H19 (H19 imprinted maternally expressed transcript)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Other IDs Associated diseases
Entrez ID 283120
Gene name H19 imprinted maternally expressed transcript
Gene symbol H19
Synonyms (NCBI Gene)
ASMASM1BWSD11S813EGMRSPLINC00008MIR675HGNCRNA00008WT2
Chromosome 11
Chromosome location 11p15.5
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.
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Transcription factors Other IDs Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT732972 hsa-miR-130a-3p Flow cytometryImmunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting 33324070
MIRT732972 hsa-miR-130a-3p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)Flow cytometry 33324070
MIRT737540 hsa-miR-22-3p Luciferase reporter assayImmunoprecipitaion (IP)qRT-PCR 31755219
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
103280 4713 ENSG00000130600
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Beckwith-Wiedemann syndrome not provided rs587777745 RCV000190278
H19-related disorder Uncertain significance; Likely benign; Benign rs548453983, rs531579904, rs538661579, rs61520309, rs373019918, rs543862815, rs911309684, rs111265160, rs3741216, rs11564733, rs578029526, rs545220745, rs146878777, rs72556551, rs747425680
View all (11 more)		 RCV003400135
RCV003404492
RCV003921506
RCV003919645
RCV003921920
RCV003981577
RCV003894329
RCV003894389
RCV003984713
RCV003916918
RCV003977052
RCV003911642
RCV003941822
RCV003959542
RCV003972055
RCV003931737
RCV003949266
RCV003951419
RCV003951482
RCV003951496
RCV003944449
RCV003961956
RCV003907382
RCV003954421
RCV003954657
RCV003954802
Show/Hide Text Mining Associations (238)
Associations from Text MiningDisease 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