Entity Details

Primary name CNNM2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H8M5
EntryNameCNNM2_HUMAN
FullNameMetal transporter CNNM2
TaxID9606
Evidenceevidence at protein level
Length875
SequenceStatuscomplete
DateCreated2007-07-24
DateModified2021-06-02

Ontological Relatives

GenesCNNM2

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

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000644 CBS domainDomainDomain
IPR002550 CNNM, transmembrane domainDomainDomain

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.

Drugs

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DrugNameSourceType
DB09481 Magnesium carbonateDrugbanksmall molecule

Interactions

0 interactions

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