CNOT2
entrez
4848
canonical
uniprot
Q9NZN8
canonical
ensembl
ENSG00000111596
resolver
ensp
ENSP00000229195
resolver
ensp
ENSP00000412091
resolver
ensp
ENSP00000448024
resolver
ensp
ENSP00000449260
resolver
ensp
ENSP00000449659
resolver
ensp
ENSP00000698020
resolver
ensp
ENSP00000698022
resolver
ensp
ENSP00000698023
resolver
enst
ENST00000548159
resolver
enst
ENST00000550641
resolver
genesymbol
CNOT2
resolver
genesymbol_syn
CDC36
resolver
genesymbol_syn
NOT2
resolver
hgnc
HGNC:7878
resolver
uniprot
B2RDX7
resolver
uniprot
B3KTL6
resolver
uniprot
F8VUB4
resolver
uniprot
F8VV52
resolver
uniprot
Q9H3E0
resolver
uniprot
Q9NSX5
resolver
uniprot
Q9NWR6
resolver
uniprot
Q9P028
resolver
uniprot_entry
B2RDX7_HUMAN
resolver
uniprot_entry
B3KTL6_HUMAN
resolver
uniprot_entry
CNOT2_HUMAN
resolver
uniprot_entry
F8VUB4_HUMAN
resolver
uniprot_entry
F8VV52_HUMAN
resolver
uniprot_sec
Q9H3E0
resolver
uniprot_sec
Q9NSX5
resolver
uniprot_sec
Q9NWR6
resolver
uniprot_sec
Q9P028
resolver
amino_acid_sequence
MVRTDGHTLSEKRNYQVTNSMFGASRKKFVEGVDSDYHDENMYYSQSSMFPHRSEKDMLASPSTSGQLSQFGASLYGQQSALGLPMRGMSNNTPQLNRSLSQGTQLPSHVTPTTGVPTMSLHTPPSPSRGILPMNPRNMMNHSQVGQGIGIPSRTNSMSSSGLGSPNRSSPSIICMPKQQPSRQPFTVNSMSGFGMNRNQAFGMNNSLSSNIFNGTDGSENVTGLDLSDFPALADRNRREGSGNPTPLINPLAGRAPYVGMVTKPANEQSQDFSIHNEDFPALPGSSYKDPTSSNDDSKSNLNTSGKTTSSTDGPKFPGDKSSTTQNNNQQKKGIQVLPDGRVTNIPQGMVTDQFGMIGLLTFIRAAETDPGMVHLALGSDLTTLGLNLNSPENLYPKFASPWASSPCRPQDIDFHVPSEYLTNIHIRDKLAAIKLGRYGEDLLFYLYYMNGGDVLQLLAAVELFNRDWRYHKEERVWITRAPGMEPTMKTNTYERGTYYFFDCLNWRKVAKEFHLEYDKLEERPHLPSTFNYNPAQQAF
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) [MIM:618608]: An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet. {ECO:0000269|PubMed:31145527, ECO:0000269|PubMed:31512373}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of embryonic stem (ES) cell identity. {ECO:0000269|PubMed:14707134, ECO:0000269|PubMed:16712523, ECO:0000269|PubMed:21299754, ECO:0000269|PubMed:22367759}.
uniprot
proteins
mass_dalton
59738
uniprot
proteins
protein_family
CNOT2/3/5 family
uniprot
proteins
pubmed
10637334
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14707134
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16712523
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19558367
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21299754
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22367759
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31145527
uniprot
proteins
pubmed
31512373
uniprot
proteins
sequence_length
540
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21299754}. Nucleus {ECO:0000305|PubMed:21299754}.
uniprot
proteins