Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56853
Gene name Gene Name - the full gene name approved by the HGNC.
CUGBP Elav-like family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CELF4
Synonyms (NCBI Gene) Gene synonyms aliases
BRUNOL4, CELF-4
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.2
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017658 hsa-miR-335-5p Microarray 18185580
MIRT734475 hsa-miR-190a-5p Microarray 32878473
MIRT884158 hsa-miR-129-3p CLIP-seq
MIRT884159 hsa-miR-129-5p CLIP-seq
MIRT884160 hsa-miR-147 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IDA 19720736
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 11158314, 19720736
GO:0000900 Function Translation repressor activity, mRNA regulatory element binding NAS 10893231
GO:0001701 Process In utero embryonic development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612679 14015 ENSG00000101489
Protein
UniProt ID Q9BZC1
Protein name CUGBP Elav-like family member 4 (CELF-4) (Bruno-like protein 4) (CUG-BP- and ETR-3-like factor 4) (RNA-binding protein BRUNOL-4)
Protein function RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activate
PDB 2DGP , 2DNK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 56 125 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 154 222 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 430 473 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes. {ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12438720, ECO:0000269|PubMed:16862542}.
Sequence
MYIKMATLANGQADNASLSTNGLGSSPGSAGHMNGLSHSPGNPSTIPMKDHDAIKLFIGQ
IPRNLDEKDLKPLFEEFGKIYELTVLKDRFTGMHKGCAFLTYCERESALKAQSALHEQKT
LPGMN
RPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLNKQQSEDDVRRLFEAFGNIEE
CTILRGPDGNSKGCAFVKYSSHAEAQAAINALHGSQTMPGAS
SSLVVKFADTDKERTMRR
MQQMAGQMGMFNPMAIPFGAYGAYAQALMQQQAALMASVAQGGYLNPMAAFAAAQMQQMA
ALNMNGLAAAPMTPTSGGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFAN
GIHPYPAQSPTAADPLQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEG
CNLFIYHLPQEFGDAELMQMFLPFGFVSFDNPASAQTAIQAMNGFQIGMKRLKVQLKRPK
DANRPY
Sequence length 486
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 29559929, 29942085, 29662059, 30718901 ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder GenCC
Neuroticism Neuroticism GWAS
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cardiomyopathies Associate 26811534, 26968791
Colorectal Neoplasms Associate 32828126, 33930674, 34080453
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 22617346
Dental Caries Associate 31148553
Depressive Disorder Associate 40226707
Diabetes Mellitus Type 2 Associate 23626757
Gastroesophageal Reflux Associate 40226707
Genetic Diseases Inborn Associate 29241933
Glioma Associate 33765507
Hypertension Associate 30903111