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 t... See more...

Aliases for CELF2 Gene

Aliases for CELF2 Gene

  • CUGBP Elav-Like Family Member 2 2 3 4 5
  • BRUNOL3 2 3 4
  • 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
  • CUGBP2 3 4
  • ETR-3 3 4
  • NAPOR 3 4
  • ETR3 3 4
  • CUG Triplet Repeat, RNA-Binding Protein 2 2
  • CUG Triplet Repeat, RNA Binding Protein 2 2
  • CUGBP, Elav-Like Family Member 2 2
  • KDM2B/CELF2 Fusion 3
  • NAPOR-2 2
  • HNAPOR 4
  • CELF2 5
  • Etr-3 2

External Ids for CELF2 Gene

Previous HGNC Symbols for CELF2 Gene

  • CUGBP2

Previous GeneCards Identifiers for CELF2 Gene

  • GC10P011048
  • GC10P010966
  • GC10P011049
  • GC10P010796
  • GC10P011005

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 Ischemic Neuropathy and Myotonic Disease. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is CELF1.

UniProtKB/Swiss-Prot Summary 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). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233).

Gene Wiki entry for CELF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELF2 Gene

Genomics for CELF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CELF2 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
GH10J011160 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 623.1 +710.7 710699 24.8 SP1 CTCF ATF7 PRDM10 RFX1 LEF1 IKZF1 ZNF692 POLR2A BACH1 CELF2 ENSG00000230322 CELF2-AS2 lnc-ECHDC3-9 NONHSAG005220.2 USP6NL
GH10J011007 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 617.7 +552.0 551968 13.8 PRDM10 ZNF629 KDM1A ZNF692 PRDM1 ZIC2 ZSCAN4 PKNOX1 PATZ1 ZNF600 CELF2 ENSG00000228027 CELF2-AS2 NONHSAG005220.2 lnc-ECHDC3-10 lnc-ECHDC3-2 USP6NL
GH10J011005 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 600 +543.6 543586 1.8 CTCF NONHSAG005220.2 CELF2 ENSG00000228027 lnc-ECHDC3-10 USP6NL
GH10J010463 Promoter 0.4 Ensembl 600.7 +0.2 186 0.2 POLR2A CELF2 piR-61945-036 CELF2-DT
GH10J010462 Promoter 0.3 EPDnew 600.7 +0.0 16 0.1 CELF2 piR-61945-036 CELF2-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELF2

Genomic Locations for CELF2 Gene

Genomic Locations for CELF2 Gene
chr10:10,462,515-11,336,675
(GRCh38/hg38)
Size:
874,161 bases
Orientation:
Plus strand
chr10:11,047,259-11,378,674
(GRCh37/hg19)
Size:
331,416 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

Post-translational modifications for CELF2 Gene

  • Ubiquitination at Lys94 and Lys190
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CELF2 Gene

Domains & Families for CELF2 Gene

Gene Families for CELF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CELF2 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for CELF2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51739, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 2, mRNA (B4DIB6_HUMAN)
  • RNA-binding protein BRUNOL-3 (CELF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95319

UniProtKB/Swiss-Prot:

CELF2_HUMAN :
  • Belongs to the CELF/BRUNOL family.
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). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233).

Phenotypes From GWAS Catalog for CELF2 Gene

Gene Ontology (GO) - Molecular Function for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003729 mRNA binding IBA 21873635
GO:0036002 pre-mRNA binding IDA 11158314
genes like me logo Genes that share ontologies with CELF2: view
genes like me logo Genes that share phenotypes with CELF2: view

Animal Models for CELF2 Gene

MGI Knock Outs for CELF2:
  • Celf2 Celf2<tm1.1Yjin>
  • Celf2 Celf2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF2

Clone Products

  • Addgene plasmids for CELF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 CELF2 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (1)
  • Microtubules (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 11158314
GO:0005737 cytoplasm IBA 21873635
GO:1990904 ribonucleoprotein complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with CELF2: view

Pathways & Interactions for CELF2 Gene

PathCards logo

SuperPathways for CELF2 Gene

SuperPathway 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

Gene Ontology (GO) - Biological Process for CELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0006376 mRNA splice site selection IBA,IDA 11158314
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

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
Cytarabine Approved, Experimental, Investigational Pharma 1335
Dinoprostone Approved Pharma activates the PGE2 receptor, Major endogenous prostanoid 137
genes like me logo Genes that share compounds with CELF2: view

Transcripts for CELF2 Gene

mRNA/cDNA for CELF2 Gene

36 REFSEQ mRNAs :
37 NCBI additional mRNA sequence :
17 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 CELF2

Clone Products

  • Addgene plasmids for CELF2

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

Expression for CELF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CELF2 Gene



Protein tissue co-expression partners for CELF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CELF2

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.

Evidence on tissue expression from TISSUES for CELF2 Gene

  • Nervous system(5)
  • Heart(4.5)
  • Blood(3.6)
  • Skin(3.6)
  • Muscle(2.8)
  • Bone marrow(2.8)
  • Eye(2.7)
  • Intestine(2.5)
  • Lung(2.3)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with CELF2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CELF2 Gene

Orthologs for CELF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF2 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia CELF2 31
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CELF2 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CELF2 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CELF2 30 31
  • 95.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Celf2 30
  • 95.03 (n)
Mouse
(Mus musculus)
Mammalia Celf2 30 17 31
  • 94.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CELF2 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CELF2 30 31
  • 89.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CELF2 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia celf2 30
  • 87.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii celf2 30 31
  • 79.52 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta bru-2 30 31
  • 57.59 (n)
ManyToMany
aret 31
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea etr-1 30 31
  • 50.99 (n)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.13049 30
Wheat
(Triticum aestivum)
Liliopsida Ta.18709 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7203 31
  • 52 (a)
OneToMany
Species where no ortholog for CELF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELF2: view image

Paralogs for CELF2 Gene

Paralogs for CELF2 Gene

(15) SIMAP similar genes for CELF2 Gene using alignment to 6 proteins:

  • CELF2_HUMAN
  • B4DIB6_HUMAN
  • E9PC62_HUMAN
  • Q5VZZ6_HUMAN
  • V9GY47_HUMAN
  • V9GYD9_HUMAN
genes like me logo Genes that share paralogs with CELF2: view

Variants for CELF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELF2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
769767 Benign: not provided 10,920,008(+) G/A INTRON_VARIANT
770961 Benign: not provided 10,796,888(+) A/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1050942 - p.Asp438His

Additional dbSNP identifiers (rs#s) for CELF2 Gene

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

Variant ID Type Subtype PubMed ID
esv1301187 CNV insertion 17803354
esv1683473 CNV deletion 17803354
esv2043576 CNV deletion 18987734
esv23060 CNV loss 19812545
esv2495762 CNV insertion 19546169
esv2732918 CNV deletion 23290073
esv2732929 CNV deletion 23290073
esv2732940 CNV deletion 23290073
esv2732951 CNV deletion 23290073
esv275337 CNV gain+loss 21479260
esv3341960 CNV duplication 20981092
esv3578626 CNV loss 25503493
esv3578628 CNV loss 25503493
esv3578629 CNV loss 25503493
esv3578630 CNV loss 25503493
esv3578631 CNV loss 25503493
esv3622333 CNV loss 21293372
esv3622334 CNV loss 21293372
esv3622335 CNV gain 21293372
esv3622336 CNV loss 21293372
nsv1047445 CNV gain 25217958
nsv1069016 CNV deletion 25765185
nsv1069017 CNV deletion 25765185
nsv1113251 CNV deletion 24896259
nsv1122489 CNV deletion 24896259
nsv1122490 CNV deletion 24896259
nsv1137874 CNV deletion 24896259
nsv24299 CNV insertion 16902084
nsv437658 CNV loss 16327808
nsv438164 CNV loss 16468122
nsv507539 OTHER sequence alteration 20534489
nsv509343 CNV insertion 20534489
nsv513005 CNV insertion 21212237
nsv523553 CNV loss 19592680
nsv5798 CNV insertion 18451855
nsv951249 CNV duplication 24416366

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)

Additional Variant Information for CELF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF2

SNP Genotyping and Copy Number Assay Products

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

Disorders for CELF2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ischemic neuropathy
  • ischemic peripheral neuropathy
myotonic disease
  • myotonic syndrome
neuroblastoma
  • nb
myotonic dystrophy 1
  • md1
hypoparathyroidism, sensorineural deafness, and renal disease
  • hdr
- elite association - COSMIC cancer census association via MalaCards
Search CELF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELF2

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 CELF2: view

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

Publications for CELF2 Gene

  1. Identification of CELF splicing activation and repression domains in vivo. (PMID: 15894795) Han J … Cooper TA (Nucleic acids research 2005) 3 4 23
  2. 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
  3. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PMID: 10893231) Good PJ … Herring DC (The Journal of biological chemistry 2000) 3 4 23
  4. Developmentally-regulated expression of mNapor encoding an apoptosis-induced ELAV-type RNA binding protein. (PMID: 10524244) Choi DK … Sakaki Y (Gene 1999) 3 4 23
  5. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. (PMID: 9887331) Lu X … Timchenko LT (Human molecular genetics 1999) 2 3 23

Products for CELF2 Gene

Sources for CELF2 Gene