CELF2
entrez
10659
canonical
uniprot
O95319
canonical
ensembl
ENSG00000048740
resolver
ensp
ENSP00000382743
resolver
ensp
ENSP00000404834
resolver
ensp
ENSP00000406451
resolver
ensp
ENSP00000443926
resolver
ensp
ENSP00000476656
resolver
ensp
ENSP00000476999
resolver
ensp
ENSP00000487802
resolver
ensp
ENSP00000488268
resolver
ensp
ENSP00000488422
resolver
ensp
ENSP00000488582
resolver
ensp
ENSP00000488690
resolver
ensp
ENSP00000489955
resolver
ensp
ENSP00000490185
resolver
ensp
ENSP00000490401
resolver
ensp
ENSP00000574713
resolver
ensp
ENSP00000574714
resolver
ensp
ENSP00000684981
resolver
ensp
ENSP00000788954
resolver
enst
ENST00000542579
resolver
enst
ENST00000631816
resolver
enst
ENST00000632065
resolver
enst
ENST00000633077
resolver
enst
ENST00000636488
resolver
enst
ENST00000637215
resolver
genesymbol
CELF2
resolver
genesymbol_syn
BRUNOL3
resolver
genesymbol_syn
CUGBP2
resolver
genesymbol_syn
ETR3
resolver
genesymbol_syn
NAPOR
resolver
hgnc
HGNC:2550
resolver
uniprot
A0A0J9YX66
resolver
uniprot
A0A0J9YXJ0
resolver
uniprot
A0A1B0GU44
resolver
uniprot
A0A1B0GUN8
resolver
uniprot
B4DDE7
resolver
uniprot
B4DIB6
resolver
uniprot
B4DT00
resolver
uniprot
B4DZ01
resolver
uniprot
B7ZAN9
resolver
uniprot
E9PC62
resolver
uniprot
Q7KYU4
resolver
uniprot
Q8N499
resolver
uniprot
Q92950
resolver
uniprot
Q96NW9
resolver
uniprot
Q96RQ5
resolver
uniprot
Q96RQ6
resolver
uniprot
Q9UL67
resolver
uniprot_entry
A0A0J9YX66_HUMAN
resolver
uniprot_entry
A0A0J9YXJ0_HUMAN
resolver
uniprot_entry
A0A1B0GU44_HUMAN
resolver
uniprot_entry
A0A1B0GUN8_HUMAN
resolver
uniprot_entry
B4DDE7_HUMAN
resolver
uniprot_entry
B4DIB6_HUMAN
resolver
uniprot_entry
B4DT00_HUMAN
resolver
uniprot_entry
B4DZ01_HUMAN
resolver
uniprot_entry
CELF2_HUMAN
resolver
uniprot_entry
E9PC62_HUMAN
resolver
uniprot_sec
B7ZAN9
resolver
uniprot_sec
Q7KYU4
resolver
uniprot_sec
Q8N499
resolver
uniprot_sec
Q92950
resolver
uniprot_sec
Q96NW9
resolver
uniprot_sec
Q96RQ5
resolver
uniprot_sec
Q96RQ6
resolver
uniprot_sec
Q9UL67
resolver
amino_acid_sequence
MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 97 (DEE97) [MIM:619561]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE97 is an autosomal dominant form. {ECO:0000269|PubMed:33131106}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein implicated in the regulation of several post-transcriptional events (PubMed:11577082, PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417). Involved in pre-mRNA alternative splicing, mRNA translation and stability (PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417, PubMed:15894795). Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing (PubMed:11158314, PubMed:11931771, PubMed:12649496). Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle (PubMed:11158314, PubMed:11931771). Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB (PubMed:11931771). Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs (PubMed:12649496). Promotes inclusion of exon 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA (By similarity). Involved in the apoB RNA editing activity (PubMed:11577082). Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5 (PubMed:11158314). Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs (PubMed:11931771, PubMed:15657417). Binds to apoB mRNA, specifically to AU-rich sequences located immediately upstream of the edited cytidine (PubMed:11577082). Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (PubMed:11158314). May be a specific regulator of miRNA biogenesis (PubMed:28431233). Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233). {ECO:0000250|UniProtKB:Q9Z0H4, ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:11577082, ECO:0000269|PubMed:11931771, ECO:0000269|PubMed:12649496, ECO:0000269|PubMed:14973222, ECO:0000269|PubMed:15657417, ECO:0000269|PubMed:15894795, ECO:0000269|PubMed:28431233}.
uniprot
proteins
mass_dalton
54285
uniprot
proteins
protein_family
CELF/BRUNOL family
uniprot
proteins
pubmed
10524244
uniprot
proteins
pubmed
10893231
uniprot
proteins
pubmed
11158314
uniprot
proteins
pubmed
11414768
uniprot
proteins
pubmed
11577082
uniprot
proteins
pubmed
11931771
uniprot
proteins
pubmed
12649496
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14973222
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657417
uniprot
proteins
pubmed
15894795
uniprot
proteins
pubmed
16862542
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
28431233
uniprot
proteins
pubmed
33131106
uniprot
proteins
pubmed
8948631
uniprot
proteins
pubmed
9858671
uniprot
proteins
sequence_length
508
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:33131106}. Cytoplasm {ECO:0000250|UniProtKB:Q7T2T1, ECO:0000250|UniProtKB:Q9Z0H4}. Note=Accumulates in the cytoplasm after ionizing radiation (By similarity). Colocalizes with APOBEC1 and A1CF. RNA-binding activity is detected in both nuclear and cytoplasmic compartments. {ECO:0000250}.
uniprot
proteins