Homo sapiens Protein: CNNM2
Summary
InnateDB Protein IDBP-88293.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNNM2
Protein Name cyclin M2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358894
InnateDB Gene IDBG-88291 (CNNM2)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations Hypomagnesemia 6 (HOMG6) [MIM:613882]: 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. {ECO:0000269PubMed:21397062}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269PubMed:21397062}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0030554 adenyl nucleotide binding
Biological Process
GO:0010960 magnesium ion homeostasis
GO:0015693 magnesium ion transport
Cellular Component
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR002550 Domain of unknown function DUF21
IPR018490 Cyclic nucleotide-binding-like
PFAM PF01595
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H8M5
PhosphoSite PhosphoSite-Q9H8M5
TrEMBL
UniProt Splice Variant
Entrez Gene 54805
UniGene Hs.743405
RefSeq NP_060119
HUGO HGNC:103
OMIM 607803
CCDS CCDS44474
HPRD 07418
IMGT
EMBL AF216962 AK000071 AK023066 AK023479 AL139817 AL356608 BC021222
GenPept AAF86374 AAH21222 BAA90926 BAB14386 BAB14585 CAI16511 CAI16512 CAI16513 CAI40076 CAI40077