CLIP4: CAP-Gly Domain Containing Linker Protein Family Member 4
A gene encoding a microtubule-associated protein involved in cytoskeletal dynamics and intracellular transport.
Gene Information Card
| Symbol | CLIP4 |
|---|---|
| Full Name | CAP-Gly Domain Containing Linker Protein Family Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 79745 ncbi.nlm.nih.gov/gene/79745 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9Y3Q0 |
| OMIM ID | 619019 |
| HGNC ID | 24688 |
| Aliases | CLIP-115, CLIP4_HUMAN, RSNL2 |
Description
CLIP4 encodes a member of the CAP-Gly domain-containing linker protein family. These proteins are involved in microtubule dynamics, linking microtubules to cellular structures and regulating intracellular transport. CLIP4 is expressed in various tissues and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of microtubule dynamics affecting neuronal migration and synaptic function | ClinVar: pathogenic variants in CLIP4 associated with neurodevelopmental disorders |
| Microcephaly | Impaired microtubule function leading to reduced brain size | OMIM: 619019 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 5.1 | Low |
| Heart | 4.2 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line, high expression |
| HeLa | 6.5 | Cervical cancer cell line |
| HEK293 | 4.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function, predicted to cause protein truncation |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Likely damaging, affects CAP-Gly domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • cytoskeleton |
| • intracellular transport | • protein localization |
| • cell division |
Pathways
• Microtubule dynamics
• Intracellular transport
Protein Summary
CLIP4 is a 115 kDa protein containing CAP-Gly domains that bind microtubules. It localizes to the plus ends of microtubules and regulates their dynamics, particularly in neurons. It interacts with other cytoskeletal proteins to facilitate vesicle transport and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLIP4 Knockout HEK293 Cell Line | EDJ-KQ12188 | Human | 79745 | Details Get a Quote |
| CLIP4 Knockout A-549 Cell Line | EDJ-KQ42153 | Human | 79745 | Details Get a Quote |
| CLIP4 Knockout HCT 116 Cell Line | EDJ-KQ42154 | Human | 79745 | Details Get a Quote |
| CLIP4 Knockout HeLa Cell Line | EDJ-KQ42155 | Human | 79745 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
