CNNM2 Chromosome 10

Cyclin and CBS domain divalent metal cation transport mediator 2

39 variants 39 Health Risk

Upload your DNA to see your personal genotypes for variants in CNNM2.

What This Gene Does

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]

Gene Info

Gene Group

Solute carrier family 70, cyclin and CBS domain divalent metal cation transport mediators

Locus Type

gene with protein product

Location

10q24.32

Ensembl

ENSG00000148842

Associated Conditions (7)

Renal hypomagnesemia 6

Inborn genetic diseases

Hypomagnesemia

seizures

and intellectual disability 1

Moyamoya angiopathy

See cases

Key Variants

RS1021927212

Conflicting classifications of pathogenicity

Renal hypomagnesemia 6, Renal hypomagnesemia 6

Health Risk

RS189582508

Conflicting classifications of pathogenicity

Renal hypomagnesemia 6, Renal hypomagnesemia 6

Health Risk

RS199849767

Conflicting classifications of pathogenicity

Health Risk

RS367789750

Conflicting classifications of pathogenicity

Renal hypomagnesemia 6, Renal hypomagnesemia 6

Health Risk

RS370749106

Conflicting classifications of pathogenicity

Renal hypomagnesemia 6, Renal hypomagnesemia 6

Health Risk

RS371028392

Conflicting classifications of pathogenicity

Inborn genetic diseases, Renal hypomagnesemia 6, Hypomagnesemia

Health Risk

RS546554240

Conflicting classifications of pathogenicity

Health Risk

RS750190975

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS775113694

Conflicting classifications of pathogenicity

Renal hypomagnesemia 6, Renal hypomagnesemia 6

Health Risk

RS777820126

Conflicting classifications of pathogenicity

Hypomagnesemia, seizures, and intellectual disability 1

Health Risk

RS984170802

Conflicting classifications of pathogenicity

Health Risk

RS988049940

Conflicting classifications of pathogenicity

Hypomagnesemia, seizures, and intellectual disability 1

Health Risk

All Variants (39)

RSID	Category	Clinical Significance	Conditions
RS1021927212	Health Risk	Conflicting classifications of pathogenicity	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS189582508	Health Risk	Conflicting classifications of pathogenicity	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS199849767	Health Risk	Conflicting classifications of pathogenicity	—
RS367789750	Health Risk	Conflicting classifications of pathogenicity	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS370749106	Health Risk	Conflicting classifications of pathogenicity	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS371028392	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Renal hypomagnesemia 6, Hypomagnesemia
RS546554240	Health Risk	Conflicting classifications of pathogenicity	—
RS750190975	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS775113694	Health Risk	Conflicting classifications of pathogenicity	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS777820126	Health Risk	Conflicting classifications of pathogenicity	Hypomagnesemia, seizures, and intellectual disability 1
RS984170802	Health Risk	Conflicting classifications of pathogenicity	—
RS988049940	Health Risk	Conflicting classifications of pathogenicity	Hypomagnesemia, seizures, and intellectual disability 1
RS1590243044	Health Risk	Likely pathogenic	—
RS1845547583	Health Risk	Likely pathogenic	Moyamoya angiopathy, Moyamoya angiopathy
RS2065688398	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2134149229	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2134149603	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2134338484	Health Risk	Likely pathogenic	See cases, Renal hypomagnesemia 6, Hypomagnesemia
RS2493375701	Health Risk	Likely pathogenic	—
RS2493375718	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2493375756	Health Risk	Likely pathogenic	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS1564803221	Health Risk	Pathogenic	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS1564873187	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS1845510486	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS1845544924	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS1845545201	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS1845545378	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS1845550578	Health Risk	Pathogenic	Hypomagnesemia, Hypomagnesemia
RS1845553116	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2065263811	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS2493376631	Health Risk	Pathogenic	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS2493376669	Health Risk	Pathogenic	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS2493377590	Health Risk	Pathogenic	—
RS387906975	Health Risk	Pathogenic	Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS746369588	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS762143326	Health Risk	Pathogenic	—
RS786205909	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS786205910	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 1
RS794726858	Health Risk	Pathogenic/Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 1