CCDC22 Chromosome X
CCC complex scaffolding subunit CCDC22
Upload your DNA to see your personal genotypes for variants in CCDC22.
What This Gene Does
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]
Gene Info
Gene Group
CCC complex
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000101997
Associated Conditions (5)
Ritscher-Schinzel syndrome 2
CCDC22-related disorder
Intellectual disability
Gastric cancer
Ritscher-Schinzel syndrome 1
Key Variants
RS1368764108
Conflicting classifications of pathogenicity
Health Risk
RS138329959
Conflicting classifications of pathogenicity
Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2
Health Risk
RS140735182
Conflicting classifications of pathogenicity
Health Risk
RS143790434
Conflicting classifications of pathogenicity
CCDC22-related disorder, Intellectual disability, CCDC22-related disorder
Health Risk
RS145220151
Conflicting classifications of pathogenicity
Gastric cancer, Gastric cancer
Health Risk
RS147674513
Conflicting classifications of pathogenicity
Health Risk
RS183877705
Conflicting classifications of pathogenicity
Health Risk
RS189346095
Conflicting classifications of pathogenicity
Health Risk
RS199995957
Conflicting classifications of pathogenicity
Health Risk
RS201088755
Conflicting classifications of pathogenicity
Health Risk
RS2147938135
Conflicting classifications of pathogenicity
Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2
Health Risk
RS372144369
Conflicting classifications of pathogenicity
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1368764108 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138329959 | Health Risk | Conflicting classifications of pathogenicity | Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2 |
| RS140735182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143790434 | Health Risk | Conflicting classifications of pathogenicity | CCDC22-related disorder, Intellectual disability, CCDC22-related disorder |
| RS145220151 | Health Risk | Conflicting classifications of pathogenicity | Gastric cancer, Gastric cancer |
| RS147674513 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS183877705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189346095 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199995957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201088755 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147938135 | Health Risk | Conflicting classifications of pathogenicity | Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2 |
| RS372144369 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781992822 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782660215 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863225428 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 2 |
| RS863225429 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 2 |