Property Summary

NCBI Gene PubMed Count 32
PubMed Score 15.31
PubTator Score 19.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -1.576 0.000
atypical teratoid / rhabdoid tumor 1.200 0.000
medulloblastoma, large-cell 1.200 0.000
tuberculosis and treatment for 6 months 1.500 0.000
ulcerative colitis -3.100 0.000
group 3 medulloblastoma -1.200 0.002
lung carcinoma 1.300 0.000

Synonym

Accession Q9H8M5 Q5T569 Q5T570 Q8WU59 Q9H952 Q9NRK5 Q9NXT4
Symbols ACDP2
HOMG6
HOMGSMR

Gene

PDB

4IY0   4IY2   4IY4   4IYS  

 MGI Term (1)

Pathway (1)

Gene RIF (12)

PMID Text
25184538 The T568I mutation causes the magnesium transporter, CNNM2, to become 'locked' in its flat form.
25053769 meta-analysis of two Caucasian cohorts did not show an association between five aneurysm associated loci and sporadic brain Arteriovenous malformations.
24699222 Cells expressing mutated CNNM2 proteins did not show increased Mg(2+) uptake.
24311551 This CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition.
24160291 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.
23027747 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
22399287 analysis of structure of CNNM2 and its post-translational modifications
21397062 The CNNM2 locus is associated with serum Mg(2+) concentrations.
20519162 ACDP2 splice-variant 1 is a functional Mg2+-transporting entity per se.
20479155 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGAGGCAAVGENE      1 - 70
ETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAFTEHERRRHSPGERGLGGPAP     71 - 140
PEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPLRKMEKSKSYYLCTSLSTPALGAGGSGSTGG    141 - 210
AVGGKGGSGVAGLPPPPWAETTWIYHDGEDTKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLM    211 - 280
ALDPMELRIVQNCGTEKEKNYAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTI    281 - 350
GIVIFGEIVPQAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV    351 - 420
TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTRIPVFEGERSN    421 - 490
IVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKKGKSHLAIVQRVNNEGEGDPF    491 - 560
YEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHRERKQDFSAFKQTDSEMKVKISPQLLLAMHR    561 - 630
FLATEVEAFSPSQMSEKILLRLLKHPNVIQELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGK    631 - 700
EGMKFEASAFSYYGVMALTASPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDA    701 - 770
VTPTLGSSNNQLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLT    771 - 840
ELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI                                       841 - 875
//

Text Mined References (35)

PMID Year Title
25184538 2014 Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
25053769 2015 Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.
24699222 2014 CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
24311551 2014 Effects of a novel schizophrenia risk variant rs7914558 at CNNM2 on brain structure and attributional style.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
24160291 2013 The impact of the genome-wide supported variant in the cyclin M2 gene on gray matter morphology in schizophrenia.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23894747 2013 A comprehensive family-based replication study of schizophrenia genes.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
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