|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10659
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
CUGBP Elav-like family member 2 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CELF2 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
BRUNOL3, CELF-2, CUG-BP2, CUGBP2, DEE97, ETR-3, ETR3, NAPOR |
|
Chromosome
Chromosome number
|
10 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10p14 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mR |
| UniProt ID |
O95319
|
| Protein name |
CUGBP Elav-like family member 2 (CELF-2) (Bruno-like protein 3) (CUG triplet repeat RNA-binding protein 2) (CUG-BP2) (CUG-BP- and ETR-3-like factor 2) (ELAV-type RNA-binding protein 3) (ETR-3) (Neuroblastoma apoptosis-related RNA-binding protein) (hNAPOR) |
| Protein function |
RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-s |
| PDB |
2MY7
,
2MY8
,
4LJM
,
4LMZ
,
4TLQ
,
5M8I
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00076
|
RRM_1 |
42 → 113 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
|
PF00076
|
RRM_1 |
134 → 202 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
|
PF00076
|
RRM_1 |
425 → 495 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed in frontal cortex. Isoform 1 is expressed in brain and lung. Isoform 2 is expressed in heart, brain, placenta, lung, liver, kidney, skeletal muscle and pancreas. Isoform 4 is expressed in heart, lung, skeletal muscle, kidney |
| Sequence |
|
| Sequence length |
508 |
| Interactions |
View interactions
|
|
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 |
| Carcinoma |
Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Dental caries |
Dental caries |
N/A |
N/A |
GWAS |
| Epileptic encephalopathy |
undetermined early-onset epileptic encephalopathy, developmental and epileptic encephalopathy 97 |
N/A |
N/A |
GenCC |
| Ischemic Stroke |
Ischemic stroke |
N/A |
N/A |
GWAS |
| Kidney Disease |
Chronic kidney disease |
N/A |
N/A |
GWAS |
| Motion Sickness |
Motion sickness |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Periodontitis |
Periodontitis |
N/A |
N/A |
GWAS |
| Takayasu Arteritis |
Takayasu arteritis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
21379329 |
| Breast Neoplasms |
Associate
|
31409895, 33461604, 34288370 |
| Carcinoma Hepatocellular |
Associate
|
32271415, 32826865 |
| Carcinoma Squamous Cell |
Associate
|
34288370 |
| Colorectal Neoplasms |
Associate
|
18292181, 36727289 |
| Death |
Associate
|
26314850 |
| Dementia |
Associate
|
35327643 |
| Glioma |
Associate
|
30268547 |
| Hypoxia |
Inhibit
|
33969722 |
| Leukemia Myeloid |
Associate
|
33439746 |
| Leukemia Myeloid Acute |
Inhibit
|
33576342 |
| Leukemia Myeloid Acute |
Associate
|
35941836 |
| Leukoplakia |
Inhibit
|
40171814 |
| Lymphatic Metastasis |
Associate
|
34288370 |
| Muscle Neoplasms |
Associate
|
12606026 |
| Muscular Dystrophy Duchenne |
Associate
|
12606026 |
| Myotonic Dystrophy |
Associate
|
21439371, 35767654, 8948631 |
| Nasopharyngeal Carcinoma |
Associate
|
26314850 |
| Neoplasm Metastasis |
Associate
|
26314850 |
| Neoplasms |
Inhibit
|
32826865, 40171814 |
| Neoplasms |
Associate
|
33196683, 34288370 |
| Ovarian Neoplasms |
Associate
|
35370009 |
| Primary Ovarian Insufficiency |
Associate
|
37847421 |
| Rectal Neoplasms |
Associate
|
32331433 |
| Respiratory Distress Syndrome |
Associate
|
27596159 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
33758106, 40171814 |
| Stomach Neoplasms |
Associate
|
29501762, 33186122 |
| Triple Negative Breast Neoplasms |
Associate
|
34288370 |
| Uveal melanoma |
Associate
|
33196683 |
|