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 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IDDSADF |
Chromosome
Chromosome number
|
19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.42 |
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 |
|
Sequence length |
753 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Lymphoblastic leukemia |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma, Precursor T-cell acute lymphoblastic leukemia |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
23263491, 30450575 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29662167, 29610475 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
|
Associations from Text Mining |
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 |
Hydrocephalus |
Associate
|
40603987 |
Intellectual Disability |
Associate
|
31201375, 31474762 |
Intracranial Arteriosclerosis |
Associate
|
34073619 |
Keratoconus |
Associate
|
36811882 |
Language Development Disorders |
Associate
|
34208845 |
Mental Retardation Autosomal Recessive 7 |
Associate
|
34208845 |
Moyamoya disease 1 |
Associate
|
31474762 |
Multiple Myeloma |
Associate
|
30809292 |
Muscle Hypotonia |
Associate
|
31201375 |
Pathological Conditions Anatomical |
Associate
|
34208845 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
27151989 |
Retinal Degeneration |
Inhibit
|
23144630 |
Retinitis Pigmentosa |
Associate
|
23144630, 24116917, 36338669 |
|