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Aliases for CELF3 Gene

Aliases for CELF3 Gene

  • CUGBP Elav-Like Family Member 3 2 3 3 5
  • 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
  • Bruno-Like Protein 1 3 4
  • CAG Repeat Protein 4 3 4
  • CAG Repeat Domain 2 3
  • BRUNOL1 3 4
  • TNRC4 3 4
  • CAGH4 3 4
  • ERDA4 3 4
  • ETR-1 3 4
  • CUGBP, Elav-Like Family Member 3 2
  • CUG-BP And ETR-3 Like Factor 3 2
  • CELF-3 4

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. 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 ENSG00000273025.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CELF3 Gene

Genomics for CELF3 Gene

GeneHancer (GH) Regulatory Elements for CELF3 Gene

Promoters and enhancers for CELF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J151712 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.5 1544 6.3 PKNOX1 ARNT SIN3A ZBTB7B YY1 E2F8 ZNF143 KLF13 ZNF263 SP3 CELF3 SETDB1 PIP5K1A ZNF687 PI4KB UBE2D3P3 SNX27 GABPB2 MRPL9 ARNT
GH01J151610 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +104.7 104722 3.5 HDGF PKNOX1 SMAD1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ENSG00000250734 SNX27 SETDB1 PIP5K1A ZNF687 ARNT CTSK PI4KB C1orf56 UBE2D3P3
GH01J151537 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 +176.6 176615 7.3 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 TUFT1 ENSG00000232536 PIP5K1A SETDB1 MRPL9 POGZ CGN LYSMD1 PRUNE1 SNX27
GH01J151494 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.3 +221.7 221692 1.5 PKNOX1 SIN3A FEZF1 ZNF2 IRF4 ZNF213 ATF7 FOS RUNX3 KLF13 POGZ LYSMD1 ENSG00000252840 TUFT1 MIR554 RPS10P6 ENSG00000232536 ENSG00000227045 RIIAD1 CELF3
GH01J151606 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.8 +109.8 109818 1.9 PKNOX1 CLOCK MZF1 SIN3A RFX5 ZNF335 ZNF121 ZNF366 SCRT2 FOS TUFT1 RPS10P6 MIR554 ENSG00000252840 ENSG00000227045 CGN RIIAD1 CELF3 ENSG00000232536 ENSG00000232937
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for CELF3 Gene

Genomic Locations for CELF3 Gene
chr1:151,700,052-151,716,821
(GRCh38/hg38)
Size:
16,770 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; Positions=136; 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

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.

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: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

miRNA for CELF3 Gene

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 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 IDA,IEA 17725984
GO:0005737 cytoplasm IEA,IDA 17725984
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with CELF3: view

Pathways & Interactions for CELF3 Gene

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:0006397 mRNA processing IEA --
GO:0007283 spermatogenesis IEA --
GO:0008380 RNA splicing IMP 17725984
GO:0030317 flagellated sperm motility IEA --
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

Unigene Clusters for CELF3 Gene

CUGBP, Elav-like family member 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CELF3

Expression for CELF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CELF3 Gene:

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(4.5)
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 34 33
  • 98.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CELF3 34 33
  • 96.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CELF3 34 33
  • 95.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Celf3 16 34 33
  • 94.25 (n)
rat
(Rattus norvegicus)
Mammalia Celf3 33
  • 93.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CELF3 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF3 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELF3 34 33
  • 83.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELF3 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15393 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68437 33
zebrafish
(Danio rerio)
Actinopterygii celf3a 34 33
  • 77.65 (n)
OneToMany
celf3b 34
  • 77 (a)
OneToMany
CELF3 (3 of 3) 34
  • 41 (a)
OneToMany
etr1 33
fruit fly
(Drosophila melanogaster)
Insecta bru-3 34
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-75 34
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 34
  • 41 (a)
OneToMany
Cin.3573 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3573 33
Species where no ortholog for CELF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 from dbSNP and Humsavar for CELF3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000079312 -- 151,716,616(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000306906 -- 151,701,975(-) G/A 3_prime_UTR_variant
rs1000538476 -- 151,704,347(-) T/A intron_variant
rs1000554424 -- 151,716,245(-) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1001066102 -- 151,714,159(-) C/T genic_upstream_transcript_variant, intron_variant

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

Additional Disease Information for CELF3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CELF3 Gene.

No data available for MalaCards , 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 58
  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 44 58
  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 22 58
  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 58
  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 58

Products for CELF3 Gene

Sources for CELF3 Gene

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