rs2051090

This is a intron variant variant in the DCLK1 gene.

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Research that mentions this SNP (1)

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Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan
AssociationN=3,518Takuya Kitamoto et al.(2013)· Human Genetics

Genome-wide association study in Japanese population identified nine SNPs in PNPLA3 (rs738409, rs2896019, rs3810622), SAMM50 (rs738491, rs3761472, rs2143571, rs6006473), and PARVB (rs5764455, rs6006611) genes strongly associated with nonalcoholic fatty liver disease (NAFLD) development and progression. rs738409 showed the strongest association (P = 6.8×10⁻¹⁴, OR = 2.05); other SNPs had P < 2.0×10⁻¹⁰ and ORs of 1.84–2.02. These variants were associated with decreased serum triglycerides, increased liver enzymes (AST/ALT), and histological features including steatosis grade and fibrosis.

Traits studied:Alanine aminotransferase (ALT)Aspartate aminotransferase (AST)Hepatocyte ballooningLiver fibrosisLiver steatosisLobular inflammationNAFLD activity score (NAS)Nonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)Serum triglycerides
PubMedDOIMetascience Observatory

About DCLK1

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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