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Aliases for CELF2 Gene

Aliases for CELF2 Gene

  • CUGBP, Elav-Like Family Member 2 2 3
  • BRUNOL3 3 4 6
  • CUGBP2 3 4 6
  • ETR3 3 4 6
  • Neuroblastoma Apoptosis-Related RNA-Binding Protein 3 4
  • CUG Triplet Repeat RNA-Binding Protein 2 3 4
  • CUG-BP- And ETR-3-Like Factor 2 3 4
  • ELAV-Type RNA-Binding Protein 3 3 4
  • RNA-Binding Protein BRUNOL-3 3 4
  • Bruno-Like Protein 3 3 4
  • CUG-BP2 3 4
  • CELF-2 3 4
  • NAPOR 3 4
  • ETR-3 3 4
  • CUG Triplet Repeat, RNA-Binding Protein 2 2
  • CUG Triplet Repeat, RNA Binding Protein 2 2
  • CUGBP Elav-Like Family Member 2 3
  • HNAPOR 4

External Ids for CELF2 Gene

Previous Symbols for CELF2 Gene

  • CUGBP2

Summaries for CELF2 Gene

Entrez Gene Summary for CELF2 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for CELF2 Gene

CELF2 (CUGBP, Elav-Like Family Member 2) is a Protein Coding gene. Diseases associated with CELF2 include neuroblastoma. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is CELF5.

UniProtKB/Swiss-Prot for CELF2 Gene

  • RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. 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 TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity).

Gene Wiki entry for CELF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF2 Gene

Genomics for CELF2 Gene

Genomic Location for CELF2 Gene

Start:
10,796,888 bp from pter
End:
11,336,675 bp from pter
Size:
539,788 bases
Orientation:
Plus strand

Genomic View for CELF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CELF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF2 Gene

No data available for Regulatory Elements for CELF2 Gene

Proteins for CELF2 Gene

  • Protein details for CELF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95319-CELF2_HUMAN
    Recommended name:
    CUGBP Elav-like family member 2
    Protein Accession:
    O95319
    Secondary Accessions:
    • B7ZAN9
    • Q7KYU4
    • Q8N499
    • Q92950
    • Q96NW9
    • Q96RQ5
    • Q96RQ6
    • Q9UL67

    Protein attributes for CELF2 Gene

    Size:
    508 amino acids
    Molecular mass:
    54285 Da
    Quaternary structure:
    • Interacts with A1CF.

    Three dimensional structures from OCA and Proteopedia for CELF2 Gene

    Alternative splice isoforms for CELF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF2 Gene

Proteomics data for CELF2 Gene at MOPED

Post-translational modifications for CELF2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys83, Lys94, Lys190, and Lys458

No data available for DME Specific Peptides for CELF2 Gene

Domains for CELF2 Gene

Gene Families for CELF2 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for CELF2 Gene

UniProtKB/Swiss-Prot:

CELF2_HUMAN
Domain:
  • Contains 3 RRM (RNA recognition motif) domains.:
    • O95319
Family:
  • Belongs to the CELF/BRUNOL family.:
    • O95319
genes like me logo Genes that share domains with CELF2: view

Function for CELF2 Gene

Molecular function for CELF2 Gene

UniProtKB/Swiss-Prot Function: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. 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 TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity).

Gene Ontology (GO) - Molecular Function for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding TAS 9887331
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with CELF2: view

Phenotypes for CELF2 Gene

GenomeRNAi human phenotypes for CELF2:
genes like me logo Genes that share phenotypes with CELF2: view

miRNA for CELF2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CELF2 Gene

Localization for CELF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF2 Gene

Nucleus. Cytoplasm. Note=Accumulates in the cytoplasm after ionizing radiation (By similarity). Colocalizes with APOBEC1 and A1CF. RNA-binding activity is detected in both nuclear and cytoplasmic compartments. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CELF2 Gene COMPARTMENTS Subcellular localization image for CELF2 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CELF2: view

Pathways for CELF2 Gene

SuperPathways for CELF2 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with CELF2: view

Pathways by source for CELF2 Gene

1 BioSystems pathway for CELF2 Gene

Interacting Proteins for CELF2 Gene

Selected Interacting proteins: O95319-CELF2_HUMAN for CELF2 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection --
GO:0006396 RNA processing TAS 9887331
GO:0006397 mRNA processing IEA --
GO:0008016 regulation of heart contraction TAS 9887331
genes like me logo Genes that share ontologies with CELF2: view

Compounds for CELF2 Gene

(2) HMDB Compounds for CELF2 Gene

Compound Synonyms Cas Number PubMed IDs
Cytidine
  • 1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine
65-46-3
Prostaglandin E2
  • (-)-Prostaglandin E2
363-24-6

(1) Novoseek inferred chemical compound relationships for CELF2 Gene

Compound -log(P) Hits PubMed IDs
iron 6.11 1
genes like me logo Genes that share compounds with CELF2: view

Transcripts for CELF2 Gene

Unigene Clusters for CELF2 Gene

CUGBP, Elav-like family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CELF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - -
SP6: - - - -
SP7: -
SP8:

Relevant External Links for CELF2 Gene

GeneLoc Exon Structure for
CELF2
ECgene alternative splicing isoforms for
CELF2

Expression for CELF2 Gene

mRNA expression in normal human tissues for CELF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELF2 Gene

This gene is overexpressed in Whole Blood (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CELF2 Gene

SOURCE GeneReport for Unigene cluster for CELF2 Gene Hs.309288

mRNA Expression by UniProt/SwissProt for CELF2 Gene

O95319-CELF2_HUMAN
Tissue specificity: Expressed in frontal cortex. Isoform 1 is expressed in brain and lung. Isoform 2 is expressed in heart, brain, placenta, lung, liver, kidney, skeletal muscle and pancreas. Isoform 4 is expressed in heart, lung, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expressions with CELF2: view

Orthologs for CELF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELF2 36
  • 99.73 (n)
  • 100 (a)
CELF2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CELF2 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CELF2 36
  • 95.05 (n)
  • 99.59 (a)
CELF2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Celf2 36
  • 94.69 (n)
  • 99.8 (a)
Celf2 16
Celf2 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELF2 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF2 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Celf2 36
  • 95.03 (n)
  • 99.8 (a)
chicken
(Gallus gallus)
Aves CELF2 36
  • 89.41 (n)
  • 97.95 (a)
CELF2 37
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELF2 37
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celf2 36
  • 87.56 (n)
  • 97.84 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
celf2 36
  • 79.52 (n)
  • 92.16 (a)
celf2 37
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta aret 37
  • 31 (a)
ManyToMany
bru-2 36
  • 57.59 (n)
  • 58.69 (a)
bru-2 37
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea etr-1 36
  • 50.99 (n)
  • 49.67 (a)
etr-1 37
  • 38 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.13049 36
wheat
(Triticum aestivum)
Liliopsida Ta.18709 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7203 37
  • 52 (a)
OneToMany
Species with no ortholog for CELF2:
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CELF2 Gene

ENSEMBL:
Gene Tree for CELF2 (if available)
TreeFam:
Gene Tree for CELF2 (if available)

Paralogs for CELF2 Gene

Paralogs for CELF2 Gene

genes like me logo Genes that share paralogs with CELF2: view

Variants for CELF2 Gene

Sequence variations from dbSNP and Humsavar for CELF2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1990 -- 11,277,920(-) GCAGA(C/G)ATCAT intron-variant
rs3243 -- 11,195,965(-) TTTTG(C/T)CATGT intron-variant
rs20407 -- 11,110,880(+) AGCAA(A/G)GCCCT intron-variant
rs62209 -- 10,958,376(+) GGAGA(G/T)GGAAG intron-variant
rs87790 -- 11,010,038(+) CCTTC(C/T)TGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CELF2 Gene

Variant ID Type Subtype PubMed ID
nsv437658 CNV Loss 16327808
nsv5798 CNV Insertion 18451855
esv23060 CNV Loss 19812545
nsv438164 CNV Loss 16468122
esv275337 CNV Gain+Loss 21479260
nsv513005 CNV Insertion 21212237
esv2495762 CNV Insertion 19546169
esv2732918 CNV Deletion 23290073
nsv24299 CNV Insertion 16902084
nsv523553 CNV Loss 19592680
nsv509343 CNV Insertion 20534489
esv2732929 CNV Deletion 23290073
esv1683473 CNV Deletion 17803354
esv1301187 CNV Insertion 17803354
nsv507539 CNV Insertion 20534489
esv2732940 CNV Deletion 23290073
esv2043576 CNV Deletion 18987734
esv2732951 CNV Deletion 23290073

Relevant External Links for CELF2 Gene

HapMap Linkage Disequilibrium report
CELF2

Disorders for CELF2 Gene

(1) MalaCards Diseases for CELF2 Gene

Search for CELF2 Gene in MalaCards »

(2) Novoseek inferred disease relationships for CELF2 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 52.1 1
tumors 0 1

Relevant External Links for CELF2

Genetic Association Database (GAD)
CELF2
Human Genome Epidemiology (HuGE) Navigator
CELF2
genes like me logo Genes that share disorders with CELF2: view

No data available for UniProtKB/Swiss-Prot for CELF2 Gene

Publications for CELF2 Gene

  1. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. (PMID: 9887331) Lu X. … Timchenko L.T. (Hum. Mol. Genet. 1999) 2 3 23
  2. Developmentally-regulated expression of mNapor encoding an apoptosis- induced ELAV-type RNA binding protein. (PMID: 10524244) Choi D.-K. … Sakaki Y. (Gene 1999) 3 4 23
  3. 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) 3 4 23
  4. Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. (PMID: 11414768) Li D. … Roberts R. (Genomics 2001) 3 4 23
  5. Identification of CELF splicing activation and repression domains in vivo. (PMID: 15894795) Han J. … Cooper T.A. (Nucleic Acids Res. 2005) 3 4 23

Products for CELF2 Gene

Sources for CELF2 Gene

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