Gene

CCDC22

Species
Homo sapiens
Symbol
CCDC22
Name
coiled-coil domain containing 22
Synonyms
  • chromosome x open reading frame 37
  • coiled-coil domain-containing protein 22
Biotype
protein coding gene
Automated Description
Enables cullin family protein binding activity. Involved in several processes, including cytoplasmic sequestering of NF-kappaB; regulation of canonical NF-kappaB signal transduction; and vesicle-mediated transport to the plasma membrane. Located in centrosome. Implicated in Ritscher-Schinzel syndrome 2.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15668
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CCDC22 molecule type
          Interactor gene
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            Genetic Interactions

            CCDC22 role
            CCDC22 genetic perturbation
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