Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	56853
Gene name	CUGBP Elav-like family member 4
Gene symbol	CELF4
Synonyms (NCBI Gene)	BRUNOL4CELF-4
Chromosome	18
Chromosome location	18q12.2
Summary	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

Show/Hide all (41)

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
MIRT884161	hsa-miR-3157-5p	CLIP-seq
MIRT884162	hsa-miR-4267	CLIP-seq
MIRT884163	hsa-miR-4659a-3p	CLIP-seq
MIRT884164	hsa-miR-4659b-3p	CLIP-seq
MIRT884165	hsa-miR-4775	CLIP-seq
MIRT884166	hsa-miR-499a-5p	CLIP-seq
MIRT884167	hsa-miR-5096	CLIP-seq
MIRT884168	hsa-miR-513b	CLIP-seq
MIRT884169	hsa-miR-599	CLIP-seq
MIRT884166	hsa-miR-499a-5p	CLIP-seq
MIRT884167	hsa-miR-5096	CLIP-seq
MIRT884168	hsa-miR-513b	CLIP-seq
MIRT884170	hsa-miR-1229	CLIP-seq
MIRT884171	hsa-miR-342-3p	CLIP-seq
MIRT884172	hsa-miR-4667-3p	CLIP-seq
MIRT884166	hsa-miR-499a-5p	CLIP-seq
MIRT884167	hsa-miR-5096	CLIP-seq
MIRT884168	hsa-miR-513b	CLIP-seq
MIRT1921558	hsa-miR-378	CLIP-seq
MIRT1921558	hsa-miR-378	CLIP-seq
MIRT1921558	hsa-miR-378	CLIP-seq
MIRT1962145	hsa-miR-1255a	CLIP-seq
MIRT1962146	hsa-miR-1255b	CLIP-seq
MIRT1962147	hsa-miR-330-3p	CLIP-seq
MIRT884163	hsa-miR-4659a-3p	CLIP-seq
MIRT884164	hsa-miR-4659b-3p	CLIP-seq
MIRT1962148	hsa-miR-4738-3p	CLIP-seq
MIRT1962149	hsa-miR-4778-3p	CLIP-seq
MIRT1962150	hsa-miR-518a-3p	CLIP-seq
MIRT1962151	hsa-miR-518b	CLIP-seq
MIRT1962152	hsa-miR-518c	CLIP-seq
MIRT1962153	hsa-miR-518d-3p	CLIP-seq
MIRT1962154	hsa-miR-518f	CLIP-seq
MIRT1962155	hsa-miR-582-3p	CLIP-seq
MIRT1962156	hsa-miR-890	CLIP-seq
MIRT1921558	hsa-miR-378	CLIP-seq

Show/Hide all (35)

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
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	19720736
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	11158314
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000900	Function	MRNA regulatory element binding translation repressor activity	NAS	10893231
GO:0001701	Process	In utero embryonic development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11158314
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006376	Process	MRNA splice site recognition	IBA
GO:0006376	Process	MRNA splice site recognition	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007281	Process	Germ cell development	NAS	10893231
GO:0008380	Process	RNA splicing	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	NAS	10893231
GO:0017148	Process	Negative regulation of translation	IEA
GO:0036002	Function	Pre-mRNA binding	IDA	11158314
GO:0042835	Function	BRE binding	ISS
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IEA
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IDA	15009664
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0098794	Component	Postsynapse	IEA
GO:1902866	Process	Regulation of retina development in camera-type eye	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA

MIM	HGNC	e!Ensembl
612679	14015	ENSG00000101489

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
LPGMNRPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLNKQQSEDDVRRLFEAFGNIEE
CTILRGPDGNSKGCAFVKYSSHAEAQAAINALHGSQTMPGASSSLVVKFADTDKERTMRR
MQQMAGQMGMFNPMAIPFGAYGAYAQALMQQQAALMASVAQGGYLNPMAAFAAAQMQQMA
ALNMNGLAAAPMTPTSGGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFAN
GIHPYPAQSPTAADPLQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEG
CNLFIYHLPQEFGDAELMQMFLPFGFVSFDNPASAQTAIQAMNGFQIGMKRLKVQLKRPK
DANRPY

Sequence length

486

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CELF4-related disorder	Likely benign; Benign; Uncertain significance	rs1368349813, rs780570053, rs143810394, rs1443638, rs2515400162, rs371812303, rs146847221, rs142389555, rs765790379, rs78311159	RCV003919633 RCV003931898 RCV003916899 RCV003984560 RCV003951985 RCV003952176 RCV003931664 RCV003944444 RCV003962022 RCV003968278
Developmental disorder	Conflicting classifications of pathogenicity	rs561213595	RCV003764458
Myoepithelial tumor	Uncertain significance	rs186688229	RCV002463941
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs561213595	RCV005250326

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Irritable Bowel Syndrome	Associate	40226707
Mental Disorders	Associate	22617346
Obesity	Associate	22617346, 30903111
Seizures	Associate	22617346

CELF4 (CUGBP Elav-like family member 4)