CLIP2: CAP-Gly Domain Containing Linker Protein 2
A microtubule-associated protein involved in neuronal development and Williams syndrome
Gene Information Card
| Symbol | CLIP2 |
|---|---|
| Full Name | CAP-Gly domain containing linker protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 7461 ncbi.nlm.nih.gov/gene/7461 |
| Ensembl ID | ENSG00000106665 |
| UniProt ID | Q9UDT6 |
| OMIM ID | 603432 |
| HGNC ID | 2064 |
| Aliases | CLIP-115, CYLN2, KIAA0291 |
Description
CLIP2 encodes a member of the CAP-Gly domain-containing linker protein family. The protein binds to microtubules and is involved in regulating microtubule dynamics, particularly in neurons. CLIP2 is expressed in the brain and is implicated in neuronal migration and differentiation. Hemizygous deletion of CLIP2 within the Williams-Beuren syndrome critical region on chromosome 7q11.23 contributes to the neurological features of Williams syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams syndrome | Hemizygous deletion of CLIP2 within 7q11.23 leads to reduced protein expression, affecting microtubule dynamics in developing neurons. | OMIM #194050; NCBI Gene; ClinVar |
| Intellectual disability | CLIP2 haploinsufficiency contributes to cognitive deficits observed in Williams syndrome. | OMIM; PubMed studies |
| Supravalvular aortic stenosis | While primarily linked to ELN, CLIP2 deletion in the Williams syndrome region may contribute to vascular phenotypes. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 10.3 | Medium |
| Heart | 5.2 | Low |
| Skeletal muscle | 3.1 | Low |
| Testis | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
| HEK293 (embryonic kidney) | 6.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; start codon loss |
| c.1234C>T (p.Arg412*) | nonsense | <0.01% | Premature stop; loss of function |
| Whole gene deletion | copy number loss | Rare in general population | Haploinsufficiency; Williams syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; whole gene deletion causes haploinsufficiency.
Gain of Function (GOF)
Not reported for CLIP2.
Dominant Negative (DN)
Not reported for CLIP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule dynamics (Reactome: R-HSA-983231)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
CLIP2 is a 115 kDa microtubule-associated protein containing two CAP-Gly domains that mediate binding to microtubule plus ends. It regulates microtubule dynamics by promoting microtubule growth and preventing catastrophe. The protein is highly expressed in neurons and is essential for proper neuronal migration and cortical development. CLIP2 interacts with other microtubule-associated proteins such as CLIP1 and dynactin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLIP2 Knockout HEK293 Cell Line | EDJ-KQ3816 | Human | 7461 | Details Get a Quote |
| CLIP2 Knockout A-549 Cell Line | EDJ-KQ25944 | Human | 7461 | Details Get a Quote |
| CLIP2 Knockout HCT 116 Cell Line | EDJ-KQ25945 | Human | 7461 | Details Get a Quote |
| CLIP2 Knockout HeLa Cell Line | EDJ-KQ25946 | Human | 7461 | Details Get a Quote |
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