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Aliases for CELF6 Gene

Aliases for CELF6 Gene

  • CUGBP Elav-Like Family Member 6 2 3 5
  • CUG-BP- And ETR-3-Like Factor 6 3 4
  • RNA-Binding Protein BRUNOL-6 3 4
  • Bruno-Like Protein 6 3 4
  • BRUNOL6 3 4
  • CELF-6 3 4
  • Bruno (Drosophila) -Like 6, RNA Binding Protein 2
  • Bruno-Like 6, RNA Binding Protein (Drosophila) 2
  • Bruno -Like 6, RNA Binding Protein 3
  • Bruno-Like 6, RNA Binding Protein 3
  • CUGBP, Elav-Like Family Member 6 2

External Ids for CELF6 Gene

Previous HGNC Symbols for CELF6 Gene

  • BRUNOL6

Previous GeneCards Identifiers for CELF6 Gene

  • GC15M072577
  • GC15M049407

Summaries for CELF6 Gene

Entrez Gene Summary for CELF6 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 CELF6 Gene

CELF6 (CUGBP Elav-Like Family Member 6) is a Protein Coding gene. 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 CELF6 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.

Additional gene information for CELF6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF6 Gene

Genomics for CELF6 Gene

GeneHancer (GH) Regulatory Elements for CELF6 Gene

Promoters and enhancers for CELF6 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
GH15I072319 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.1 -86 1.3 HDGF PKNOX1 CLOCK ATF1 SIN3A ZNF2 ZBTB7B ZNF121 GLIS2 ZNF213 CELF6 ENSG00000273025 LOC105370887 ENSG00000260729 GC15M072170
GH15I072306 Promoter 0.9 EPDnew 550.4 +13.8 13849 0.1 MXI1 RFX1 CEBPB BMI1 RFX5 SP1 RFX3 KDM1A RCOR1 CELF6 ENSG00000273025 LOC105370887 ENSG00000260729 GC15M072170
GH15I072225 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 55.9 +90.9 90932 8 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 SLC30A9 ZNF213 E2F8 ZNF416 PKM ENSG00000261187 LOC105370887 HEXA MYO9A TMEM202-AS1 ARIH1 ADPGK CELF6 RPL17P39
GH15I072116 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 44.3 +202.0 202004 4 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 MYO9A SENP8 CELF6 ENSG00000261187 PARP6 RPL17P39 BBS4 ARIH1 TMEM202-AS1 ENSG00000260672
GH15I072471 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.2 -153.8 -153777 5.6 CLOCK MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ARIH1 TMEM202-AS1 ENSG00000261187 HEXA PARP6 LOC105370887 BBS4 MYO9A ENSG00000260672 CELF6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CELF6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CELF6 Gene

Genomic Locations for CELF6 Gene
chr15:72,284,727-72,320,184
(GRCh38/hg38)
Size:
35,458 bases
Orientation:
Minus strand
chr15:72,577,068-72,612,525
(GRCh37/hg19)

Genomic View for CELF6 Gene

Genes around CELF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF6 Gene

Proteins for CELF6 Gene

  • Protein details for CELF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J87-CELF6_HUMAN
    Recommended name:
    CUGBP Elav-like family member 6
    Protein Accession:
    Q96J87
    Secondary Accessions:
    • B4DG28
    • B4DJB6
    • Q6PII4
    • Q6ZNJ7
    • Q8N607

    Protein attributes for CELF6 Gene

    Size:
    481 amino acids
    Molecular mass:
    50477 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85148.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF6 Gene

    Alternative splice isoforms for CELF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF6 Gene

Post-translational modifications for CELF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CELF6 Gene

No data available for DME Specific Peptides for CELF6 Gene

Domains & Families for CELF6 Gene

Gene Families for CELF6 Gene

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

Protein Domains for CELF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q96J87

UniProtKB/Swiss-Prot:

CELF6_HUMAN :
  • Belongs to the CELF/BRUNOL family.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF6: view

Function for CELF6 Gene

Molecular function for CELF6 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.

Gene Ontology (GO) - Molecular Function for CELF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding NAS 14761971
genes like me logo Genes that share ontologies with CELF6: view
genes like me logo Genes that share phenotypes with CELF6: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CELF6 Gene

Localization for CELF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF6 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 CELF6 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CELF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 14761971
GO:0005737 cytoplasm NAS 14761971
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CELF6: view

Pathways & Interactions for CELF6 Gene

SuperPathways for CELF6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CELF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 14761971
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with CELF6: view

No data available for Pathways by source and SIGNOR curated interactions for CELF6 Gene

Drugs & Compounds for CELF6 Gene

No Compound Related Data Available

Transcripts for CELF6 Gene

Unigene Clusters for CELF6 Gene

CUGBP, Elav-like family member 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELF6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2:
SP3: - - -
SP4: - - - -

Relevant External Links for CELF6 Gene

GeneLoc Exon Structure for
CELF6
ECgene alternative splicing isoforms for
CELF6

Expression for CELF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELF6 Gene

Protein differential expression in normal tissues from HIPED for CELF6 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELF6 Gene



Protein tissue co-expression partners for CELF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CELF6 Gene:

CELF6

SOURCE GeneReport for Unigene cluster for CELF6 Gene:

Hs.348342

mRNA Expression by UniProt/SwissProt for CELF6 Gene:

Q96J87-CELF6_HUMAN
Tissue specificity: Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney.

Evidence on tissue expression from TISSUES for CELF6 Gene

  • Blood(5)
  • Lung(5)
  • Nervous system(4.4)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with CELF6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CELF6 Gene

Orthologs for CELF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELF6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Celf6 34
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 77 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CELF6 34
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bru-3 34
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-75 34
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 34
  • 41 (a)
OneToMany
Species where no ortholog for CELF6 was found in the sources mined by GeneCards:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CELF6 Gene

ENSEMBL:
Gene Tree for CELF6 (if available)
TreeFam:
Gene Tree for CELF6 (if available)

Paralogs for CELF6 Gene

Paralogs for CELF6 Gene

(8) SIMAP similar genes for CELF6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CELF6: view

Variants for CELF6 Gene

Sequence variations from dbSNP and Humsavar for CELF6 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000018610 -- 72,302,257(-) G/T intron_variant
rs1000128560 -- 72,309,234(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000129131 -- 72,286,809(-) C/T intron_variant
rs1000135030 -- 72,298,978(-) C/G intron_variant
rs1000222433 -- 72,290,739(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CELF6 Gene

Variant ID Type Subtype PubMed ID
nsv1131199 CNV deletion 24896259
nsv1601 CNV deletion 18451855

Variation tolerance for CELF6 Gene

Gene Damage Index Score: 2.27; 40.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CELF6 Gene

Human Gene Mutation Database (HGMD)
CELF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF6 Gene

Disorders for CELF6 Gene

Additional Disease Information for CELF6

No disorders were found for CELF6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CELF6 Gene

Publications for CELF6 Gene

  1. CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. (PMID: 14761971) Ladd AN … Cooper TA (The Journal of biological chemistry 2004) 3 4 22 58
  2. 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) 2 3 4 58
  3. The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. (PMID: 23407934) Dougherty JD … Heintz N (The Journal of neuroscience : the official journal of the Society for Neuroscience 2013) 3 58
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S … Cupples LA (BMC medical genetics 2007) 44 58
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox CS … Atwood LD (BMC medical genetics 2007) 44 58

Products for CELF6 Gene

Sources for CELF6 Gene

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