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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11189
Gene name	CUGBP Elav-like family member 3
Gene symbol	CELF3
Synonyms (NCBI Gene)	BRUNOL1CAGH4ERDA4ETR-1TNRC4
Chromosome	1
Chromosome location	1q21.3
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 (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749743024	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant

226

Show/Hide all (226)

miRTarBase ID	miRNA	Experiments
MIRT884073	hsa-miR-1238	CLIP-seq
MIRT884074	hsa-miR-3187-3p	CLIP-seq
MIRT884075	hsa-miR-3614-3p	CLIP-seq
MIRT884076	hsa-miR-3689a-3p	CLIP-seq
MIRT884077	hsa-miR-3689c	CLIP-seq
MIRT884078	hsa-miR-3929	CLIP-seq
MIRT884079	hsa-miR-3977	CLIP-seq
MIRT884080	hsa-miR-4326	CLIP-seq
MIRT884081	hsa-miR-4329	CLIP-seq
MIRT884082	hsa-miR-4419b	CLIP-seq
MIRT884083	hsa-miR-4433	CLIP-seq
MIRT884084	hsa-miR-4478	CLIP-seq
MIRT884085	hsa-miR-4519	CLIP-seq
MIRT884086	hsa-miR-4529-5p	CLIP-seq
MIRT884087	hsa-miR-4540	CLIP-seq
MIRT884088	hsa-miR-4672	CLIP-seq
MIRT884089	hsa-miR-4695-3p	CLIP-seq
MIRT884090	hsa-miR-4728-5p	CLIP-seq
MIRT884091	hsa-miR-4761-5p	CLIP-seq
MIRT884092	hsa-miR-485-5p	CLIP-seq
MIRT884093	hsa-miR-488	CLIP-seq
MIRT884094	hsa-miR-539	CLIP-seq
MIRT884095	hsa-miR-548c-3p	CLIP-seq
MIRT884096	hsa-miR-606	CLIP-seq
MIRT884097	hsa-miR-610	CLIP-seq
MIRT884098	hsa-miR-665	CLIP-seq
MIRT884099	hsa-miR-890	CLIP-seq
MIRT884100	hsa-miR-10a	CLIP-seq
MIRT884101	hsa-miR-10b	CLIP-seq
MIRT884102	hsa-miR-1179	CLIP-seq
MIRT884073	hsa-miR-1238	CLIP-seq
MIRT884103	hsa-miR-1282	CLIP-seq
MIRT884104	hsa-miR-1291	CLIP-seq
MIRT884105	hsa-miR-1296	CLIP-seq
MIRT884106	hsa-miR-134	CLIP-seq
MIRT884107	hsa-miR-146a	CLIP-seq
MIRT884108	hsa-miR-146b-5p	CLIP-seq
MIRT884109	hsa-miR-198	CLIP-seq
MIRT884110	hsa-miR-2909	CLIP-seq
MIRT884111	hsa-miR-298	CLIP-seq
MIRT884112	hsa-miR-3065-5p	CLIP-seq
MIRT884113	hsa-miR-3118	CLIP-seq
MIRT884114	hsa-miR-3120-5p	CLIP-seq
MIRT884115	hsa-miR-3123	CLIP-seq
MIRT884116	hsa-miR-3126-5p	CLIP-seq
MIRT884117	hsa-miR-3158-3p	CLIP-seq
MIRT884118	hsa-miR-3164	CLIP-seq
MIRT884119	hsa-miR-3189-5p	CLIP-seq
MIRT884120	hsa-miR-328	CLIP-seq
MIRT884121	hsa-miR-345	CLIP-seq
MIRT884075	hsa-miR-3614-3p	CLIP-seq
MIRT884122	hsa-miR-3689d	CLIP-seq
MIRT884123	hsa-miR-3910	CLIP-seq
MIRT884124	hsa-miR-3925-5p	CLIP-seq
MIRT884078	hsa-miR-3929	CLIP-seq
MIRT884125	hsa-miR-3973	CLIP-seq
MIRT884126	hsa-miR-3976	CLIP-seq
MIRT884079	hsa-miR-3977	CLIP-seq
MIRT884127	hsa-miR-421	CLIP-seq
MIRT884128	hsa-miR-4272	CLIP-seq
MIRT884080	hsa-miR-4326	CLIP-seq
MIRT884082	hsa-miR-4419b	CLIP-seq
MIRT884083	hsa-miR-4433	CLIP-seq
MIRT884129	hsa-miR-4446-3p	CLIP-seq
MIRT884130	hsa-miR-4461	CLIP-seq
MIRT884084	hsa-miR-4478	CLIP-seq
MIRT884131	hsa-miR-4537	CLIP-seq
MIRT884132	hsa-miR-4668-3p	CLIP-seq
MIRT884133	hsa-miR-4670-3p	CLIP-seq
MIRT884134	hsa-miR-4685-5p	CLIP-seq
MIRT884135	hsa-miR-4694-3p	CLIP-seq
MIRT884136	hsa-miR-4725-5p	CLIP-seq
MIRT884137	hsa-miR-4729	CLIP-seq
MIRT884138	hsa-miR-4738-3p	CLIP-seq
MIRT884139	hsa-miR-4758-3p	CLIP-seq
MIRT884091	hsa-miR-4761-5p	CLIP-seq
MIRT884140	hsa-miR-4766-5p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT884142	hsa-miR-4795-5p	CLIP-seq
MIRT884143	hsa-miR-4797-5p	CLIP-seq
MIRT884144	hsa-miR-4802-5p	CLIP-seq
MIRT884145	hsa-miR-495	CLIP-seq
MIRT884146	hsa-miR-503	CLIP-seq
MIRT884147	hsa-miR-504	CLIP-seq
MIRT884148	hsa-miR-508-5p	CLIP-seq
MIRT884149	hsa-miR-520g	CLIP-seq
MIRT884150	hsa-miR-520h	CLIP-seq
MIRT884094	hsa-miR-539	CLIP-seq
MIRT884151	hsa-miR-542-3p	CLIP-seq
MIRT884095	hsa-miR-548c-3p	CLIP-seq
MIRT884152	hsa-miR-561	CLIP-seq
MIRT884153	hsa-miR-576-3p	CLIP-seq
MIRT884154	hsa-miR-607	CLIP-seq
MIRT884097	hsa-miR-610	CLIP-seq
MIRT884098	hsa-miR-665	CLIP-seq
MIRT884155	hsa-miR-758	CLIP-seq
MIRT884156	hsa-miR-759	CLIP-seq
MIRT884157	hsa-miR-769-5p	CLIP-seq
MIRT1962119	hsa-miR-1275	CLIP-seq
MIRT1962120	hsa-miR-1285	CLIP-seq
MIRT1962121	hsa-miR-1827	CLIP-seq
MIRT1962122	hsa-miR-1915	CLIP-seq
MIRT884110	hsa-miR-2909	CLIP-seq
MIRT1962123	hsa-miR-30a	CLIP-seq
MIRT1962124	hsa-miR-30b	CLIP-seq
MIRT1962125	hsa-miR-30c	CLIP-seq
MIRT1962126	hsa-miR-30d	CLIP-seq
MIRT1962127	hsa-miR-30e	CLIP-seq
MIRT1962128	hsa-miR-3127-5p	CLIP-seq
MIRT1962129	hsa-miR-3187-5p	CLIP-seq
MIRT1962130	hsa-miR-331-3p	CLIP-seq
MIRT1962131	hsa-miR-3607-3p	CLIP-seq
MIRT884075	hsa-miR-3614-3p	CLIP-seq
MIRT884078	hsa-miR-3929	CLIP-seq
MIRT1962132	hsa-miR-4278	CLIP-seq
MIRT1962133	hsa-miR-4284	CLIP-seq
MIRT884081	hsa-miR-4329	CLIP-seq
MIRT884082	hsa-miR-4419b	CLIP-seq
MIRT884083	hsa-miR-4433	CLIP-seq
MIRT1962134	hsa-miR-4459	CLIP-seq
MIRT884084	hsa-miR-4478	CLIP-seq
MIRT1962135	hsa-miR-4487	CLIP-seq
MIRT1962136	hsa-miR-4505	CLIP-seq
MIRT884085	hsa-miR-4519	CLIP-seq
MIRT1962137	hsa-miR-451b	CLIP-seq
MIRT1962138	hsa-miR-4525	CLIP-seq
MIRT1962139	hsa-miR-4661-3p	CLIP-seq
MIRT1962140	hsa-miR-4665-5p	CLIP-seq
MIRT884132	hsa-miR-4668-3p	CLIP-seq
MIRT884088	hsa-miR-4672	CLIP-seq
MIRT884091	hsa-miR-4761-5p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT884092	hsa-miR-485-5p	CLIP-seq
MIRT884093	hsa-miR-488	CLIP-seq
MIRT884094	hsa-miR-539	CLIP-seq
MIRT884095	hsa-miR-548c-3p	CLIP-seq
MIRT884097	hsa-miR-610	CLIP-seq
MIRT1962141	hsa-miR-612	CLIP-seq
MIRT1962142	hsa-miR-625	CLIP-seq
MIRT1962143	hsa-miR-661	CLIP-seq
MIRT884098	hsa-miR-665	CLIP-seq
MIRT1962144	hsa-miR-922	CLIP-seq
MIRT2198652	hsa-miR-548a-5p	CLIP-seq
MIRT2198653	hsa-miR-548ab	CLIP-seq
MIRT2198654	hsa-miR-548ak	CLIP-seq
MIRT2198655	hsa-miR-548b-5p	CLIP-seq
MIRT2198656	hsa-miR-548c-5p	CLIP-seq
MIRT2198657	hsa-miR-548d-5p	CLIP-seq
MIRT2198658	hsa-miR-548h	CLIP-seq
MIRT2198659	hsa-miR-548i	CLIP-seq
MIRT2198660	hsa-miR-548j	CLIP-seq
MIRT2198661	hsa-miR-548w	CLIP-seq
MIRT2198662	hsa-miR-548y	CLIP-seq
MIRT2198663	hsa-miR-559	CLIP-seq
MIRT2198664	hsa-miR-1207-5p	CLIP-seq
MIRT2198665	hsa-miR-1225-3p	CLIP-seq
MIRT2198666	hsa-miR-1233	CLIP-seq
MIRT2198667	hsa-miR-140-5p	CLIP-seq
MIRT1962121	hsa-miR-1827	CLIP-seq
MIRT2198668	hsa-miR-1909	CLIP-seq
MIRT1962122	hsa-miR-1915	CLIP-seq
MIRT2198669	hsa-miR-3919	CLIP-seq
MIRT2198670	hsa-miR-4530	CLIP-seq
MIRT2198671	hsa-miR-4651	CLIP-seq
MIRT884088	hsa-miR-4672	CLIP-seq
MIRT2198672	hsa-miR-4756-3p	CLIP-seq
MIRT2198673	hsa-miR-4763-3p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT2198674	hsa-miR-608	CLIP-seq
MIRT1962144	hsa-miR-922	CLIP-seq
MIRT2198675	hsa-miR-940	CLIP-seq
MIRT1962128	hsa-miR-3127-5p	CLIP-seq
MIRT2385921	hsa-miR-342-5p	CLIP-seq
MIRT2198671	hsa-miR-4651	CLIP-seq
MIRT2385922	hsa-miR-4664-5p	CLIP-seq
MIRT2385923	hsa-miR-491-5p	CLIP-seq
MIRT2198674	hsa-miR-608	CLIP-seq
MIRT884100	hsa-miR-10a	CLIP-seq
MIRT884101	hsa-miR-10b	CLIP-seq
MIRT1962120	hsa-miR-1285	CLIP-seq
MIRT1962129	hsa-miR-3187-5p	CLIP-seq
MIRT2446819	hsa-miR-339-5p	CLIP-seq
MIRT2446820	hsa-miR-3667-5p	CLIP-seq
MIRT2446821	hsa-miR-4421	CLIP-seq
MIRT1962137	hsa-miR-451b	CLIP-seq
MIRT2446822	hsa-miR-4696	CLIP-seq
MIRT884136	hsa-miR-4725-5p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT884147	hsa-miR-504	CLIP-seq
MIRT1962141	hsa-miR-612	CLIP-seq
MIRT1962143	hsa-miR-661	CLIP-seq
MIRT884100	hsa-miR-10a	CLIP-seq
MIRT884101	hsa-miR-10b	CLIP-seq
MIRT2501613	hsa-miR-1283	CLIP-seq
MIRT1962120	hsa-miR-1285	CLIP-seq
MIRT1962129	hsa-miR-3187-5p	CLIP-seq
MIRT2446819	hsa-miR-339-5p	CLIP-seq
MIRT2501614	hsa-miR-3618	CLIP-seq
MIRT2446820	hsa-miR-3667-5p	CLIP-seq
MIRT2446821	hsa-miR-4421	CLIP-seq
MIRT1962137	hsa-miR-451b	CLIP-seq
MIRT2446822	hsa-miR-4696	CLIP-seq
MIRT884136	hsa-miR-4725-5p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT2501615	hsa-miR-494	CLIP-seq
MIRT884147	hsa-miR-504	CLIP-seq
MIRT1962141	hsa-miR-612	CLIP-seq
MIRT1962143	hsa-miR-661	CLIP-seq
MIRT2501616	hsa-miR-934	CLIP-seq
MIRT884100	hsa-miR-10a	CLIP-seq
MIRT884101	hsa-miR-10b	CLIP-seq
MIRT2501613	hsa-miR-1283	CLIP-seq
MIRT1962120	hsa-miR-1285	CLIP-seq
MIRT1962129	hsa-miR-3187-5p	CLIP-seq
MIRT2446819	hsa-miR-339-5p	CLIP-seq
MIRT2501614	hsa-miR-3618	CLIP-seq
MIRT2446820	hsa-miR-3667-5p	CLIP-seq
MIRT2446821	hsa-miR-4421	CLIP-seq
MIRT1962137	hsa-miR-451b	CLIP-seq
MIRT2446822	hsa-miR-4696	CLIP-seq
MIRT884136	hsa-miR-4725-5p	CLIP-seq
MIRT884141	hsa-miR-4786-5p	CLIP-seq
MIRT884147	hsa-miR-504	CLIP-seq
MIRT1962141	hsa-miR-612	CLIP-seq
MIRT1962143	hsa-miR-661	CLIP-seq
MIRT2501616	hsa-miR-934	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	11158314
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	17725984
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17725984
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17725984
GO:0005737	Component	Cytoplasm	IEA
GO:0006376	Process	MRNA splice site recognition	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IMP	17725984
GO:0010467	Process	Gene expression	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030575	Process	Nuclear body organization	IEA
GO:0036002	Function	Pre-mRNA binding	NAS	11158314
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IDA	15009664
GO:0097322	Function	7SK snRNA binding	IEA
GO:0140742	Process	LncRNA transcription	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA

MIM	HGNC	e!Ensembl
612678	11967	ENSG00000159409

Q5SZQ8

Protein name

CUGBP Elav-like family member 3 (CELF-3) (Bruno-like protein 1) (CAG repeat protein 4) (CUG-BP- and ETR-3-like factor 3) (ELAV-type RNA-binding protein 1) (ETR-1) (Expanded repeat domain protein CAG/CTG 4) (RNA-binding protein BRUNOL-1) (Trinucleotide rep

Protein function

RNA-binding protein involved 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 activates

PDB

2DNO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	9 → 78	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	97 → 165	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	382 → 452	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:11158314}.

Sequence

MKEPDAIKLFVGQIPRHLEEKDLKPIFEQFGRIFELTVIKDKYTGLHKGCAFLTYCARDS
ALKAQSALHEQKTLPGMNRPIQVKPADSESRGEDRKLFVGMLGKQQTDEDVRKMFEPFGT
IDECTVLRGPDGTSKGCAFVKFQTHAEAQAAINTLHSSRTLPGASSSLVVKFADTEKERG
LRRMQQVATQLGMFSPIALQFGAYSAYTQALMQQQAALVAAHSAYLSPMATMAAVQMQHM
AAINANGLIATPITPSSGTSTPPAIAATPVSAIPAALGVNGYSPVPTQPTGQPAPDALYP
NGVHPYPAQSPAAPVDPLQQAYAGMQHYTAAYPAAYSLVAPAFPQPPALVAQQPPPPPQQ
QQQQQQQQQQQQQREGPDGCNIFIYHLPQEFTDSEILQMFVPFGHVISAKVFVDRATNQS
KCFGFVSFDNPASAQAAIQAMNGFQIGMKRLKVQLKRPKDANRPY

Sequence length

465

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Lymphoma	Associate	16098063	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	16638930	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	16098063	★★★★★ ★☆☆☆☆ Found in Text Mining only

CELF3 (CUGBP Elav-like family member 3)