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 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
DEE97 |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
21379329 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
28319090 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs587776843 |
31407831 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
21822266 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Epileptic encephalopathy |
undetermined early-onset epileptic encephalopathy, developmental and epileptic encephalopathy 97 |
|
|
GenCC |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Neuroticism |
Neuroticism |
|
|
GWAS |
Periodontitis |
Periodontitis |
|
|
GWAS |
Carcinoma |
Carcinoma |
|
|
GWAS |
Kidney Disease |
Kidney Disease |
|
|
GWAS |
Dental caries |
Dental caries |
|
|
GWAS |
Motion Sickness |
Motion Sickness |
|
|
GWAS |
Takayasu Arteritis |
Takayasu Arteritis |
|
|
GWAS |
Ischemic Stroke |
Ischemic Stroke |
|
|
GWAS |
|
Associations from Text Mining |
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 |
|