CNNM2

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 homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Description

Cyclin and CBS domain divalent metal cation transport mediator 2

Tissue specificity

Tissue enhanced (choroid plexus, parathyroid gland)

Subcell location

Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

10 (102918294 - 103090222)

Ensembl ID

ENSG00000148842  (ver. 103.38)

Orthologs

Mouse Cnnm2: ENSMUSG00000064105

UniProt

Q9H8M5

neXtProt

NX_Q9H8M5

Human splice variants
Mouse splice variants

Protein structure