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Gene : CCDC22 Homo sapiens

Name  ? coiled-coil domain containing 22 Cytological Location  Xp11.23
Brief Description  coiled-coil domain containing 22
Description  This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]
  • synonyms:
  • CXorf37,
  • NM_014008,
  • OTTHUMG00000024141,
  • BC000972,
  • RTSC2,
  • HGNC:28909,
  • JM1,
  • chromosome X open reading frame 37,
  • JM1,
  • uc004dnd.2,
  • CXorf37,
  • CCDC22
  • identifiers:
  • 28952,
  • ENSG00000101997,
  • CCDC22

Genome feature

Region: gene ? Length: 15057  
Location: X:49235470-49250526 Cyto location: Xp11.23


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

373 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results