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Aliases for CELF2 Gene

Aliases for CELF2 Gene

  • CUGBP, Elav-Like Family Member 2 2 3 5
  • 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
  • BRUNOL3 3 4
  • CUG-BP2 3 4
  • CUGBP2 3 4
  • CELF-2 3 4
  • NAPOR 3 4
  • ETR-3 3 4
  • ETR3 3 4
  • CUG Triplet Repeat, RNA-Binding Protein 2 2
  • CUG Triplet Repeat, RNA Binding Protein 2 2
  • HNAPOR 4

External Ids for CELF2 Gene

Previous HGNC Symbols for CELF2 Gene

  • CUGBP2

Previous GeneCards Identifiers for CELF2 Gene

  • GC10P011048
  • GC10P010966
  • GC10P011049
  • GC10P010796

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 nucleic acid binding and RNA binding. An important paralog of this gene is CELF4.

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

Regulatory Elements for CELF2 Gene

Promoters for CELF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CELF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CELF2 Gene

Chromosome:
10
Start:
11,004,641 bp from pter
End:
11,336,675 bp from pter
Size:
332,035 bases
Orientation:
Plus strand

Genomic View for CELF2 Gene

Genes around CELF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 94 and Lys 190
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CELF2 Gene

Domains & Families for CELF2 Gene

Gene Families for CELF2 Gene

Protein Domains for CELF2 Gene

Graphical View of Domain Structure for InterPro Entry

O95319

UniProtKB/Swiss-Prot:

CELF2_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 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:0003723 RNA binding IEA,TAS 9887331
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with CELF2: view
genes like me logo Genes that share phenotypes with CELF2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CELF2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytoskeleton 2
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CELF2 Gene

Pathways & Interactions 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 IEA --
genes like me logo Genes that share ontologies with CELF2: view

No data available for SIGNOR curated interactions for CELF2 Gene

Drugs & Compounds for CELF2 Gene

(3) Drugs for CELF2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dinoprostone Approved Pharma Major endogenous prostanoid 74
Cytidine Experimental Pharma 0
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 (x5.9).

Protein differential expression in normal tissues from HIPED for CELF2 Gene

This gene is overexpressed in Lymph node (13.1), Heart (7.9), and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CELF2: view

Protein tissue co-expression partners for CELF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CELF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CELF2 35
  • 95.05 (n)
  • 99.59 (a)
CELF2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Celf2 35
  • 94.69 (n)
  • 99.8 (a)
Celf2 16
Celf2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CELF2 35
  • 99.73 (n)
  • 100 (a)
CELF2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Celf2 35
  • 95.03 (n)
  • 99.8 (a)
cow
(Bos Taurus)
Mammalia CELF2 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELF2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELF2 35
  • 89.41 (n)
  • 97.95 (a)
CELF2 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELF2 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celf2 35
  • 87.56 (n)
  • 97.84 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
celf2 35
  • 79.52 (n)
  • 92.16 (a)
celf2 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bru-2 35
  • 57.59 (n)
  • 58.69 (a)
aret 36
  • 31 (a)
ManyToMany
bru-2 36
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea etr-1 35
  • 50.99 (n)
  • 49.67 (a)
etr-1 36
  • 38 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.13049 35
wheat
(Triticum aestivum)
Liliopsida Ta.18709 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7203 36
  • 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
VAR_052202 -
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
rs596406 -- 11,182,702(+) CCTTT(C/T)AATTA 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

Variation tolerance for CELF2 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELF2 Gene

HapMap Linkage Disequilibrium report
CELF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF2 Gene

Disorders for CELF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CELF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search CELF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CELF2

Genetic Association Database (GAD)
CELF2
Human Genome Epidemiology (HuGE) Navigator
CELF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELF2
genes like me logo Genes that share disorders with CELF2: view

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

Publications for CELF2 Gene

  1. 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 67
  2. 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
  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. 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 23
  5. Developmentally-regulated expression of mNapor encoding an apoptosis- induced ELAV-type RNA binding protein. (PMID: 10524244) Choi D.-K. … Sakaki Y. (Gene 1999) 3 23

Products for CELF2 Gene

Sources for CELF2 Gene

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