COIL (Coilin) Gene
Key Component of Cajal Bodies in Nuclear Organization
Gene Information Card
| Symbol | COIL |
|---|---|
| Full Name | coilin |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 8161 ncbi.nlm.nih.gov/gene/8161 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P38432 |
| OMIM ID | 600272 |
| HGNC ID | 2184 |
| Aliases | CLN80, p80-coilin |
Description
The COIL gene encodes coilin, a 80 kDa phosphoprotein that is a molecular scaffold for Cajal bodies (CBs), nuclear suborganelles involved in the biogenesis and modification of small nuclear ribonucleoproteins (snRNPs) and small nucleolar RNPs (snoRNPs). Coilin self-associates and interacts with multiple RNA processing factors, facilitating the assembly and maintenance of CBs. It is ubiquitously expressed and plays roles in RNA metabolism, telomerase trafficking, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy (SMA) | Coilin interacts with SMN protein; disruption of CBs may contribute to SMA pathology | PMID: 11532976 |
| Cancer (various) | Altered coilin expression and CB number observed in multiple tumor types; potential role in telomerase regulation | PMID: 21804562 |
| Autoimmune disease (e.g., Sjögren's syndrome) | Autoantibodies against coilin detected in patient sera | PMID: 7686191 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain (cerebellum) | 15.0 | Medium |
| Liver | 10.3 | Medium |
| Heart | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical adenocarcinoma; high expression |
| HEK293 | 19.5 | Embryonic kidney; moderate-high |
| K562 | 14.8 | Leukemia; moderate |
| HepG2 | 12.3 | Hepatocellular carcinoma; moderate |
| A549 | 9.7 | Lung carcinoma; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Start codon loss; predicted loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Unknown; rare variant |
| c.857G>A (p.Arg286His) | missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in disease; experimental knockdown reduces CB number.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (nucleus) | • GO:0015030 (Cajal body) |
| • GO:0003723 (RNA binding) | • GO:0005515 (protein binding) |
| • GO:0006397 (mRNA processing) | • GO:0008380 (RNA splicing) |
| • GO:0005654 (nucleoplasm) |
Pathways
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• snRNP Assembly (Reactome: R-HSA-191859)
Protein Summary
Coilin is a 576-amino acid protein with a molecular weight of approximately 80 kDa. It contains a self-association domain, a Tudor-like domain, and multiple phosphorylation sites that regulate its localization and interaction with SMN, fibrillarin, and other CB components. Coilin is essential for CB integrity and is involved in snRNP maturation, telomerase trafficking, and stress granule dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COIL Knockout HEK293 Cell Line | EDJ-KQ6179 | Human | 8161 | Details Get a Quote |
| COIL Knockout A-549 Cell Line | EDJ-KQ30003 | Human | 8161 | Details Get a Quote |
| COIL Knockout HCT 116 Cell Line | EDJ-KQ30004 | Human | 8161 | Details Get a Quote |
| COIL Knockout HeLa Cell Line | EDC09868 | Human | 8161 | Details Get a Quote |
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