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Aliases for COBL Gene

Aliases for COBL Gene

  • Cordon-Bleu WH2 Repeat Protein 2 3 5
  • Cordon-Bleu Homolog (Mouse) 2
  • KIAA0633 4

External Ids for COBL Gene

Previous GeneCards Identifiers for COBL Gene

  • GC07M050548
  • GC07M050791
  • GC07M050825
  • GC07M050858
  • GC07M051051
  • GC07M050933

Summaries for COBL Gene

Entrez Gene Summary for COBL Gene

  • This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]

GeneCards Summary for COBL Gene

COBL (Cordon-Bleu WH2 Repeat Protein) is a Protein Coding gene. GO annotations related to this gene include actin binding and actin monomer binding. An important paralog of this gene is COBLL1.

UniProtKB/Swiss-Prot for COBL Gene

  • Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.

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

Genomics for COBL Gene

Regulatory Elements for COBL Gene

Enhancers for COBL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G051262 1.4 Ensembl ENCODE dbSUPER 18.9 +52.6 52629 4.1 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZHX2 MXD4 KAT8 COBL PIR49574 PIR33565
GH07G051288 1.3 Ensembl ENCODE dbSUPER 18.9 +26.4 26370 3.0 ELF3 FOXA2 RAD21 YY1 RARA MIXL1 ZNF263 NR2F2 NFIL3 GLIS1 COBL PIR33565
GH07G051312 1.6 FANTOM5 ENCODE dbSUPER 14.7 +1.3 1327 5.7 FOXA2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 FOS COBL PIR33565
GH07G051275 1.2 Ensembl ENCODE dbSUPER 18.8 +38.5 38463 5.5 MAX CEBPG RAD21 ZIC2 YY1 POLR2A EGR1 NFIA ZNF10 NRF1 COBL PIR49574 PIR33565
GH07G051249 1.2 ENCODE dbSUPER 17.7 +66.4 66371 2.7 ZFP64 ARID4B YY1 GLIS2 KLF7 FOS ZNF263 SP3 SP5 ZNF579 COBL RPL7L1P2 PIR46384
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COBL on UCSC Golden Path with GeneCards custom track

Promoters for COBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000212522 518 1801 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 GLIS2 FOS KLF7 ZNF263

Genomic Location for COBL Gene

Chromosome:
7
Start:
51,016,212 bp from pter
End:
51,316,818 bp from pter
Size:
300,607 bases
Orientation:
Minus strand

Genomic View for COBL Gene

Genes around COBL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for COBL Gene

Proteins for COBL Gene

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

    Protein Symbol:
    O75128-COBL_HUMAN
    Recommended name:
    Protein cordon-bleu
    Protein Accession:
    O75128
    Secondary Accessions:
    • A4D257
    • A7E2B0
    • B7ZLW9
    • B9EGF8
    • Q2T9J3
    • Q504Y4
    • Q86XA7
    • Q8N304
    • Q8TCM1

    Protein attributes for COBL Gene

    Size:
    1261 amino acids
    Molecular mass:
    135617 Da
    Quaternary structure:
    • Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts (via WH2 domains) with actin monomers. Interacts with both PACSIN1 and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity).
    SequenceCaution:
    • Sequence=BAA31608.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COBL Gene

    Alternative splice isoforms for COBL Gene

neXtProt entry for COBL Gene

Post-translational modifications for COBL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COBL Gene

Domains & Families for COBL Gene

Protein Domains for COBL Gene

Suggested Antigen Peptide Sequences for COBL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COBL: view

No data available for Gene Families and UniProtKB/Swiss-Prot for COBL Gene

Function for COBL Gene

Molecular function for COBL Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.

Gene Ontology (GO) - Molecular Function for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0003785 actin monomer binding IEA,ISS --
genes like me logo Genes that share ontologies with COBL: view
genes like me logo Genes that share phenotypes with COBL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COBL Gene

Localization for COBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for COBL Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, ruffle. Cytoplasm. Note=Recruited to the cell membrane via interaction with PACSIN1. Colocalizes with the actin cytoskeleton. Detected throughout the neuron cell body, as well as in axons and dendrites (By similarity). {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 COBL gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4

Gene Ontology (GO) - Cellular Components for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA,ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005884 colocalizes_with actin filament IEA,ISS --
GO:0005886 plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with COBL: view

Pathways & Interactions for COBL Gene

No Data Available

Gene Ontology (GO) - Biological Process for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification ISS --
GO:0001757 somite specification IEA,ISS --
GO:0001843 neural tube closure IEA,ISS --
GO:0001889 liver development ISS,IEA --
GO:0030041 actin filament polymerization IEA,ISS --
genes like me logo Genes that share ontologies with COBL: view

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

Drugs & Compounds for COBL Gene

No Compound Related Data Available

Transcripts for COBL Gene

Unigene Clusters for COBL Gene

Cordon-bleu WH2 repeat protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

Relevant External Links for COBL Gene

GeneLoc Exon Structure for
COBL
ECgene alternative splicing isoforms for
COBL

Expression for COBL Gene

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

Protein differential expression in normal tissues from HIPED for COBL Gene

This gene is overexpressed in Serum (22.0), Heart (15.4), and Plasma (10.0).

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



NURSA nuclear receptor signaling pathways regulating expression of COBL Gene:

COBL

SOURCE GeneReport for Unigene cluster for COBL Gene:

Hs.99141

Evidence on tissue expression from TISSUES for COBL Gene

  • Gall bladder(5)
  • Nervous system(4.7)
  • Muscle(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with COBL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COBL Gene

Orthologs for COBL Gene

This gene was present in the common ancestor of chordates.

Orthologs for COBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COBL 34 35
  • 99.08 (n)
mouse
(Mus musculus)
Mammalia Cobl 34 16 35
  • 74.66 (n)
rat
(Rattus norvegicus)
Mammalia Cobl 34
  • 72.51 (n)
cow
(Bos Taurus)
Mammalia COBL 34 35
  • 71.97 (n)
dog
(Canis familiaris)
Mammalia COBL 34 35
  • 71.59 (n)
oppossum
(Monodelphis domestica)
Mammalia COBL 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COBL 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves COBL 34 35
  • 59.07 (n)
lizard
(Anolis carolinensis)
Reptilia COBL 35
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cobl 34
  • 57.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52972 34
zebrafish
(Danio rerio)
Actinopterygii cobl 35
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 35
  • 27 (a)
OneToMany
Species where no ortholog for COBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COBL Gene

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

Paralogs for COBL Gene

Paralogs for COBL Gene

(1) SIMAP similar genes for COBL Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for COBL Gene

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

Variants for COBL Gene

Sequence variations from dbSNP and Humsavar for COBL Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs386352293 Uncertain significance 51,219,771(-) TAGTG(G/T)GCTGG reference, missense
rs1000012946 -- 51,297,186(+) TTTAC(C/G)TAGGT intron-variant
rs1000022127 -- 51,123,916(+) CTTGG(A/C/G)TTGAA intron-variant
rs1000022373 -- 51,188,345(+) AAGGG(C/T)TCCTC intron-variant
rs1000024127 -- 51,057,209(+) TTGTT(A/C)TAATT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1085e201 CNV deletion 23290073
esv1975196 CNV deletion 18987734
esv2734386 CNV deletion 23290073
esv2734387 CNV deletion 23290073
esv2734388 CNV deletion 23290073
esv2734389 CNV deletion 23290073
esv2734390 CNV deletion 23290073
esv2734391 CNV deletion 23290073
esv2761146 CNV gain+loss 21179565
esv3541628 CNV deletion 23714750
esv3541630 CNV deletion 23714750
nsv1016665 CNV gain 25217958
nsv1137218 CNV deletion 24896259
nsv366189 CNV deletion 16902084
nsv476668 CNV novel sequence insertion 20440878
nsv516294 CNV gain 19592680
nsv5739 CNV insertion 18451855
nsv5740 CNV insertion 18451855
nsv606907 CNV gain 21841781
nsv830999 CNV gain 17160897
nsv831000 CNV gain 17160897
nsv970476 CNV duplication 23825009

Variation tolerance for COBL Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.46; 71.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COBL Gene

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

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

Disorders for COBL Gene

Relevant External Links for COBL

Genetic Association Database (GAD)
COBL
Human Genome Epidemiology (HuGE) Navigator
COBL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COBL

No disorders were found for COBL Gene.

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

Publications for COBL Gene

  1. Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly. (PMID: 21816349) Husson C. … Carlier M.F. (Mol. Cell 2011) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PMID: 19430480) Barrett J.C. … Rich S.S. (Nat. Genet. 2009) 3 46 64

Products for COBL Gene

Sources for COBL Gene

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