Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51144
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxysteroid 17-beta dehydrogenase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSD17B12
Synonyms (NCBI Gene) Gene synonyms aliases
KAR, SDR12C1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IEA
GO:0004303 Function Estradiol 17-beta-dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 20937905, 24169621, 25416956, 32296183, 32814053
GO:0005518 Function Collagen binding IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609574 18646 ENSG00000149084
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28566273
Neuroblastoma Neuroblastoma rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544 22941191
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Coronary artery disease Coronary artery disease GWAS
Hypertension Hypertension GWAS
Hyperopia Hyperopia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 35404482
Breast Neoplasms Associate 31302749, 31671023
Carcinoma Ductal Breast Associate 22903146
Colorectal Neoplasms Stimulate 33118286, 35779418
Colorectal Neoplasms Associate 33118286
Death Associate 33118286
Diabetes Mellitus Associate 35320353
Diabetes Mellitus Type 2 Stimulate 32340285
Diabetes Mellitus Type 2 Associate 40596821
Head and Neck Neoplasms Associate 35404482