CCDC22 coiled-coil domain containing 22
Gene ID: 28952, updated on 7-Apr-2024Gene type: protein coding
Also known as: JM1; RTSC2; CXorf37
- See all available tests in GTR for this gene
- Go to complete Gene record for CCDC22
- Go to Variation Viewer for CCDC22 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ritscher-Schinzel syndrome 2 | See labs |
Genomic context
- Location:
- Xp11.23
- Sequence:
- Chromosome: X; NC_000023.11 (49235470..49250520)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCDC22 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCDC22 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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