gene
5 KEGG pathways for HSD17B12 Gene
UniProtKB/Swiss-Prot Q53GQ0-DHB12_HUMAN
- Pathway: Lipid metabolism; fatty acid biosynthesis.
- Pathway: Steroid biosynthesis; estrogen biosynthesis.
Interacting Proteins for HSD17B12 Gene
Selected Interacting proteins:
Q53GQ0-DHB12_HUMAN
ENSP00000278353
for HSD17B12 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HSD17B12
| 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 | -- |
No data available for SIGNOR curated interactions for HSD17B12 Gene
Drugs & Compounds for HSD17B12 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 11beta,17beta-Dihydroxy-4-androsten-3-one |
|
|
||||
| 11b-Hydroxyandrost-4-ene-3,17-dione |
|
382-44-5 |
|
|||
| 16b-Hydroxyestrone |
|
966-06-3 |
|
|||
| 3-hydroxyoctadecanoyl-CoA |
|
42578-91-6 |
|
|||
| 3-Oxohexadecanoyl-CoA |
|
34619-89-1 |
|
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 :
-
- ENST00000278353 2396 nts (view in UCSC)
- ENST00000395700 994 nts (view in UCSC)
- ENST00000525736 4292 nts (view in UCSC)
- ENST00000527213 571 nts (view in UCSC)
- ENST00000527433 559 nts (view in UCSC)
CRISPR Products
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HSD17B12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B12
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B12
miRNA Products
Inhibitory RNA Products
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- Browse OriGene Inhibitory RNA Products For HSD17B12
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Clone Products
- Applied Biological Materials (abm): Clones for HSD17B12 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for HSD17B12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B12
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
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| SP5: |
Relevant External Links for HSD17B12 Gene
- GeneLoc Exon Structure for
- HSD17B12
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B12
SOURCE GeneReport for Unigene cluster for HSD17B12 Gene:
Hs.132513mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for HSD17B12
-
OriGene qPCR primer pairs and template standards for HSD17B12
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B12 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HSD17B12 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HSD17B12 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hsd17b12 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hsd17b12 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HSD17B12 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B12 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HSD17B12 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd17b12 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | let-767co-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hsd17b12b 30 31 |
|
OneToMany | |
| hsd17b12a 31 |
|
OneToMany | |||
| -- 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9473 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004532 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1444 30 31 32 |
|
OneToOne | |
| CG13284 32 |
|
|
|||
| CG6012 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | let-767 30 |
|
||
| F25G6.5 32 |
|
|
|||
| C06B3.4 32 |
|
|
|||
| C06B3.5 32 |
|
|
|||
| F11A5.12 32 |
|
|
|||
| daz-1 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IFA38 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B09812g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR059C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | KCR1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0483500 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC4G9.15 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU11297 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B12 Gene
Disorders for HSD17B12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| qualitative platelet defect |
|
|
| spinocerebellar ataxia 34 |
|
|
| polycystic kidney disease 1 with or without polycystic liver disease |
|
|
| central hypoventilation syndrome, congenital |
|
|
| neuroblastoma |
|
|
Search HSD17B12 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B12 Gene
Publications for HSD17B12 Gene
- 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
- 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
- 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
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
- 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
ExternalLinks
Products for HSD17B12 Gene
- Custom Antibody ServicesOriGene Antibodies for HSD17B12
- Browse OriGene ELISA Kits
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- OriGene qPCR primer pairs and template standards for HSD17B12
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- Browse OriGene miRNA Products For HSD17B12
- Sino Biological Human cDNA Clone for HSD17B12
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for HSD17B12
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- Taconic Biosciences Mouse Models for HSD17B12
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for HSD17B12 (AFLGC-HSD17B12)
- VectorBuilder Custom and pre-made DNA vectors for HSD17B12 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HSD17B12 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HSD17B12 (ie. knockout, knockin, CRISPRa, CRISPRi)
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- VectorBuilder Stable cell line generation for HSD17B12
- antibodies-online: Show 19 available HSD17B12 Antibodies ranked by validation data
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- antibodies-online: Search results for available HSD17B12 related products ranked by validation data
- antibodies-online: Show 10 available HSD17B12 Proteins ranked by validation data
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- Horizon Cell Lines for HSD17B12
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B12
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- Boster Bio Antibodies for HSD17B12
- Browse Boster Bio ELISA Kits
- Signalway Proteins for HSD17B12
Sources for HSD17B12 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
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- (15) ProtoNet
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- (30) HomoloGene
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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