CCM2L
CCM2 Like Scaffold Protein
Gene Information Card
| Symbol | CCM2L |
|---|---|
| Full Name | CCM2 Like Scaffold Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T0D9 |
| OMIM ID | 616046 |
| HGNC ID | 33826 |
| Aliases | MGC26733, C20orf160 |
Description
CCM2L (CCM2 Like Scaffold Protein) is a protein-coding gene located on chromosome 20q11.22. It encodes a scaffold protein that shares structural similarity with CCM2, a key component of the cerebral cavernous malformation (CCM) signaling complex. CCM2L is involved in the regulation of endothelial cell junction integrity and angiogenesis, and its dysfunction may contribute to vascular malformations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebral Cavernous Malformation (CCM) | CCM2L may modulate CCM2 signaling; loss of function disrupts endothelial barrier integrity | Limited; inferred from homology to CCM2 (OMIM #603284) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
| Lung | 1.5 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 3.1 | Moderate expression |
| HEK293 | 2.0 | Low expression |
| HeLa | 1.4 | Low 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% | Potential loss of start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Predicted loss-of-function variants may impair scaffold function in CCM signaling.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • scaffold protein activity | • cell junction organization |
| • angiogenesis | • signal transduction |
Pathways
• CCM signaling pathway
• VEGF signaling pathway
Protein Summary
CCM2L is a scaffold protein that interacts with components of the CCM complex, including CCM2 and KRIT1. It is expressed in endothelial cells and plays a role in maintaining vascular integrity. The protein contains a phosphotyrosine-binding (PTB) domain that mediates protein-protein interactions critical for junctional stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCM2L Knockout HEK293 Cell Line | EDJ-KQ9804 | Human | 140706 | Details Get a Quote |
| CCM2L Knockout HeLa Cell Line | EDJ-KQ58452 | Human | 140706 | Details Get a Quote |
| CCM2L Knockout A-549 Cell Line | EDJ-KQ66938 | Human | 140706 | Details Get a Quote |
| CCM2L Knockout HCT 116 Cell Line | EDJ-KQ75340 | Human | 140706 | Details Get a Quote |
