Summary of CNNM2
This gene encodes a protein that is a metal cation transporter (R).
The Function of CNNM2
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+).
Protein names
Recommended name:
Metal transporter CNNM2Alternative name(s):
Ancient conserved domain-containing protein 2Cyclin-M2
- RS10883817 (CNNM2) ??
- RS11191548 (CNNM2) ??
- RS12413409 (CNNM2) ??
- RS1890185 (CNNM2) ??
- RS4919694 (CNNM2) ??
- RS55833108 (CNNM2) ??
- RS7897654 (CNNM2) ??
- RS7914558 (CNNM2) ??
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Top Gene-Substance Interactions
CNNM2 Interacts with These Diseases
| Disease | Score |
Substances That Increase CNNM2
| Substances | Interaction | Organism | Category |
Substances That Decrease CNNM2
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Hypomagnesemia 6, renalHypomagnesemia, seizures, and mental retardationFrom UniProt: Hypomagnesemia 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. [MIM:613882] Hypomagnesemia, seizures, and mental retardation (HOMGSMR): A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. [MIM:616418]
From NCBI Gene: 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] From UniProt: 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+).
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
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.