CELF4 (CUGBP Elav-like family member 4)

Gene

• Entrez ID: 56853
• Gene name: CUGBP Elav-like family member 4
• Gene symbol: CELF4
• Synonyms (NCBI Gene): BRUNOL4, CELF-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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 612679
• HGNC: 14015
• e!Ensembl: 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
  LPGMNRPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLNKQQSEDDVRRLFEAFGNIEE
  CTILRGPDGNSKGCAFVKYSSHAEAQAAINALHGSQTMPGASSSLVVKFADTDKERTMRR
  MQQMAGQMGMFNPMAIPFGAYGAYAQALMQQQAALMASVAQGGYLNPMAAFAAAQMQQMA
  ALNMNGLAAAPMTPTSGGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFAN
  GIHPYPAQSPTAADPLQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEG
  CNLFIYHLPQEFGDAELMQMFLPFGFVSFDNPASAQTAIQAMNGFQIGMKRLKVQLKRPK
  DANRPY

• Sequence length: 486

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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	BEFREE	26811534		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26811534, 26968791	Associate	★☆☆☆☆ 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