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-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript ... See more...

Aliases for CELF3 Gene

Aliases for CELF3 Gene

  • CUGBP Elav-Like Family Member 3 2 3 4 5
  • BRUNOL1 2 3 4
  • CAGH4 2 3 4
  • ERDA4 2 3 4
  • Trinucleotide Repeat-Containing Gene 4 Protein 3 4
  • Expanded Repeat Domain Protein CAG/CTG 4 3 4
  • Expanded Repeat Domain, CAG/CTG 4 2 3
  • Trinucleotide Repeat Containing 4 2 3
  • CUG-BP- And ETR-3-Like Factor 3 3 4
  • ELAV-Type RNA-Binding Protein 1 3 4
  • RNA-Binding Protein BRUNOL-1 3 4
  • CAG Repeat Protein 4 3 4
  • Bruno-Like Protein 1 3 4
  • CAG Repeat Domain 2 3
  • ETR-1 3 4
  • TNRC4 3 4
  • CUGBP, Elav-Like Family Member 3 2
  • CUG-BP And ETR-3 Like Factor 3 2
  • MGC57297 2
  • CELF-3 4
  • CELF3 5

External Ids for CELF3 Gene

Previous HGNC Symbols for CELF3 Gene

  • TNRC4

Previous GeneCards Identifiers for CELF3 Gene

  • GC01M123049

Summaries for CELF3 Gene

Entrez Gene Summary for CELF3 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-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

GeneCards Summary for CELF3 Gene

CELF3 (CUGBP Elav-Like Family Member 3) is a Protein Coding gene. Diseases associated with CELF3 include Speech And Communication Disorders and Specific Language Impairment. Among its related pathways are Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is CELF6.

UniProtKB/Swiss-Prot Summary for CELF3 Gene

  • 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 exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Additional gene information for CELF3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELF3 Gene

Genomics for CELF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CELF3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELF3

Genomic Locations for CELF3 Gene

Genomic Locations for CELF3 Gene
chr1:151,696,652-151,716,821
(GRCh38/hg38)
Size:
20,170 bases
Orientation:
Minus strand
chr1:151,672,534-151,689,290
(GRCh37/hg19)
Size:
16,757 bases
Orientation:
Minus strand

Genomic View for CELF3 Gene

Genes around CELF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF3 Gene

Proteins for CELF3 Gene

  • Protein details for CELF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZQ8-CELF3_HUMAN
    Recommended name:
    CUGBP Elav-like family member 3
    Protein Accession:
    Q5SZQ8
    Secondary Accessions:
    • B7ZKK6
    • O15414
    • Q499Y6
    • Q5SZQ7
    • Q6NVK0
    • Q8IZ98
    • Q9BZC2
    • Q9HB30

    Protein attributes for CELF3 Gene

    Size:
    465 amino acids
    Molecular mass:
    50548 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB91444.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF3 Gene

    Alternative splice isoforms for CELF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF3 Gene

Post-translational modifications for CELF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CELF3 Gene

Domains & Families for CELF3 Gene

Gene Families for CELF3 Gene

Protein Domains for CELF3 Gene

Suggested Antigen Peptide Sequences for CELF3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51939, highly similar to Homo sapiens trinucleotide repeat containing 4 (TNRC4), mRNA (B4DQL3_HUMAN)
  • Trinucleotide repeat-containing gene 4 protein (CELF3_HUMAN)
  • CAGH4 alternate open reading frame (O15419_HUMAN)
  • Trinucleotide repeat containing 4 (Q5SZQ6_HUMAN)
  • CUG-BP and ETR-3 like factor 3 (Q8IZ97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5SZQ8

UniProtKB/Swiss-Prot:

CELF3_HUMAN :
  • Belongs to the CELF/BRUNOL family.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF3: view

Function for CELF3 Gene

Molecular function for CELF3 Gene

UniProtKB/Swiss-Prot 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 exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Phenotypes From GWAS Catalog for CELF3 Gene

Gene Ontology (GO) - Molecular Function for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IMP 17725984
GO:0003729 mRNA binding IBA 21873635
GO:0036002 pre-mRNA binding NAS 11158314
GO:0097322 7SK snRNA binding IEA --
genes like me logo Genes that share ontologies with CELF3: view
genes like me logo Genes that share phenotypes with CELF3: view

Animal Models for CELF3 Gene

MGI Knock Outs for CELF3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELF3 Gene

Localization for CELF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF3 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELF3 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 17725984
GO:0005737 cytoplasm IBA,IDA 17725984
GO:0016604 nuclear body IEA --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with CELF3: view

Pathways & Interactions for CELF3 Gene

PathCards logo

SuperPathways for CELF3 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with CELF3: view

Pathways by source for CELF3 Gene

1 BioSystems pathway for CELF3 Gene

Gene Ontology (GO) - Biological Process for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 11158314
GO:0006376 mRNA splice site selection IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0007283 spermatogenesis IEA --
GO:0008380 RNA splicing IMP 17725984
genes like me logo Genes that share ontologies with CELF3: view

No data available for SIGNOR curated interactions for CELF3 Gene

Drugs & Compounds for CELF3 Gene

No Compound Related Data Available

Transcripts for CELF3 Gene

mRNA/cDNA for CELF3 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELF3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for CELF3 Gene

GeneLoc Exon Structure for
CELF3

Expression for CELF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CELF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELF3 Gene

This gene is overexpressed in Pituitary (x7.3), Brain - Cerebellum (x5.2), Brain - Cerebellar Hemisphere (x4.7), Brain - Cortex (x4.3), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for CELF3 Gene

This gene is overexpressed in Retina (60.2) and Islet of Langerhans (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CELF3 Gene



Protein tissue co-expression partners for CELF3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CELF3

SOURCE GeneReport for Unigene cluster for CELF3 Gene:

Hs.26047

mRNA Expression by UniProt/SwissProt for CELF3 Gene:

Q5SZQ8-CELF3_HUMAN
Tissue specificity: Expressed in brain.

Evidence on tissue expression from TISSUES for CELF3 Gene

  • Nervous system(4.6)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with CELF3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CELF3 Gene

Orthologs for CELF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CELF3 30 31
  • 98.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CELF3 30 31
  • 96.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CELF3 30 31
  • 95.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Celf3 30 17 31
  • 94.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Celf3 30
  • 93.76 (n)
Oppossum
(Monodelphis domestica)
Mammalia CELF3 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CELF3 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CELF3 30 31
  • 83.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CELF3 31
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68437 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.15393 30
Zebrafish
(Danio rerio)
Actinopterygii celf3a 30 31
  • 77.65 (n)
OneToMany
celf3b 31
  • 77 (a)
OneToMany
CELF3 (3 of 3) 31
  • 41 (a)
OneToMany
etr1 30
Fruit Fly
(Drosophila melanogaster)
Insecta bru-3 31
  • 55 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-75 31
  • 49 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8737 31
  • 41 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3573 30
Species where no ortholog for CELF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CELF3 Gene

ENSEMBL:
Gene Tree for CELF3 (if available)
TreeFam:
Gene Tree for CELF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CELF3: view image

Paralogs for CELF3 Gene

Paralogs for CELF3 Gene

(14) SIMAP similar genes for CELF3 Gene using alignment to 4 proteins:

  • CELF3_HUMAN
  • B4DQL3_HUMAN
  • H0Y623_HUMAN
  • Q8IZ97_HUMAN
genes like me logo Genes that share paralogs with CELF3: view

Variants for CELF3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CELF3 Gene

CELF3_HUMAN-Q5SZQ8
The poly-Gln tract in AAK07474 may be polymorphic.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELF3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
691420 Likely Pathogenic: Pyloric stenosis; Esophageal atresia 151,709,259(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CELF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CELF3 Gene

Variant ID Type Subtype PubMed ID
nsv952176 CNV deletion 24416366

Variation tolerance for CELF3 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CELF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF3

SNP Genotyping and Copy Number Assay Products

Disorders for CELF3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CELF3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
speech and communication disorders
  • communication disorder
specific language impairment
  • language impairment, specific
reading disorder
  • dyslexia
atrial septal defect 1
  • asd1
articulation disorder
  • articulation impairment
- elite association - COSMIC cancer census association via MalaCards
Search CELF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELF3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CELF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CELF3 Gene

Publications for CELF3 Gene

  1. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis RL … Ross CA (Human genetics 1997) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. (PMID: 17725984) Chapple JP … Gallo JM (Human molecular genetics 2007) 3 23
  4. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. (PMID: 15009664) Wang J … Andreadis A (Journal of neurochemistry 2004) 3 4
  5. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. (PMID: 11158314) Ladd AN … Cooper TA (Molecular and cellular biology 2001) 3 4

Products for CELF3 Gene

  • Signalway ELISA kits for CELF3

Sources for CELF3 Gene