H19 (H19 imprinted maternally expressed transcript)

Gene
Gene miRNA Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283120
Gene name Gene Name - the full gene name approved by the HGNC.
H19 imprinted maternally expressed transcript
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
H19
Synonyms (NCBI Gene) Gene synonyms aliases
ASM, ASM1, BWS, D11S813E, GMRSP, LINC00008, MIR675HG, NCRNA00008, WT2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Other IDs Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT732972 hsa-miR-130a-3p Flow cytometry, Immunohistochemistry (IHC), Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting 33324070
MIRT732972 hsa-miR-130a-3p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Flow cytometry 33324070
MIRT737540 hsa-miR-22-3p Luciferase reporter assay, Immunoprecipitaion (IP), qRT-PCR 31755219
Transcription factors
Gene miRNA Transcription factors Other IDs Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
CTCF Unknown 11431321;14654216;16391843;18458536;19209620;19584898;20966046;24725430
DDX5 Unknown 20966046
E2F1 Activation 15985428
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
103280 4713 ENSG00000130600
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Beckwith-Wiedemann Syndrome beckwith-wiedemann syndrome N/A N/A ClinVar
Breast Cancer Breast cancer N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Show/Hide Text Mining Associations (238)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 11813134
Abortion Habitual Associate 23583422, 37699152
Abortion Spontaneous Associate 22959455
Adenocarcinoma Associate 30071841
Adenocarcinoma Follicular Associate 31791180
Adenocarcinoma of Lung Associate 27911863, 30747209, 33799753
Adenomyosis Associate 32921982
Adrenocortical Carcinoma Associate 36169175
Agricultural Workers' Diseases Associate 27626436
Anthracosis Associate 27626436