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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54805
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin and CBS domain divalent metal cation transport mediator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNNM2
Synonyms (NCBI Gene) Gene synonyms aliases
ACDP2, HOMG6, HOMGSMR, SLC70A2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 home
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs387906975 C>T Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(170)
miRTarBase ID miRNA Experiments Reference
MIRT022053 hsa-miR-128-3p Microarray 17612493
MIRT022806 hsa-miR-124-3p Microarray 18668037
MIRT027164 hsa-miR-103a-3p Sequencing 20371350
MIRT029773 hsa-miR-26b-5p Microarray 19088304
MIRT031855 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0010960 Process Magnesium ion homeostasis IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607803 103 ENSG00000148842
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H8M5
Protein name Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2)
Protein function Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).
PDB 4IY0 , 4IY2 , 4IY4 , 4IYS , 6DJ3 , 6N7E , 8F6D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01595 DUF21 260 → 431 Cyclin M transmembrane N-terminal domain Domain
PF00571 CBS 514 → 578 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop. {ECO
Sequence 
MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGA
GGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAF
TEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPL
RKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPPPPWAETTWIYHDGED
TKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKN
YAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVP
QAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV
TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTR
IPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKK
GKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHR
ERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQ
ELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTA
SPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDAVTPTLGSSNN
QLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLT
ELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI
Sequence length 875
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypomagnesemia Hypomagnesemia, seizures, and intellectual disability 1 rs786205909, rs786205910, rs794726858 N/A
Renal Hypomagnesemia Renal hypomagnesemia 6 rs1564803221, rs387906975 N/A
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Age of onset of childhood onset asthma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmia Sinus Associate 35170241
Calcium Metabolism Disorders Associate 32997713
Coronary Artery Disease Associate 25740055
Coronary Disease Associate 28843344
Epilepsy Associate 36300369
Heart Defects Congenital Associate 35170241
Intellectual Disability Associate 35170241
Intracranial Aneurysm Associate 30994044
Intracranial Aneurysm Stimulate 36300369
Language Disorders Associate 35170241