H19

ncRNA

H19 imprinted maternally expressed transcript, the group of MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols

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]

MANE transcript

N/A

Inheritance

AD, AD (with imprinting)

ClinVar variants

—

Top phenotype

Wilms tumor 2; Beckwith-Wiedemann syndrome

Max pathogenic AF

—

Genomic locus

chr11:1,995,165-2,004,552

External References & Databases

Ensembl (ENSG00000130600)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Beckwith-Wiedemann syndromeSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0007534

Submitter: Labcorp Genetics (formerly Invitae)

Beckwith-Wiedemann syndromeLIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0007534

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Wilms tumor 2; Beckwith-Wiedemann syndromeAD (with imprinting)

Manifestation: Craniofacial; Endocrine; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Oncologic; Renal

Intervention: Endocrine; Oncologic

Rationale: Surveillance for and early diagnosis of Wilms tumor could be beneficial in order to allow early treatment, which could benefit related morbidity and mortality; Recognition and surveillance for and treatment of neonatal hypoglycemia can be beneficial

Comments: The causes involve imprinting effects

Refs: 15314640; 15743916; 18836444

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to H19 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

H19 action Rb-E2F1 signaling and CDK-β-catenin activity

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.231