Gene Gene information from NCBI Gene database.
Entrez ID 51144
Gene name Hydroxysteroid 17-beta dehydrogenase 12
Gene symbol HSD17B12
Synonyms (NCBI Gene)
KARSDR12C1
Chromosome 11
Chromosome location 11p11.2
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]
miRNA miRNA information provided by mirtarbase database.
524
miRTarBase ID miRNA Experiments Reference
MIRT001545 hsa-miR-155-5p pSILAC 18668040
MIRT001545 hsa-miR-155-5p Proteomics;Other 18668040
MIRT045813 hsa-miR-191-5p CLASH 23622248
MIRT037759 hsa-miR-874-3p CLASH 23622248
MIRT664600 hsa-miR-508-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IEA
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0005515 Function Protein binding IPI 20937905, 24169621, 25416956, 32296183, 32814053, 35384245
GO:0005518 Function Collagen binding IEA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609574 18646 ENSG00000149084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53GQ0
Protein name Very-long-chain 3-oxoacyl-CoA reductase (EC 1.1.1.330) (17-beta-hydroxysteroid dehydrogenase 12) (17-beta-HSD 12) (3-ketoacyl-CoA reductase) (KAR) (Estradiol 17-beta-dehydrogenase 12) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 12C member 1)
Protein 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 cy
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 51 248 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:16113833, ECO:0000269|PubMed:16166196}.
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Steroid hormone biosynthesis
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  Androgen biosynthesis
Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 31844109 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 31844109 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21409596
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31302749, 31671023 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21409596
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 22903146 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 22903146, 29324448
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33118286, 35779418 Stimulate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33118286 Associate
★☆☆☆☆
Found in Text Mining only