Entry Detail



General Information

Database ID:LDA0007479
Species:Homo sapiens
Confidence Score:0.6478
Contents:>> ncRNA Information
>> Regulatory Relationship
>> Disease Information
>> Evidence Support
>> Reference

 

ncRNA Information

ncRNA Symbol:H19
Full Name:H19, imprinted maternally expressed transcript (non-protein coding)
Category:lncRNA
Species:Homo sapiens
Synonyms:D11S813E//ASM//ASM1//NCRNA00008//LINC00008
Chromosome:11
Strand:-
Coordinate:
Start Site(bp):1995163End Site(bp):2001470
Gene Summary:This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
External Links:
Ensembl ID:ENSG00000130600
HGNC ID:HGNC:4713
Entrez Gene:283120
VEGA ID:OTTHUMG00000012477
UCSC ID:uc057xvv.1
ENA:AF087017
RefSeq Accession:NR_002196
UniProtKB:N/A

 

Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
TNNT3
11
1919562
1938706
+
MRPL23
11
1947278
1984522
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
MIR675
11
1996759
1996831
-
Display:

 

Disease Information

 Disease OntologyMeSH
Disease ID:DOID:3393D003324
Disease Name:coronary artery diseaseCoronary Artery Disease
Category:Disease OntologyMeSH
Type:disease of anatomical entityCardiovascular Diseases
Define:An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.
Alias:CHD (coronary heart disease)//coronary arteriosclerosis//Coronary disease//coronary heart diseaseArtery Disease, Coronary//Artery Diseases, Coronary//Coronary Artery Diseases//Disease, Coronary Artery//Diseases, Coronary Artery//Coronary Arteriosclerosis//Arterioscleroses, Coronary//Coronary Arterioscleroses//Atherosclerosis, Coronary//Atheroscleroses, Coronary//Coronary Atheroscleroses//Coronary Atherosclerosis//Arteriosclerosis, Coronary

 

Evidence Support

Strong Evidence:N/A
Weak Evidence:Genotyping
Prediction Method:LRLSLDA-LNCSIM1//LRLSLDA-LNCSIM2

 

Reference

[1] PubMed ID:25772106
Disease Name:coronary artery disease
Sample:N/A
Dysfunction Pattern:N/A
Validated Method:Genotyping
Description:Re-expression of H19 has been observed in patients with atherosclerosis. Common polymorphisms of H19 are associated with the risk and severity of CAD in a Chinese population.
Author:Gao W,Zhu M,Wang H,Zhao S,Zhao D,Yang Y,Wang ZM,Wang F,Yang ZJ,Lu X,Wang LS
Year:2015
Title:Association of polymorphisms in long non-coding RNA H19 with coronary artery disease risk in a Chinese population.
Causality:No

[2] PubMed ID:25772106
Disease Name:coronary artery disease
Sample:blood
Dysfunction Pattern:N/A
Validated Method:Genotyping
Description:The A variant of H19 SNP rs2067051 was associated with a decreased risk of CAD.
Author:Gao W,Zhu M,Wang H,Zhao S,Zhao D,Yang Y,Wang ZM,Wang F,Yang ZJ,Lu X,Wang LS
Year:2015
Title:Association of polymorphisms in long non-coding RNA H19 with coronary artery disease risk in a Chinese population.
Causality:No

[3] PubMed ID:25772106
Disease Name:coronary artery disease
Sample:blood
Dysfunction Pattern:N/A
Validated Method:Genotyping
Description:The T variant of H19 SNP rs217727 was associated with an increased risk of CAD.
Author:Gao W,Zhu M,Wang H,Zhao S,Zhao D,Yang Y,Wang ZM,Wang F,Yang ZJ,Lu X,Wang LS
Year:2015
Title:Association of polymorphisms in long non-coding RNA H19 with coronary artery disease risk in a Chinese population.
Causality:No