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Gene : CNNM4 Homo sapiens

Name  ? cyclin and CBS domain divalent metal cation transport mediator 4 Cytological Location  2q11.2
Brief Description  cyclin and CBS domain divalent metal cation transport mediator 4
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 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]
  • synonyms:
  • ACDP4,
  • OTTHUMG00000130532,
  • cyclin M4,
  • HGNC:105,
  • ACDP4,
  • uc002swx.3,
  • NM_020184,
  • AB046812,
  • CNNM4,
  • KIAA1592
  • identifiers:
  • 26504,
  • ENSG00000158158,
  • CNNM4

Genome feature

Region: gene ? Length: 50987  
Location: 2:96760902-96811888 Cyto location: 2q11.2


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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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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

756 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results