H19 H19 imprinted maternally expressed transcript
Gene ID: 283120, updated on 6-Nov-2024Gene type: ncRNA
Also known as: ASM; BWS; WT2; ASM1; D11S813E; MIR675HG; LINC00008; NCRNA00008
- See all available tests in GTR for this gene
- Go to complete Gene record for H19
- Go to Variation Viewer for H19 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. GeneReviews: Not available | |
| Wilms tumor 1 MedGen: CN033288OMIM: 194070GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (1995176..2001266, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for H19 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- H19 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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