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CNNM2

Synonyms
ACDP2, HOMG6, HOMGSMR
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,255
Likely benign
3,001
Benign
39

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on CNNM2 gene.

Phenotype class
Patients in 3billion (%)

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