Gene Gene information from NCBI Gene database.
Entrez ID 4848
Gene name CCR4-NOT transcription complex subunit 2
Gene symbol CNOT2
Synonyms (NCBI Gene)
CDC36HSPC131IDNADFSNOT2NOT2H
Chromosome 12
Chromosome location 12q15
Summary This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1593269476 A>T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
217
miRTarBase ID miRNA Experiments Reference
MIRT051943 hsa-let-7b-5p CLASH 23622248
MIRT044094 hsa-miR-361-5p CLASH 23622248
MIRT036704 hsa-miR-301b-3p CLASH 23622248
MIRT615077 hsa-miR-1264 HITS-CLIP 23824327
MIRT615076 hsa-miR-9500 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14707134, 16712523
GO:0000289 Process Nuclear-transcribed mRNA poly(A) tail shortening IBA
GO:0000289 Process Nuclear-transcribed mRNA poly(A) tail shortening NAS 31320642
GO:0000932 Component P-body IBA
GO:0001222 Function Transcription corepressor binding IDA 16712523
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604909 7878 ENSG00000111596
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZN8
Protein name CCR4-NOT transcription complex subunit 2 (CCR4-associated factor 2)
Protein function Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiati
PDB 4C0D , 4C0F , 5FU6 , 5FU7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04153 NOT2_3_5 396 521 NOT2 / NOT3 / NOT5 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:10637334}.
Sequence
MVRTDGHTLSEKRNYQVTNSMFGASRKKFVEGVDSDYHDENMYYSQSSMFPHRSEKDMLA
SPSTSGQLSQFGASLYGQQSALGLPMRGMSNNTPQLNRSLSQGTQLPSHVTPTTGVPTMS
LHTPPSPSRGILPMNPRNMMNHSQVGQGIGIPSRTNSMSSSGLGSPNRSSPSIICMPKQQ
PSRQPFTVNSMSGFGMNRNQAFGMNNSLSSNIFNGTDGSENVTGLDLSDFPALADRNRRE
GSGNPTPLINPLAGRAPYVGMVTKPANEQSQDFSIHNEDFPALPGSSYKDPTSSNDDSKS
NLNTSGKTTSSTDGPKFPGDKSSTTQNNNQQKKGIQVLPDGRVTNIPQGMVTDQFGMIGL
LTFIRAAETDPGMVHLALGSDLTTLGLNLNSPENLYPKFASPWASSPCRPQDIDFHVPSE
YLTNIHIRDKLAAIKLGRYGEDLLFYLYYMNGGDVLQLLAAVELFNRDWRYHKEERVWIT
RAPGMEPTMKTNTYERGTYYFFDCLNWRKVAKEFHLEYDKL
EERPHLPSTFNYNPAQQAF
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation   Deadenylation of mRNA
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies Pathogenic rs1593269476 RCV000852366
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2136104001 RCV001374950
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
12Q15Q21 MICRODELETION SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
12Q15Q21.1 MICRODELETION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CNOT2-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 30692147, 34680125, 34698000 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32316188, 34680125 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34680125 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 31145527
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 34680125 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma BEFREE 28857427
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 31574980
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 24322557
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm GWASCAT_DG 30557369
★☆☆☆☆
Found in Text Mining only