CNOT3 (CCR4-NOT transcription complex subunit 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4849
Gene name Gene Name - the full gene name approved by the HGNC.
CCR4-NOT transcription complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNOT3
Synonyms (NCBI Gene) Gene synonyms aliases
IDDSADF, LENG2, NOT3, NOT3H
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs753475896 C>-,CC,CCC Uncertain-significance, pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
miRTarBase ID miRNA Experiments Reference
MIRT051783 hsa-let-7c-5p CLASH 23622248
MIRT039544 hsa-miR-652-3p CLASH 23622248
MIRT038618 hsa-miR-185-3p CLASH 23622248
MIRT900388 hsa-miR-1343 CLIP-seq
MIRT900389 hsa-miR-2115 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
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:0000932 Component P-body IEA
GO:0000932 Component P-body ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604910 7879 ENSG00000088038
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75175
Protein name CCR4-NOT transcription complex subunit 3 (CCR4-associated factor 3) (Leukocyte receptor cluster member 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 , 4C0G , 5FU6 , 5FU7 , 9C3H , 9C3I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04065 Not3 3 → 232 Not1 N-terminal domain, CCR4-Not complex component Family
PF04153 NOT2_3_5 620 → 747 NOT2 / NOT3 / NOT5 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:10637334}.
Sequence 
MADKRKLQGEIDRCLKKVSEGVEQFEDIWQKLHNAANANQKEKYEADLKKEIKKLQRLRD
QIKTWVASNEIKDKRQLIDNRKLIETQMERFKVVERETKTKAYSKEGLGLAQKVDPAQKE
KEEVGQWLTNTIDTLNMQVDQFESEVESLSVQTRKKKGDKDKQDRIEGLKRHIEKHRYHV
RMLETILRMLDNDSILVDAIRKIKDDVEYYVDSSQDPDFEENEFLYDDLDLEDIPQALVA
TSPPSHSHMEDEIFNQSSSTPTSTTSSSPIPPSPANCTTENSEDDKKRGRSTDSEVSQSP
AKNGSKPVHSNQHPQSPAVPPTYPSGPPPAASALSTTPGNNGVPAPAAPPSALGPKASPA
PSHNSGTPAPYAQAVAPPAPSGPSTTQPRPPSVQPSGGGGGGSGGGGSSSSSNSSAGGGA
GKQNGATSYSSVVADSPAEVALSSSGGNNASSQALGPPSGPHNPPPSTSKEPSAAAPTGA
GGVAPGSGNNSGGPSLLVPLPVNPPSSPTPSFSDAKAAGALLNGPPQFSTAPEIKAPEPL
SSLKSMAERAAISSGIEDPVPTLHLTERDIILSSTSAPPASAQPPLQLSEVNIPLSLGVC
PLGPVPLTKEQLYQQAMEEAAWHHMPHPSDSERIRQYLPRNPCPTPPYHHQMPPPHSDTV
EFYQRLSTETLFFIFYYLEGTKAQYLAAKALKKQSWRFHTKYMMWFQRHEEPKTITDEFE
QGTYIYFDYEKWGQRKKEGFTFEYRYLEDRDLQ
Sequence length 753
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  RNA degradation   Deadenylation of mRNA
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual developmental disorder with speech delay, autism, and dysmorphic facies rs1600471396, rs1600501018, rs1600504088, rs1600514073 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 31201375
Arterial Occlusive Diseases Stimulate 31474762
Autistic Disorder Associate 34208845
Carcinoma Small Cell Associate 31201375
Chronic Disease Associate 34208845
Developmental Disabilities Associate 31201375, 31474762
Dowling Degos Disease Associate 31201375
Drug Hypersensitivity Associate 30450575
Facies Associate 34208845
Heart Defects Congenital Associate 31474762