Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CELF4 Gene

Aliases for CELF4 Gene

  • CUGBP, Elav-Like Family Member 4 2 3 5
  • CUG-BP- And ETR-3-Like Factor 4 3 4
  • Bruno-Like Protein 4 3 4
  • BRUNOL4 3 4
  • CELF-4 3 4
  • Bruno (Drosophila) -Like 4, RNA Binding Protein 2
  • Bruno-Like 4, RNA Binding Protein (Drosophila) 2
  • Bruno-Like 4, RNA Binding Protein 3
  • CUG-BP And ETR-3 Like Factor 4 3
  • LYST-Interacting Protein LIP9 3
  • RNA-Binding Protein BRUNOL-4 4
  • RNA-Binding Protein BRUNOL4 3

External Ids for CELF4 Gene

Previous HGNC Symbols for CELF4 Gene

  • BRUNOL4

Previous GeneCards Identifiers for CELF4 Gene

  • GC18M034823
  • GC18M031681
  • GC18M037243

Summaries for CELF4 Gene

Entrez Gene Summary for CELF4 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 transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CELF4 Gene

CELF4 (CUGBP, Elav-Like Family Member 4) is a Protein Coding gene. Diseases associated with CELF4 include seizure disorder and benign epilepsy with centrotemporal spikes. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is CELF2.

UniProtKB/Swiss-Prot for CELF4 Gene

  • 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 activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. 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 Wiki entry for CELF4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF4 Gene

Genomics for CELF4 Gene

Genomic Location for CELF4 Gene

Chromosome:
18
Start:
37,190,090 bp from pter
End:
37,566,037 bp from pter
Size:
375,948 bases
Orientation:
Minus strand

Genomic View for CELF4 Gene

Genes around CELF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF4 Gene

No data available for Regulatory Elements for CELF4 Gene

Proteins for CELF4 Gene

  • Protein details for CELF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZC1-CELF4_HUMAN
    Recommended name:
    CUGBP Elav-like family member 4
    Protein Accession:
    Q9BZC1
    Secondary Accessions:
    • Q59EN7
    • Q86XB9
    • Q8N2M6
    • Q9BQ96
    • Q9NR84
    • Q9NR85

    Protein attributes for CELF4 Gene

    Size:
    486 amino acids
    Molecular mass:
    51966 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD93011.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF4 Gene

    Alternative splice isoforms for CELF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF4 Gene

Proteomics data for CELF4 Gene at MOPED

Post-translational modifications for CELF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CELF4 Gene

Domains & Families for CELF4 Gene

Gene Families for CELF4 Gene

Protein Domains for CELF4 Gene

Suggested Antigen Peptide Sequences for CELF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZC1

UniProtKB/Swiss-Prot:

CELF4_HUMAN :
  • Contains 3 RRM (RNA recognition motif) domains.
  • Belongs to the CELF/BRUNOL family.
Domain:
  • Contains 3 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF4: view

Function for CELF4 Gene

Molecular function for CELF4 Gene

UniProtKB/Swiss-Prot 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 activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. 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 CELF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000900 translation repressor activity, nucleic acid binding NAS 10893231
GO:0003729 mRNA binding IEA --
genes like me logo Genes that share ontologies with CELF4: view
genes like me logo Genes that share phenotypes with CELF4: view

Animal Models for CELF4 Gene

MGI Knock Outs for CELF4:

Animal Model Products

CRISPR Products

miRNA for CELF4 Gene

miRTarBase miRNAs that target CELF4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELF4 Gene

Localization for CELF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF4 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CELF4 Gene COMPARTMENTS Subcellular localization image for CELF4 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CELF4 Gene

Pathways & Interactions for CELF4 Gene

SuperPathways for CELF4 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with CELF4: view

Pathways by source for CELF4 Gene

1 BioSystems pathway for CELF4 Gene

Gene Ontology (GO) - Biological Process for CELF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IDA 19720736
GO:0006376 mRNA splice site selection IEA --
GO:0017148 negative regulation of translation NAS 10893231
GO:0090394 negative regulation of excitatory postsynaptic potential IEA --
genes like me logo Genes that share ontologies with CELF4: view

No data available for SIGNOR curated interactions for CELF4 Gene

Drugs & Compounds for CELF4 Gene

(1) Drugs for CELF4 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iloperidone Approved Pharma Antagonist Dopamine (D2) and serotonin (5HT2) receptor antagonist 0
genes like me logo Genes that share compounds with CELF4: view

Transcripts for CELF4 Gene

Unigene Clusters for CELF4 Gene

CUGBP, Elav-like family member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CELF4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - -
SP6: -
SP7: - -
SP8:
SP9: -

Relevant External Links for CELF4 Gene

GeneLoc Exon Structure for
CELF4
ECgene alternative splicing isoforms for
CELF4

Expression for CELF4 Gene

mRNA expression in normal human tissues for CELF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELF4 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.5), Brain - Cerebellar Hemisphere (x4.8), Brain - Amygdala (x4.5), Brain - Cerebellum (x4.2), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for CELF4 Gene

This gene is overexpressed in Fetal Brain (60.4) and Retina (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELF4 Gene



SOURCE GeneReport for Unigene cluster for CELF4 Gene Hs.435976

mRNA Expression by UniProt/SwissProt for CELF4 Gene

Q9BZC1-CELF4_HUMAN
Tissue specificity: Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes.
genes like me logo Genes that share expression patterns with CELF4: view

Protein tissue co-expression partners for CELF4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CELF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELF4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CELF4 35
  • 96.49 (n)
  • 99.79 (a)
BRUNOL4 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CELF4 35
  • 92.41 (n)
  • 93.88 (a)
mouse
(Mus musculus)
Mammalia Celf4 35
  • 95.11 (n)
  • 98.76 (a)
Celf4 16
Celf4 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CELF4 35
  • 98.77 (n)
  • 98.85 (a)
CELF4 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELF4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF4 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELF4 35
  • 84 (n)
  • 96.41 (a)
-- 36
  • 85 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CELF4 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celf4 35
  • 85.22 (n)
  • 95.99 (a)
zebrafish
(Danio rerio)
Actinopterygii celf4 35
  • 80.7 (n)
  • 89.69 (a)
celf4 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bru-3 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-75 36
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 36
  • 41 (a)
OneToMany
Species with no ortholog for CELF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rat (Rattus norvegicus)
  • 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 CELF4 Gene

ENSEMBL:
Gene Tree for CELF4 (if available)
TreeFam:
Gene Tree for CELF4 (if available)

Paralogs for CELF4 Gene

Paralogs for CELF4 Gene

genes like me logo Genes that share paralogs with CELF4: view

Variants for CELF4 Gene

Sequence variations from dbSNP and Humsavar for CELF4 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs12458669 - 37,266,536(+) ACGAC(C/T)TGCAT nc-transcript-variant, reference, missense
rs484156 -- 37,391,122(-) CCAGG(A/G)GGTCC intron-variant
rs488797 -- 37,390,664(-) AGTAA(A/G)TATTT intron-variant
rs536374 -- 37,337,996(-) TAGTG(A/G)TGACA intron-variant
rs536902 -- 37,377,368(+) GGAGC(A/T)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CELF4 Gene

Variant ID Type Subtype PubMed ID
nsv909547 CNV Gain 21882294
nsv833621 CNV Loss 17160897
esv2562764 CNV Insertion 19546169
nsv513493 CNV Insertion 21212237
nsv527900 CNV Loss 19592680
nsv518594 CNV Gain 19592680
esv2716966 CNV Deletion 23290073
esv4383 CNV Deletion 18987735
esv21448 CNV Loss 19812545
esv2716967 CNV Deletion 23290073
dgv59n6 CNV Loss 16902084
nsv833622 CNV Loss 17160897
nsv458053 CNV Loss 19166990
esv2716968 CNV Deletion 23290073
nsv509689 CNV Insertion 20534489
esv2716969 CNV Deletion 23290073
esv2716970 CNV Deletion 23290073
esv2716971 CNV Deletion 23290073
nsv458055 CNV Loss 19166990
esv2716972 CNV Deletion 23290073
esv1711446 CNV Insertion 17803354
nsv524947 CNV Loss 19592680
nsv2259 CNV Loss 18451855
esv34087 CNV Loss 18971310

Variation tolerance for CELF4 Gene

Residual Variation Intolerance Score: 9.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELF4 Gene

HapMap Linkage Disequilibrium report
CELF4
Human Gene Mutation Database (HGMD)
CELF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF4 Gene

Disorders for CELF4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CELF4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
seizure disorder
  • epilepsy
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search CELF4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CELF4

Genetic Association Database (GAD)
CELF4
Human Genome Epidemiology (HuGE) Navigator
CELF4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELF4
genes like me logo Genes that share disorders with CELF4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CELF4 Gene

Publications for CELF4 Gene

  1. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PMID: 10893231) Good P.J. … Herring D.C. (J. Biol. Chem. 2000) 2 3 4 67
  2. Prognostic relevance of DNA copy number changes in colorectal cancer. (PMID: 19911421) Poulogiannis G. … Arends M.J. (J. Pathol. 2010) 3 23
  3. Identification of CELF splicing activation and repression domains in vivo. (PMID: 15894795) Han J. … Cooper T.A. (Nucleic Acids Res. 2005) 3 23
  4. ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. (PMID: 14973222) Singh G. … Cooper T.A. (Nucleic Acids Res. 2004) 3 23
  5. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PMID: 11158314) Ladd A.N. … Cooper T.A. (Mol. Cell. Biol. 2001) 3 23

Products for CELF4 Gene

Sources for CELF4 Gene

Back to Top

Content