CNNM4 Chromosome 2
Cyclin and CBS domain divalent metal cation transport mediator 4
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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 a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 70, cyclin and CBS domain divalent metal cation transport mediators"
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000158158
Associated Conditions (6)
Jalili syndrome
Inborn genetic diseases
CNNM4-related disorder
Sarcoma
Malignant tumor of esophagus
Retinal dystrophy
Key Variants
RS138445233
Conflicting classifications of pathogenicity
Jalili syndrome, Jalili syndrome
Health Risk
RS140192152
Conflicting classifications of pathogenicity
Jalili syndrome, Inborn genetic diseases, CNNM4-related disorder
Health Risk
RS144915228
Conflicting classifications of pathogenicity
Jalili syndrome, Jalili syndrome
Health Risk
RS149656750
Conflicting classifications of pathogenicity
Jalili syndrome, Jalili syndrome
Health Risk
RS1553474576
Conflicting classifications of pathogenicity
Health Risk
RS200000984
Conflicting classifications of pathogenicity
Jalili syndrome, Jalili syndrome
Health Risk
RS200110847
Conflicting classifications of pathogenicity
Jalili syndrome, CNNM4-related disorder, Jalili syndrome
Health Risk
RS2078758552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35633391
Conflicting classifications of pathogenicity
Jalili syndrome, CNNM4-related disorder, Sarcoma
Health Risk
RS373657140
Conflicting classifications of pathogenicity
Health Risk
RS374698559
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS545205153
Conflicting classifications of pathogenicity
Jalili syndrome, Jalili syndrome
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761062776 | Health Risk | Pathogenic | — |
| RS776159012 | Health Risk | Pathogenic | Jalili syndrome, Jalili syndrome |
| RS778099516 | Health Risk | Pathogenic | — |
| RS79424354 | Health Risk | Pathogenic | Jalili syndrome, Jalili syndrome |
| RS80100937 | Health Risk | Pathogenic | Jalili syndrome, Retinal dystrophy, Jalili syndrome |
| RS879255500 | Health Risk | Pathogenic | Jalili syndrome, Jalili syndrome |
| RS75267011 | Health Risk | Pathogenic/Likely pathogenic | Jalili syndrome, Jalili syndrome |
| RS75559353 | Health Risk | Pathogenic/Likely pathogenic | Jalili syndrome, Jalili syndrome |