CNOT9 Chromosome 2
CCR4-NOT transcription complex subunit 9
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What This Gene Does
This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
"CCR4-NOT transcription complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000144580
Associated Conditions (2)
CNOT9-associated neurodevelopmental disorder
See cases
Key Variants
RS2469453674
Likely pathogenic
CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
Health Risk
RS267599211
Likely pathogenic
CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
Health Risk
RS981210817
Pathogenic
CNOT9-associated neurodevelopmental disorder, See cases, CNOT9-associated neurodevelopmental disorder
Health Risk
RS2469475477
Pathogenic/Likely pathogenic
CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469453674 | Health Risk | Likely pathogenic | CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder |
| RS267599211 | Health Risk | Likely pathogenic | CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder |
| RS981210817 | Health Risk | Pathogenic | CNOT9-associated neurodevelopmental disorder, See cases, CNOT9-associated neurodevelopmental disorder |
| RS2469475477 | Health Risk | Pathogenic/Likely pathogenic | CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder |