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CNNM2 encodes a member of the ancient conserved domain containing protein family.
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In this large-scale, Han Chinese population-based genetic association study for genetic susceptibility to schizophrenia of a three-gene cluster region, AS3MT (show AS3MT Antibodies)-CNNM2-NT5C2 (show NT5C2 Antibodies), two SNPs with independent effects, rs11191419 and rs11191514, were identified. Rs11191419 is located on the 5' (potential promoter) region of AS3MT (show AS3MT Antibodies), while rs11191514 is located in one of the introns of CNNM2.
this study implicates altered neural expression of BORCS7, AS3MT (show AS3MT Antibodies), and NT5C2 (show NT5C2 Antibodies) in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus
Sensitivity of CNNM2 expression to extracellular Mg(2 (show MUC7 Antibodies)+) depletion depends on cell type.
The T568I mutation causes the magnesium transporter, CNNM2, to become 'locked' in its flat form.
Cells expressing mutated CNNM2 proteins did not show increased Mg(2 (show MUC7 Antibodies)+) uptake.
This CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition.
Our findings suggest that the genetic variant in the CNNM2 gene could be implicated in the pathogenesis of schizophrenia through the gray matter volumetric vulnerability of the orbital regions in the inferior frontal gyri.
crystals of CNNM2 belonged to space groups P2(1)2(1)2 and I222 (or I2(1)2(1)2(1)) and diffracted X-rays to 2.0 and 3.6 A resolution, respectively, using synchrotron radiation
analysis of structure of CNNM2 and its post-translational modifications
ACDP2 splice-variant 1 is a functional Mg2 (show MUC7 Antibodies)+-transporting entity per se.
we generated kidney-specific Cnnm2- deficient mice and clearly demonstrated that the CNNM2 function in the kidney is important in maintaining not only magnesium homeostasis but also blood pressure.
data shed new light on the structural basis underlying the interaction between PRL (show PRL Antibodies) phosphatases and CNNM transporters and provides a hypothesis about the molecular mechanism by which PRL-1 (show PTP4A1 Antibodies), upon binding to CNNM2, might increase the intracellular concentration of Mg(2 (show MCOLN1 Antibodies)+) thereby contributing to tumor progression and metastasis.
Thus, sperm motility and Ca(2 (show CA2 Antibodies)+) response were more severely affected in sperm from Cnnm2(+/Delta); Cnnm4 (show CNNM4 Antibodies)(Delta/Delta) mice than in those from Cnnm4 (show CNNM4 Antibodies)(Delta/Delta) mice, implicating CNNM2 in regulating these processes.
ACDP2 may provide a regulated transporter for Mg2 (show MCOLN1 Antibodies)+ and other divalent cations in epithelial ce
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
, metal transporter CNNM4
, ancient conserved domain-containing protein 4
, ancient conserved domain-containing protein 2
, metal transporter CNNM2
, ancient conserved domain protein 2
, cyclin-like protein 2