Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

217

Show/Hide all (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
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT507706	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT507705	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT507704	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT507703	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT507699	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT507697	hsa-miR-7703	PAR-CLIP	20371350
MIRT507698	hsa-miR-4325	PAR-CLIP	20371350
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT507706	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT507705	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT507704	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT507703	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT532408	hsa-miR-935	PAR-CLIP	21572407
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT507699	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT507697	hsa-miR-7703	PAR-CLIP	21572407
MIRT507698	hsa-miR-4325	PAR-CLIP	21572407
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	22012620
MIRT507706	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT507704	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT507703	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT532408	hsa-miR-935	PAR-CLIP	22012620
MIRT507699	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT507697	hsa-miR-7703	PAR-CLIP	22012620
MIRT507698	hsa-miR-4325	PAR-CLIP	22012620
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	22012620
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT507706	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT507705	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT507704	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT507703	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	23446348
MIRT507699	hsa-miR-889-3p	PAR-CLIP	23446348
MIRT507697	hsa-miR-7703	PAR-CLIP	23446348
MIRT507698	hsa-miR-4325	PAR-CLIP	23446348
MIRT615077	hsa-miR-1264	HITS-CLIP	23824327
MIRT615076	hsa-miR-9500	HITS-CLIP	23824327
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT507706	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT507705	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT507704	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT507703	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT507699	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT507697	hsa-miR-7703	PAR-CLIP	20371350
MIRT507698	hsa-miR-4325	PAR-CLIP	20371350
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT507706	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT507705	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT507704	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT507703	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT532408	hsa-miR-935	PAR-CLIP	21572407
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT507699	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT507697	hsa-miR-7703	PAR-CLIP	21572407
MIRT507698	hsa-miR-4325	PAR-CLIP	21572407
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	22012620
MIRT507706	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT507704	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT507703	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT532408	hsa-miR-935	PAR-CLIP	22012620
MIRT507699	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT507697	hsa-miR-7703	PAR-CLIP	22012620
MIRT507698	hsa-miR-4325	PAR-CLIP	22012620
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	22012620
MIRT507707	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT507706	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT507705	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT507704	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT507703	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT507702	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT507701	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT507700	hsa-miR-548au-3p	PAR-CLIP	23446348
MIRT507699	hsa-miR-889-3p	PAR-CLIP	23446348
MIRT507697	hsa-miR-7703	PAR-CLIP	23446348
MIRT507698	hsa-miR-4325	PAR-CLIP	23446348
MIRT900326	hsa-miR-105	CLIP-seq
MIRT900327	hsa-miR-1184	CLIP-seq
MIRT900328	hsa-miR-1202	CLIP-seq
MIRT900329	hsa-miR-1205	CLIP-seq
MIRT900330	hsa-miR-124	CLIP-seq
MIRT900331	hsa-miR-1286	CLIP-seq
MIRT900332	hsa-miR-223	CLIP-seq
MIRT900333	hsa-miR-23a	CLIP-seq
MIRT900334	hsa-miR-23b	CLIP-seq
MIRT900335	hsa-miR-23c	CLIP-seq
MIRT900336	hsa-miR-299-3p	CLIP-seq
MIRT900337	hsa-miR-3121-3p	CLIP-seq
MIRT900338	hsa-miR-3124-3p	CLIP-seq
MIRT900339	hsa-miR-3158-5p	CLIP-seq
MIRT900340	hsa-miR-3182	CLIP-seq
MIRT900341	hsa-miR-3646	CLIP-seq
MIRT900342	hsa-miR-3714	CLIP-seq
MIRT900343	hsa-miR-3910	CLIP-seq
MIRT900344	hsa-miR-3972	CLIP-seq
MIRT900345	hsa-miR-410	CLIP-seq
MIRT900346	hsa-miR-412	CLIP-seq
MIRT900347	hsa-miR-4277	CLIP-seq
MIRT900348	hsa-miR-4282	CLIP-seq
MIRT900349	hsa-miR-4302	CLIP-seq
MIRT900350	hsa-miR-4491	CLIP-seq
MIRT900351	hsa-miR-450a	CLIP-seq
MIRT900352	hsa-miR-4643	CLIP-seq
MIRT900353	hsa-miR-4657	CLIP-seq
MIRT900354	hsa-miR-466	CLIP-seq
MIRT900355	hsa-miR-4697-3p	CLIP-seq
MIRT900356	hsa-miR-4729	CLIP-seq
MIRT900357	hsa-miR-4781-3p	CLIP-seq
MIRT900358	hsa-miR-4789-3p	CLIP-seq
MIRT900359	hsa-miR-506	CLIP-seq
MIRT900360	hsa-miR-522	CLIP-seq
MIRT900361	hsa-miR-544	CLIP-seq
MIRT900362	hsa-miR-548c-3p	CLIP-seq
MIRT900363	hsa-miR-576-3p	CLIP-seq
MIRT900364	hsa-miR-940	CLIP-seq
MIRT900365	hsa-let-7a	CLIP-seq
MIRT900366	hsa-let-7b	CLIP-seq
MIRT900367	hsa-let-7c	CLIP-seq
MIRT900368	hsa-let-7d	CLIP-seq
MIRT900369	hsa-let-7e	CLIP-seq
MIRT900370	hsa-let-7f	CLIP-seq
MIRT900371	hsa-let-7g	CLIP-seq
MIRT900372	hsa-let-7i	CLIP-seq
MIRT900327	hsa-miR-1184	CLIP-seq
MIRT900329	hsa-miR-1205	CLIP-seq
MIRT900330	hsa-miR-124	CLIP-seq
MIRT900331	hsa-miR-1286	CLIP-seq
MIRT900373	hsa-miR-202	CLIP-seq
MIRT900374	hsa-miR-214	CLIP-seq
MIRT900375	hsa-miR-218	CLIP-seq
MIRT900376	hsa-miR-3120-3p	CLIP-seq
MIRT900337	hsa-miR-3121-3p	CLIP-seq
MIRT900377	hsa-miR-3147	CLIP-seq
MIRT900339	hsa-miR-3158-5p	CLIP-seq
MIRT900378	hsa-miR-3619-5p	CLIP-seq
MIRT900342	hsa-miR-3714	CLIP-seq
MIRT900343	hsa-miR-3910	CLIP-seq
MIRT900347	hsa-miR-4277	CLIP-seq
MIRT900379	hsa-miR-4329	CLIP-seq
MIRT900380	hsa-miR-4425	CLIP-seq
MIRT900381	hsa-miR-4458	CLIP-seq
MIRT900382	hsa-miR-4470	CLIP-seq
MIRT900383	hsa-miR-4500	CLIP-seq
MIRT900384	hsa-miR-4663	CLIP-seq
MIRT900357	hsa-miR-4781-3p	CLIP-seq
MIRT900385	hsa-miR-496	CLIP-seq
MIRT900359	hsa-miR-506	CLIP-seq
MIRT900361	hsa-miR-544	CLIP-seq
MIRT900363	hsa-miR-576-3p	CLIP-seq
MIRT900386	hsa-miR-761	CLIP-seq
MIRT900364	hsa-miR-940	CLIP-seq
MIRT900387	hsa-miR-98	CLIP-seq
MIRT1967161	hsa-miR-520a-5p	CLIP-seq
MIRT1967162	hsa-miR-525-5p	CLIP-seq
MIRT900365	hsa-let-7a	CLIP-seq
MIRT900366	hsa-let-7b	CLIP-seq
MIRT900367	hsa-let-7c	CLIP-seq
MIRT900368	hsa-let-7d	CLIP-seq
MIRT900369	hsa-let-7e	CLIP-seq
MIRT900370	hsa-let-7f	CLIP-seq
MIRT900371	hsa-let-7g	CLIP-seq
MIRT900372	hsa-let-7i	CLIP-seq
MIRT900327	hsa-miR-1184	CLIP-seq
MIRT900329	hsa-miR-1205	CLIP-seq
MIRT900373	hsa-miR-202	CLIP-seq
MIRT900374	hsa-miR-214	CLIP-seq
MIRT900376	hsa-miR-3120-3p	CLIP-seq
MIRT900337	hsa-miR-3121-3p	CLIP-seq
MIRT900339	hsa-miR-3158-5p	CLIP-seq
MIRT900378	hsa-miR-3619-5p	CLIP-seq
MIRT900345	hsa-miR-410	CLIP-seq
MIRT900381	hsa-miR-4458	CLIP-seq
MIRT900382	hsa-miR-4470	CLIP-seq
MIRT900383	hsa-miR-4500	CLIP-seq
MIRT900357	hsa-miR-4781-3p	CLIP-seq
MIRT900361	hsa-miR-544	CLIP-seq
MIRT900363	hsa-miR-576-3p	CLIP-seq
MIRT900386	hsa-miR-761	CLIP-seq
MIRT900387	hsa-miR-98	CLIP-seq
MIRT2505663	hsa-miR-1273	CLIP-seq
MIRT2505664	hsa-miR-1273c	CLIP-seq
MIRT2505665	hsa-miR-130a	CLIP-seq
MIRT2505666	hsa-miR-130b	CLIP-seq
MIRT2505667	hsa-miR-219-2-3p	CLIP-seq
MIRT2505668	hsa-miR-2964a-3p	CLIP-seq
MIRT2505669	hsa-miR-301a	CLIP-seq
MIRT2505670	hsa-miR-301b	CLIP-seq
MIRT2505671	hsa-miR-331-3p	CLIP-seq
MIRT2505672	hsa-miR-3666	CLIP-seq
MIRT2505673	hsa-miR-4264	CLIP-seq
MIRT900347	hsa-miR-4277	CLIP-seq
MIRT2505674	hsa-miR-4295	CLIP-seq
MIRT2505675	hsa-miR-454	CLIP-seq
MIRT2505676	hsa-miR-4671-3p	CLIP-seq
MIRT2505677	hsa-miR-4797-3p	CLIP-seq
MIRT2505678	hsa-miR-759	CLIP-seq

Show/Hide all (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
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0003712	Function	Transcription coregulator activity	TAS	10637334
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IMP	21299754
GO:0005515	Function	Protein binding	IPI	10637334, 16189514, 16778766, 17452450, 18377426, 20211142, 21981923, 21984185, 26496610, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	10637334
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21299754
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	10637334
GO:0006417	Process	Regulation of translation	IEA
GO:0010606	Process	Positive regulation of cytoplasmic mRNA processing body assembly	IMP	21299754
GO:0016020	Component	Membrane	HDA	19946888
GO:0030014	Component	CCR4-NOT complex	IDA	19558367
GO:0030014	Component	CCR4-NOT complex	NAS	19558367
GO:0030015	Component	CCR4-NOT core complex	IBA
GO:0030015	Component	CCR4-NOT core complex	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IMP	16778766
GO:2000036	Process	Regulation of stem cell population maintenance	IBA
GO:2000036	Process	Regulation of stem cell population maintenance	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	IMP	22367759

MIM	HGNC	e!Ensembl
604909	7878	ENSG00000111596

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
RAPGMEPTMKTNTYERGTYYFFDCLNWRKVAKEFHLEYDKLEERPHLPSTFNYNPAQQAF

Sequence length

540

Interactions

View interactions

	KEGG		Reactome
	RNA degradation		Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	Pathogenic	rs1593269476	RCV000852366
Neurodevelopmental disorder	Likely pathogenic	rs2136104001	RCV001374950

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CNOT2-related disorder	Uncertain significance; Likely benign	rs1443243067, rs2499098662	RCV003393179 RCV003976851

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	28640357
Breast Neoplasms	Associate	30692147, 34680125, 34698000
Carcinoma Hepatocellular	Associate	32316188, 34680125
Carcinoma Non Small Cell Lung	Associate	31894259
Colorectal Neoplasms	Associate	34680125
Lung Neoplasms	Associate	34680125
Lymphoma Large B Cell Diffuse	Associate	26294112
Neoplasms	Associate	23583282, 34680125
Pancreatic Neoplasms	Associate	37550432
Salivary Duct Calculi	Associate	23583282

CNOT2 (CCR4-NOT transcription complex subunit 2)