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 ... See more...

Aliases for CELF6 Gene

Aliases for CELF6 Gene

  • CUGBP Elav-Like Family Member 6 2 3 4 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. Diseases associated with CELF6 include Atrial Septal Defect 1 and Optic Nerve Neoplasm. 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 Summary 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 , Rfam classification and piRNA Summary for CELF6 Gene

Genomics for CELF6 Gene

GeneHancer (GH) Regulatory Elements for CELF6 Gene

Promoters and enhancers for CELF6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELF6

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)
Size:
35,458 bases
Orientation:
Minus strand

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

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

Suggested Antigen Peptide Sequences for CELF6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42868 fis, clone BRHIP2021615, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B3KWE6_HUMAN)
  • cDNA FLJ55572, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B4DG28_HUMAN)
  • cDNA FLJ56494, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B4DJB6_HUMAN)
  • RNA-binding protein BRUNOL-6 (CELF6_HUMAN)

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.

Phenotypes From GWAS Catalog for CELF6 Gene

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,IBA 14761971
GO:0003729 mRNA binding IBA 21873635
genes like me logo Genes that share ontologies with CELF6: view
genes like me logo Genes that share phenotypes with CELF6: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 4
mitochondrion 2
extracellular 1
cytoskeleton 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for CELF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,NAS 14761971
GO:0005737 cytoplasm IBA,NAS 14761971
GO:0005829 cytosol IDA --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with CELF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CELF6 Gene

Pathways & Interactions for CELF6 Gene

PathCards logo

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:0006376 mRNA splice site selection IBA 21873635
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

mRNA/cDNA for CELF6 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for CELF6 Gene

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



Protein tissue co-expression partners for CELF6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 -- 31
  • 98 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Celf6 31
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CELF6 31
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bru-3 31
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-75 31
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELF6: view image

Paralogs for CELF6 Gene

Paralogs for CELF6 Gene

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

  • CELF6_HUMAN
  • B3KWE6_HUMAN
  • F6UBL3_HUMAN
genes like me logo Genes that share paralogs with CELF6: view

Variants for CELF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELF6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs774435160 Likely Benign: not specified 72,304,807(-) G/A INTRON_VARIANT
rs34566074 - p.Arg152Pro

Additional dbSNP identifiers (rs#s) for CELF6 Gene

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

MalaCards: The human disease database

(3) MalaCards diseases for CELF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atrial septal defect 1
  • asd1
optic nerve neoplasm
  • neoplasm of optic nerve
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search CELF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELF6

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

No data available for 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 23 54
  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 54
  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 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S … Cupples LA (BMC medical genetics 2007) 41 54

Products for CELF6 Gene

Sources for CELF6 Gene