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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CNOT2
CCR4-NOT transcription complex subunit 2
Chromosome 12 Β· 12q15
NCBI Gene: 4848Ensembl: ENSG00000111596.14HGNC: HGNC:7878UniProt: B2RDX7
93PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
poly(A)-specific ribonuclease activitytranscription corepressor bindingprotein bindingnegative regulation of transcription by RNA polymerase IIintellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesgenetic disorderneurodegenerative diseaseADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
✦AI Summary

CNOT2 is an essential structural component of the CCR4-NOT complex, a major cellular mRNA deadenylase that regulates multiple aspects of gene expression 1. The protein is required for maintaining the structural integrity and deadenylase activity of the CCR4-NOT complex, as CNOT2 depletion destabilizes the complex and reduces its enzymatic activity 1. CNOT2 plays crucial roles in embryonic stem cell maintenance by repressing early trophectoderm transcription factors like Cdx2, helping maintain pluripotency in both mouse and human ESCs 2. The protein's deadenylase activity is dynamically regulated through MK2-mediated phosphorylation during osmotic stress, with phosphorylation reducing complex activity and affecting cellular stress resistance 3. CNOT2 is overexpressed in various cancers including breast, pancreatic, and liver cancers, where it promotes proliferation and angiogenesis through VEGF signaling pathways 456. Clinically, CNOT2 haploinsufficiency causes Intellectual Developmental disorder with Nasal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS), characterized by developmental delay, hypotonia, learning difficulties, and distinctive facial features 78. Loss of CNOT2 function leads to P-body formation suppression and ER stress-induced apoptosis, highlighting its essential role in cellular viability 1.

Sources cited
1
CNOT2 is required for CCR4-NOT complex structural integrity and deadenylase activity; depletion causes complex destabilization and apoptosis
PMID: 21299754
2
CNOT2 maintains embryonic stem cell identity by repressing trophectoderm transcription factors like Cdx2
PMID: 22367759
3
CNOT2 deadenylase activity is regulated by MK2-mediated phosphorylation during osmotic stress
PMID: 35129087
4
CNOT2 is overexpressed in breast cancer and promotes proliferation and angiogenesis via VEGF signaling
PMID: 29024811
5
CNOT2 promotes pancreatic cancer cell survival and c-Myc stability
PMID: 37550432
6
CNOT2 is involved in liver cancer growth and interacts with c-Myc regulation
PMID: 32316188
7
CNOT2 haploinsufficiency causes 12q15 deletion syndrome with developmental delay and nasal speech
PMID: 31145527
8
CNOT2 variants cause IDNADFS with neurodevelopmental features including dysmorphic facies and skeletal anomalies
PMID: 36224108
Disease Associationsβ“˜21
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesOpen Targets
0.63Moderate
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorderOpen Targets
0.30Weak
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorderOpen Targets
0.30Weak
rheumatic heart diseaseOpen Targets
0.29Weak
hypertensionOpen Targets
0.28Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.26Weak
osteoarthritis, kneeOpen Targets
0.25Weak
Testicular Germ Cell TumorOpen Targets
0.24Weak
osteoarthritis, hipOpen Targets
0.24Weak
essential hypertensionOpen Targets
0.22Weak
Hodgkins lymphomaOpen Targets
0.20Weak
cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
ThymomaOpen Targets
0.04Suggestive
balanoposthitisOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesUniProt
Pathogenic Variants6
NM_014515.7(CNOT2):c.49-2A>GLikely pathogenic
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
β˜…β˜†β˜†β˜†2025
NM_014515.7(CNOT2):c.203_211delinsACCATCTACA (p.Leu68fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 228
NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 541
NM_014515.7(CNOT2):c.1369del (p.Gln457fs)Likely pathogenic
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
β˜…β˜†β˜†β˜†β†’ Residue 457
NM_014515.7(CNOT2):c.946A>T (p.Lys316Ter)Pathogenic
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
β˜†β˜†β˜†β˜†2019β†’ Residue 316
View on ClinVar β†—
Related Genes
CNOT10Protein interaction100%CNOT8Protein interaction100%CNOT7Protein interaction100%CNOT4Protein interaction100%TOB1Protein interaction98%CPEB3Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
47%
Brain
45%
Ovary
44%
Heart
39%
Liver
37%
Gene Interaction Network
Click a node to explore
CNOT2CNOT10CNOT8CNOT7CNOT4TOB1CPEB3
PROTEIN STRUCTURE
Preparing viewer…
PDB4C0F Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.21]
RankingsWhere CNOT2 stands among ~20K protein-coding genes
  • #5,131of 20,598
    Most Researched93 Β· top quartile
  • #3,346of 5,498
    Most Pathogenic Variants6
  • #512of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedCNOT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CNOT2 promotes proliferation and angiogenesis via VEGF signaling in MDA-MB-231 breast cancer cells.
PMID: 29024811
Cancer Lett Β· 2018
1.00
2
Cnot1, Cnot2, and Cnot3 maintain mouse and human ESC identity and inhibit extraembryonic differentiation.
PMID: 22367759
Stem Cells Β· 2012
0.90
3
Momordicae Semen inhibits migration and induces apoptotic cell death by regulating c-Myc and CNOT2 in human pancreatic cancer cells.
PMID: 37550432
Sci Rep Β· 2023
0.80
4
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
PMID: 31145527
Am J Med Genet A Β· 2019
0.70
5
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
PMID: 36224108
Clin Genet Β· 2023
0.60