Entry Detail



General Information

Database ID:LDA0007223
Species:Homo sapiens
Confidence Score:0.7802
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:3948D018268
Disease Name:adrenocortical carcinomaAdrenocortical Carcinoma
Category:Disease OntologyMeSH
Type:disease of cellular proliferationNeoplasms//Endocrine System Diseases
Define:An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Alias:Adrenal cortical carcinoma (morphologic abnormality)//carcinoma of the Adrenal cortexAdrenocortical Carcinomas//Carcinomas, Adrenocortical//Carcinoma, Adrenocortical//Carcinoma, Adrenal Cortical//Adrenal Cortical Carcinoma//Adrenal Cortical Carcinomas//Carcinomas, Adrenal Cortical

 

Evidence Support

Strong Evidence:Northern blot
Weak Evidence:N/A
Prediction Method:RWRlncD

 

Reference

[1] PubMed ID:22019903
Disease Name:adrenocortical carcinoma
Sample:N/A
Dysfunction Pattern:Epigenetics
Validated Method:Northern blot
Description:This disease has been associated with structural abnormalities at the 11p15 locus,which harbors the IGF2 gene as well as the genes coding for insulin,H19,and p57kip2.
Author:Ribeiro TC,Latronico AC
Year:2012
Title:Insulin-like growth factor system on adrenocortical tumorigenesis.
Causality:No