CASKIN2 Gene - Caskin-2 Scaffold Protein
Comprehensive genomic and functional overview of CASKIN2, a scaffold protein involved in neuronal signaling and cancer.
Gene Information Card
| Symbol | CASKIN2 |
|---|---|
| Full Name | CASK interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 57513 ncbi.nlm.nih.gov/gene/57513 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q8WXE0 |
| OMIM ID | 618722 |
| HGNC ID | 28978 |
| Aliases | KIAA1131, FLJ20035 |
Description
CASKIN2 encodes a scaffold protein that interacts with CASK (calcium/calmodulin-dependent serine protein kinase) and is involved in neuronal development, synaptic function, and intracellular signaling. It contains ankyrin repeats, SH3 domains, and a guanylate kinase-like domain, facilitating protein-protein interactions in the postsynaptic density. CASKIN2 is also implicated in cancer through altered expression and potential oncogenic signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of CASKIN2-mediated synaptic scaffolding may impair neuronal signaling; rare variants reported in patients with neurodevelopmental disorders. | ClinVar, OMIM |
| Breast cancer | Overexpression of CASKIN2 in breast tumors correlates with poor prognosis; may promote cell migration via CASK interaction. | COSMIC, NCBI Gene |
| Colorectal cancer | CASKIN2 upregulation observed in colorectal cancer tissues; potential role in Wnt/β-catenin pathway modulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Breast | 3.7 | Low |
| Colon | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model; high expression |
| MCF7 (breast cancer) | 8.1 | Moderate expression |
| HCT116 (colorectal cancer) | 6.4 | Moderate expression |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of scaffold domain |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; predicted benign by SIFT |
| c.2101_2102insA (p.Thr701Asnfs*5) | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Thr701Asnfs*5) lead to truncated protein lacking functional domains, impairing scaffold activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CASKIN2.
Dominant Negative (DN)
No evidence for dominant-negative effects; CASKIN2 mutations are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • scaffold protein activity | • protein binding |
| • synaptic signaling | • neuron projection development |
| • postsynaptic density assembly |
Pathways
• CASK signaling pathway
• Neuronal development and synaptic plasticity
• Wnt signaling (potential)
Protein Summary
CASKIN2 is a 1,200-amino-acid scaffold protein containing ankyrin repeats, SH3 domains, and a guanylate kinase-like domain. It localizes to the postsynaptic density and interacts with CASK, regulating synaptic protein clustering and signal transduction. In cancer, CASKIN2 overexpression may enhance cell motility and invasion. The protein is predominantly expressed in brain and testis, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASKIN2 Knockout HEK293 Cell Line | EDJ-KQ12731 | Human | 57513 | Details Get a Quote |
| CASKIN2 Knockout A-549 Cell Line | EDJ-KQ41828 | Human | 57513 | Details Get a Quote |
| CASKIN2 Knockout HCT 116 Cell Line | EDJ-KQ41829 | Human | 57513 | Details Get a Quote |
| CASKIN2 Knockout HeLa Cell Line | EDJ-KQ41830 | Human | 57513 | Details Get a Quote |
