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Aliases for COIL Gene

Aliases for COIL Gene

  • Coilin 2 3 3 5
  • P80-Coilin 3 4
  • CLN80 3 4
  • Coilin P80 3
  • P80 3

External Ids for COIL Gene

Previous GeneCards Identifiers for COIL Gene

  • GC17M054752
  • GC17M057497
  • GC17M055357
  • GC17M055490
  • GC17M052370
  • GC17M055015
  • GC17M050376

Summaries for COIL Gene

Entrez Gene Summary for COIL Gene

  • The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]

GeneCards Summary for COIL Gene

COIL (Coilin) is a Protein Coding gene. Diseases associated with COIL include Spinal Muscular Atrophy and Ischemic Neuropathy. Among its related pathways are Translational Control. GO annotations related to this gene include identical protein binding and protein C-terminus binding.

UniProtKB/Swiss-Prot for COIL Gene

  • Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs.

Gene Wiki entry for COIL Gene

Additional gene information for COIL Gene

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

Genomics for COIL Gene

Regulatory Elements for COIL Gene

Enhancers for COIL 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
GH17H057460 1.9 FANTOM5 Ensembl ENCODE dbSUPER 49.2 -502.5 -502483 6 HDGF PKNOX1 ZNF493 ZFP64 ZBTB7B ZNF121 ZNF207 FOS ATF7 RUNX3 SRSF1 MKS1 ENSG00000262298 COIL DGKE MSI2 VEZF1 DYNLL2 ENSG00000279281 LOC101927557
GH17H057877 1.5 Ensembl ENCODE dbSUPER 25.2 -919.6 -919577 5 FOXA2 ZFP64 ARID4B SIN3A DMAP1 GLIS2 FOS SP5 ZC3H11A MXD4 MKS1 SRSF1 COIL CUEDC1 VEZF1 MRPS23 ENSG00000262298 RAD51C GC17P057856 ENSG00000264914
GH17H057084 1.7 Ensembl ENCODE dbSUPER 21.6 -125.9 -125930 5 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000263004 SRSF1 COIL ENSG00000262298 DGKE VEZF1 SCPEP1 AKAP1 ENSG00000263089
GH17H057660 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.5 -703.1 -703067 7 PKNOX1 SIN3A BMI1 RAD21 RFX5 RCOR1 FOS CREM SP3 NFYA COIL OR4D1 ENSG00000229590 MSI2 DYNLL2 GC17P057670 GC17P057653
GH17H057648 1.2 ENCODE dbSUPER 27.6 -689.1 -689149 3 HDGF PKNOX1 FOXA2 ARNT YBX1 TCF12 GLIS2 ZNF207 FOS ATF7 SRSF1 MKS1 ENSG00000262298 COIL VEZF1 TSPOAP1 DGKE TRIM25 RNU7-134P GC17P057653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COIL on UCSC Golden Path with GeneCards custom track

Promoters for COIL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096051 254 1200 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF143

Genomic Location for COIL Gene

Chromosome:
17
Start:
56,938,187 bp from pter
End:
56,961,054 bp from pter
Size:
22,868 bases
Orientation:
Minus strand

Genomic View for COIL Gene

Genes around COIL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for COIL Gene

Proteins for COIL Gene

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

    Protein Symbol:
    P38432-COIL_HUMAN
    Recommended name:
    Coilin
    Protein Accession:
    P38432
    Secondary Accessions:
    • B2R931

    Protein attributes for COIL Gene

    Size:
    576 amino acids
    Molecular mass:
    62608 Da
    Quaternary structure:
    • Interacts with ANKS1B. Interacts with SMN (via Tudor domain). Interacts (via C-terminus) with AK6.

neXtProt entry for COIL Gene

Post-translational modifications for COIL Gene

  • Phosphorylation during mitosis is associated with disassembly of CBs.
  • Symmetrical dimethylation of arginine residues within the RG repeat region enhances affinity for SMN, and thus localization of SMN complexes to CBs.
  • Ubiquitination at posLast=555555
  • Modification sites at PhosphoSitePlus

Other Protein References for COIL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for COIL (coilin)
  • Abcam antibodies for COIL

No data available for DME Specific Peptides for COIL Gene

Domains & Families for COIL Gene

Gene Families for COIL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for COIL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COIL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P38432

UniProtKB/Swiss-Prot:

COIL_HUMAN :
  • The atypical Tudor domain at the C-terminus contains two large unstructured loops, and does not bind methylated residues.
  • Belongs to the coilin family.
Domain:
  • The atypical Tudor domain at the C-terminus contains two large unstructured loops, and does not bind methylated residues.
Family:
  • Belongs to the coilin family.
genes like me logo Genes that share domains with COIL: view

Function for COIL Gene

Molecular function for COIL Gene

GENATLAS Biochemistry:
coilin,protein of the non-capsular nuclear bodies (coiled bodies),in interphase cells,80kDa
UniProtKB/Swiss-Prot Function:
Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs.

Phenotypes From GWAS Catalog for COIL Gene

Gene Ontology (GO) - Molecular Function for COIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12757932
GO:0008022 protein C-terminus binding IEA,IPI 12757932
GO:0042802 identical protein binding IPI 16713569
genes like me logo Genes that share ontologies with COIL: view
genes like me logo Genes that share phenotypes with COIL: view

Animal Models for COIL Gene

MGI Knock Outs for COIL:

Animal Model Products

CRISPR Products

miRNA for COIL Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for COIL
  • Applied Biological Materials Clones for COIL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COIL Gene

Localization for COIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for COIL Gene

Nucleus. Nucleus, Cajal body.

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 COIL gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoli fibrillar center (4)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus TAS,IDA 19734146
GO:0005654 nucleoplasm IDA 12757932
GO:0005730 nucleolus IDA 12757932
GO:0015030 Cajal body IDA,IEA 12757932
genes like me logo Genes that share ontologies with COIL: view

Pathways & Interactions for COIL Gene

SuperPathway Contained pathways
1 Translational Control
genes like me logo Genes that share pathways with COIL: view

Pathways by source for COIL Gene

1 Cell Signaling Technology pathway for COIL Gene

SIGNOR curated interactions for COIL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COIL Gene

None

Drugs & Compounds for COIL Gene

(5) Drugs for COIL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for COIL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COIL: view

Transcripts for COIL Gene

mRNA/cDNA for COIL Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(175) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COIL Gene

Coilin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for COIL
  • Applied Biological Materials Clones for COIL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for COIL Gene

GeneLoc Exon Structure for
COIL
ECgene alternative splicing isoforms for
COIL

Expression for COIL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COIL Gene

This gene is overexpressed in Testis (x6.0).

Protein differential expression in normal tissues from HIPED for COIL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.3), Testis (12.3), Monocytes (10.1), and Breast (7.5).

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



Protein tissue co-expression partners for COIL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COIL Gene:

COIL

SOURCE GeneReport for Unigene cluster for COIL Gene:

Hs.532795

mRNA Expression by UniProt/SwissProt for COIL Gene:

P38432-COIL_HUMAN
Tissue specificity: Found in all the cell types examined.

Evidence on tissue expression from TISSUES for COIL Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with COIL: view

Primer Products

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

Orthologs for COIL Gene

This gene was present in the common ancestor of chordates.

Orthologs for COIL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COIL 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia COIL 33 34
  • 82.96 (n)
cow
(Bos Taurus)
Mammalia COIL 33 34
  • 82.48 (n)
rat
(Rattus norvegicus)
Mammalia Coil 33
  • 75.01 (n)
mouse
(Mus musculus)
Mammalia Coil 33 16 34
  • 74.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COIL 34
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COIL 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves COIL 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COIL 34
  • 38 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397940 33
zebrafish
(Danio rerio)
Actinopterygii coil 33 34
  • 37 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7255 33
Species where no ortholog for COIL 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COIL Gene

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

Paralogs for COIL Gene

Pseudogenes.org Pseudogenes for COIL Gene

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

No data available for Paralogs for COIL Gene

Variants for COIL Gene

Sequence variations from dbSNP and Humsavar for COIL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000062245 -- 56,941,919(+) CACAC(C/T)ATAAG intron-variant
rs1000085362 -- 56,957,300(+) CGATT(-/A)AAAAA intron-variant
rs1000137109 -- 56,962,586(+) TCCCT(C/G)AGAAC intron-variant, upstream-variant-2KB
rs1000290689 -- 56,951,932(+) AATAG(C/T)TGGAA intron-variant
rs1000431693 -- 56,942,231(+) AACTG(C/T)CAATT intron-variant

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

Variant ID Type Subtype PubMed ID
esv32884 CNV loss 17666407
esv3640861 CNV loss 21293372
nsv962345 CNV duplication 23825009
nsv978440 CNV duplication 23825009

Variation tolerance for COIL Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COIL Gene

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

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

Disorders for COIL Gene

MalaCards: The human disease database

(3) MalaCards diseases for COIL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy
  • juvenile spinal muscular atrophy
ischemic neuropathy
  • ischemic peripheral neuropathy
spherocytosis, type 1
  • hereditary spherocytosis type 1
- elite association - COSMIC cancer census association via MalaCards
Search COIL in MalaCards View complete list of genes associated with diseases

Relevant External Links for COIL

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

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

Publications for COIL Gene

  1. Structure, expression and chromosomal localization of human p80-coilin gene. (PMID: 7971277) Chan EK … Matera AG (Nucleic acids research 1994) 2 3 4 22 60
  2. Characterization of hCINAP, a novel coilin-interacting protein encoded by a transcript from the transcription factor TAFIID32 locus. (PMID: 16079131) Santama N … Lamond AI (The Journal of biological chemistry 2005) 3 4 22 60
  3. Coilin methylation regulates nuclear body formation. (PMID: 12361597) Hebert MD … Matera AG (Developmental cell 2002) 3 4 22 60
  4. Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. (PMID: 11641277) Hebert MD … Matera AG (Genes & development 2001) 3 4 22 60
  5. Assembly of snRNP-containing coiled bodies is regulated in interphase and mitosis--evidence that the coiled body is a kinetic nuclear structure. (PMID: 7679389) Carmo-Fonseca M … Lamond AI (The Journal of cell biology 1993) 3 4 22 60

Products for COIL Gene

  • Addgene plasmids for COIL

Sources for COIL Gene

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