COBL Gene - Cordon-Bleu WH2 Repeat Protein
Comprehensive genomic and functional analysis of the COBL gene, encoding an actin nucleator involved in cytoskeletal dynamics and development.
Gene Information Card
| Symbol | COBL |
|---|---|
| Full Name | Cordon-Bleu WH2 Repeat Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 7p12.1 |
| NCBI Gene ID | 23242 ncbi.nlm.nih.gov/gene/23242 |
| Ensembl ID | ENSG00000106078 |
| UniProt ID | Q75128 |
| OMIM ID | 610317 |
| HGNC ID | 24479 |
| Aliases | COBL, CORDON-BLEU, KIAA0633 |
Description
The COBL gene encodes the cordon-bleu protein, a WH2 (WASP homology 2) repeat-containing actin nucleator that promotes the formation of unbranched actin filaments. It is involved in cytoskeletal organization, cell morphogenesis, and neuronal development. Mutations in COBL have been associated with intellectual disability and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 73 | Loss-of-function mutations impair actin nucleation, affecting neuronal development | ClinVar, OMIM |
| Microcephaly | Disrupted actin dynamics lead to reduced brain size | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Heart | 2.7 | Not detected |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa | 3.8 | Low expression |
| HEK293 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, truncated protein |
| c.567delG (p.Gly190Valfs*12) | Frameshift | Rare | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause loss of actin nucleation activity, linked to neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin nucleation |
| • cytoskeleton organization | • cell morphogenesis |
| • neuron projection development |
Pathways
• Actin nucleation by WH2 domain proteins
• Regulation of actin cytoskeleton
Protein Summary
The cordon-bleu protein contains three WH2 domains that bind actin monomers and nucleate unbranched actin filaments. It is highly expressed in the brain and plays a critical role in neuronal migration and dendritic spine formation. Loss-of-function mutations cause autosomal recessive intellectual disability with microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COBLL1 Knockout HEK293 Cell Line | EDJ-KQ7686 | Human | 22837 | Details Get a Quote |
| COBL Knockout HEK293 Cell Line | EDJ-KQ7910 | Human | 23242 | Details Get a Quote |
| COBLL1 Knockout A-549 Cell Line | EDJ-KQ33048 | Human | 22837 | Details Get a Quote |
| COBLL1 Knockout HCT 116 Cell Line | EDJ-KQ33049 | Human | 22837 | Details Get a Quote |
| COBLL1 Knockout HeLa Cell Line | EDJ-KQ33050 | Human | 22837 | Details Get a Quote |
| COBL Knockout A-549 Cell Line | EDJ-KQ33530 | Human | 23242 | Details Get a Quote |
| COBL Knockout HCT 116 Cell Line | EDJ-KQ33531 | Human | 23242 | Details Get a Quote |
| COBL Knockout HeLa Cell Line | EDJ-KQ33532 | Human | 23242 | Details Get a Quote |
