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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54805
Gene name Cyclin and CBS domain divalent metal cation transport mediator 2
Gene symbol CNNM2
Synonyms (NCBI Gene)
ACDP2HOMG6HOMGSMRSLC70A2
Chromosome 10
Chromosome location 10q24.32
Summary 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.
1
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.
170
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607803 103 ENSG00000148842
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
189
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypomagnesemia Pathogenic rs1845550578 RCV001312193
Hypomagnesemia, seizures, and intellectual disability 1 Likely pathogenic; Pathogenic rs2134338484, rs2134149229, rs2134149603, rs2493375718, rs786205909, rs786205910, rs794726858, rs746369588, rs1845545378, rs1845510486, rs1845544924, rs1845545201, rs1845553116, rs2065263811, rs2065688398 RCV002488234
RCV001842263
RCV002266698
RCV002290139
RCV000172913
RCV000172914
RCV000172915
RCV003327306
RCV003327310
RCV001290324
RCV001290325
RCV001290326
RCV001290327
RCV001290328
RCV001290330
RCV001290332
Moyamoya angiopathy Likely pathogenic rs1845547583 RCV004704483
Renal hypomagnesemia 6 Likely pathogenic; Pathogenic rs2134338484, rs2493375756, rs2493376631, rs2493376669, rs1564873187, rs1564803221, rs387906975 RCV002488234
RCV003327311
RCV003327312
RCV003327313
RCV003327314
RCV000023660
RCV000023661
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNNM2-related disorder Likely benign; Uncertain significance; Benign rs369230465, rs1480720023, rs2493375237, rs117691462, rs373895299, rs75800852, rs2297785, rs74464353, rs2493632587, rs748005897 RCV003973444
RCV003408526
RCV003410874
RCV003930246
RCV003911577
RCV003977855
RCV003977856
RCV003920220
RCV003952304
RCV003969050
CNNM2-related neurodevelopmental disorder and hypomagnesemia Uncertain significance rs2065304496 RCV001270788
Neurodevelopmental abnormality Uncertain significance rs1845549561 RCV001264669
Renal Hypomagnesemia, Dominant Uncertain significance rs886046678 RCV000336930
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease 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