Entity Details

Primary name CNNM2
Entity type gene
Source Source Link

Details

PrimaryID54805
RefseqGeneNG_031932
SymbolCNNM2
Namecyclin and CBS domain divalent metal cation transport mediator 2
Chromosome10
Location10q24.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCNNM2_HUMAN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0010960 magnesium ion homeostasis
GO:0015095 magnesium ion transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0022857 transmembrane transporter activity
GO:0043231 intracellular membrane-bounded organelle

Diseases

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Disease IDSourceNameDescription
616418 OMIMHypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1)A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry.
613882 OMIMHypomagnesemia 6 (HOMG6)A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions