Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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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

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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	154 → 222	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	56 → 125	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

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (27)
ALZHEIMER DISEASE	—	GWAS catalog	34743297	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	39024449, 39294497	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	40229280	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	40229280	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELF4-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	40155373	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	37196047	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	34187846	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	37085903, 40155373	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29292387, 29662059, 29942085, 30643256, 30718901, 32231276, 32606422, 33479212, 33859377, 34045744, 34586374, 34924174, 35898629, 36750733, 37464041, 37985818, 38177345	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	36292730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar GenCC	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	40108438	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	27089181, 29255261, 29942085, 30595370, 30643256, 32231276, 36244801	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	31374203, 36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	36292730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (27)
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28407444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28407444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	22617346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26811534, 26968791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26811534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32828126, 33930674, 34080453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	31148553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40226707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23626757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23626757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27507616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23209433, 30613944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	40226707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33765507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30903111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	40226707	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language Disorders	BEFREE	31769539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29559929, 29662059, 29942085, 30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27507616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18521091		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23209433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22617346		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	22617346, 30903111	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	22617346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	29559929		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
YLPM1	4	["Anxiety disorder","Mood disorder","Gastroesophageal reflux disease","Irritable bowel syndrome"]	[]	4	["GWAS catalog (Anxiety disorder)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Mood disorder)"]
PHF2	3	["Mood disorder","Gastroesophageal reflux disease","Irritable bowel syndrome"]	[]	3	["GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Mood disorder)"]
UNC79	2	["Gastroesophageal reflux disease","Irritable bowel syndrome"]	[]	3	["GenCC (Neurodevelopmental disorder)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)"]
NCAM1	4	["Anxiety disorder","Mood disorder","Gastroesophageal reflux disease","Irritable bowel syndrome"]	[]	4	["GWAS catalog (Anxiety disorder)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Mood disorder)"]
SORCS3	4	["Anxiety disorder","Mood disorder","Gastroesophageal reflux disease","Irritable bowel syndrome"]	[]	5	["GWAS catalog (Anxiety disorder)","GenCC (Neurodevelopmental disorder)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Mood disorder)"]

CELF4 (CUGBP Elav-like family member 4)

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