CAMSAP2: Calmodulin-Regulated Spectrin-Associated Protein 2
A key regulator of microtubule minus-end organization and neuronal development
Gene Information Card
| Symbol | CAMSAP2 |
|---|---|
| Full Name | Calmodulin Regulated Spectrin Associated Protein Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 23271 ncbi.nlm.nih.gov/gene/23271 |
| Ensembl ID | ENSG00000163599 |
| UniProt ID | Q08AD1 |
| OMIM ID | 614204 |
| HGNC ID | 29147 |
| Aliases | CAMSAP1L1, FLJ10718, KIAA1078 |
Description
CAMSAP2 encodes a member of the calmodulin-regulated spectrin-associated protein (CAMSAP) family. The protein specifically binds to and stabilizes microtubule minus ends, playing a critical role in non-centrosomal microtubule organization. It is essential for neuronal migration, cortical development, and maintaining cell polarity. CAMSAP2 interacts with spectrin and calmodulin, linking microtubules to the actin cytoskeleton.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, cortical malformations | Loss-of-function mutations impair microtubule minus-end stabilization, disrupting neuronal migration and cortical layering | ClinVar, OMIM |
| Neurodevelopmental disorders | Disrupted CAMSAP2 function alters dendritic spine morphology and synaptic plasticity | ClinVar, PubMed |
| Cancer (potential) | Altered CAMSAP2 expression may affect cell polarity and proliferation in certain tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Lung | 5.1 | Medium |
| Heart | 3.8 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.4 | Moderate expression |
| A549 (lung carcinoma) | 4.2 | Low expression |
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; truncation of CAMSAP2 protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.2345G>A (p.Arg782His) | Missense | Unknown | Likely damaging; affects microtubule binding domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing microtubule minus-end stabilization and neuronal migration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; heterozygous mutations may cause haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • microtubule minus-end binding | • calmodulin binding |
| • spectrin binding | • microtubule cytoskeleton organization |
| • neuron projection development | • cell polarity |
Pathways
• Microtubule minus-end stabilization
• Non-centrosomal microtubule organization
• Neuronal migration and cortical development
Protein Summary
CAMSAP2 is a 1,492-amino-acid protein that localizes to microtubule minus ends, protecting them from depolymerization. It contains a C-terminal CKK domain essential for microtubule binding and an N-terminal region that interacts with spectrin and calmodulin. The protein is highly expressed in the brain and is crucial for proper neuronal morphology and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMSAP2 Knockout HEK293 Cell Line | EDJ-KQ7933 | Human | 23271 | Details Get a Quote |
| CAMSAP2 Knockout A-549 Cell Line | EDJ-KQ33581 | Human | 23271 | Details Get a Quote |
| CAMSAP2 Knockout HCT 116 Cell Line | EDJ-KQ33582 | Human | 23271 | Details Get a Quote |
| CAMSAP2 Knockout HeLa Cell Line | EDJ-KQ33583 | Human | 23271 | Details Get a Quote |
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