CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)

2014-11-01  

Identity

HGNC
LOCATION
10q24.32
LOCUSID
ALIAS
ACDP2,HOMG6,HOMGSMR
FUSION GENES

Other Information

Locus ID:

NCBI: 54805
MIM: 607803
HGNC: 103
Ensembl: ENSG00000148842

Variants:

dbSNP: 54805
ClinVar: 54805
TCGA: ENSG00000148842
COSMIC: CNNM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148842ENST00000369875Q9H8M5
ENSG00000148842ENST00000369878Q9H8M5
ENSG00000148842ENST00000433628Q9H8M5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
204791552010Blood pressure and hypertension are associated with 7 loci in the Japanese population.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
213970622011CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.46
246992222014CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.22
274015312016Two-stage replication of previous genome-wide association studies of AS3MT-CNNM2-NT5C2 gene cluster region in a large schizophrenia case-control sample from Han Chinese population.21
223992872012Membrane topology and intracellular processing of cyclin M2 (CNNM2).20
241602912013The impact of the genome-wide supported variant in the cyclin M2 gene on gray matter morphology in schizophrenia.15
251845382014Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.14
270045902016Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.12

Citation

Dessen P

CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61943/cnnm2-(cyclin-and-cbs-domain-divalent-metal-cation-transport-mediator-2)