Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 283120
Gene Summary                KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol H19   Gene   UCSC   Ensembl
Aliases ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2
Gene name H19, imprinted maternally expressed transcript (non-protein coding)
Alternate names H19, imprinted maternally expressed untranslated mRNA, long intergenic non-protein coding RNA 8,
Gene location 11p15.5 (2001465: 1995175)     Exons: 6     NC_000011.10
Gene summary(Entrez) 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]
OMIM 103280

Diseases

Associated diseases References
Asthenozoospermia PMID: 23862228
Azoospermia PMID: 21389080
Beckwith-wiedemann syndrome KEGG: H00713, OMIM: 103280
Cancer PMID: 19843670
Defective human spermatozoa PMID: 26804237
Endometriosis PMID: 26089099
Idiopathic male infertility PMID: 19878521
Idiopathic recurrent pregnancy loss PMID: 22959455
Male infertility PMID: 19880108
Oligozoospermia PMID: 19880108
Preeclampsia PMID: 19342096
Pregnancy loss PMID: 18573128
Endometriosis INFBASE26089099
Russell-Silver syndrome OMIM: 103280, KEGG: H00711
Spermatogenetic defects PMID: 23975186
Unexplained infertility PMID: 20042264
Wilms tumor OMIM: 103280

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26089099 Endometrio
sis



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