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Gene : CNNM2 Homo sapiens

Name  ? cyclin and CBS domain divalent metal cation transport mediator 2 Cytological Location  10q24.32
Brief Description  cyclin and CBS domain divalent metal cation transport mediator 2
Description  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]
  • synonyms:
  • HOMGSMR,
  • ACDP2,
  • ACDP2,
  • NM_017649,
  • OTTHUMG00000018976,
  • cyclin M2,
  • AF216962,
  • HOMG6,
  • uc001kwm.4,
  • HGNC:103,
  • CNNM2
  • identifiers:
  • 54805,
  • ENSG00000148842,
  • CNNM2

Genome feature

Region: gene ? Length: 171930  
Location: 10:102918293-103090222 Cyto location: 10q24.32


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results