rs2890565
This is a protein-altering variant in the UTS2 gene.
▶Research that mentions this SNP (1)
▶Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetesAssociationN=7,667Ke Huang et al.(2014)· Obesity
Whole exome sequencing in 177 Pima Indians identified rs7238987 in CYB5A associated with body fatness (p=7.0×10⁻⁶) and a novel RNF10 variant (R151H) associated with adiposity. Both SNPs and variants increased risk for Type 2 Diabetes (rs7238987: OR=1.13, p=0.01; RNF10: OR=1.49, p=9.5×10⁻³), with effects mediated through body mass index. CYB5A encodes a component of stearoyl-CoA desaturase, while RNF10's role in obesity was supported by knockout mouse data.
About UTS2
This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
View all UTS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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