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

2014-11-01  

Identity

HGNC
CNNM2
LOCATION
10q24.32
LOCUSID
54805
ALIAS
ACDP2,HOMG6,HOMGSMR
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
377151072024Decreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia.0
385195292024Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.0
377151072024Decreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia.0
385195292024Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.0
336000432021The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).14
336000432021The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).14
329977132020Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.8
329977132020Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.8
301809642018Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.1
303411742018The cyclic nucleotide-binding homology domain of the integral membrane protein CNNM mediates dimerization and is required for Mg(2+) efflux activity.25
301809642018Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.1
303411742018The cyclic nucleotide-binding homology domain of the integral membrane protein CNNM mediates dimerization and is required for Mg(2+) efflux activity.25
270045902016Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.31
270684032016Human CNNM2 is not a Mg(2+) transporter per se.23
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.28

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/teaching-explorer/gene-fusions-explorer/js/lib/gene-explorer/