EVC2 Gene
EVC2 Ciliary Complex Subunit 2
Gene Information Card
| Symbol | EVC2 |
|---|---|
| Full Name | EVC2 ciliary complex subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.2 |
| NCBI Gene ID | 132884 ncbi.nlm.nih.gov/gene/132884 |
| Ensembl ID | ENSG00000173040 |
| UniProt ID | Q86UK5 |
| OMIM ID | 607261 |
| HGNC ID | 19747 |
| Aliases | LBN, WAD, WAD2 |
Description
The EVC2 gene encodes a component of the EvC ciliary complex, which is essential for primary cilia function and Hedgehog signaling. Mutations in EVC2 are associated with Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ellis-van Creveld syndrome | Loss-of-function mutations disrupt ciliary Hedgehog signaling, leading to skeletal and cardiac defects. | OMIM #225500 |
| Weyers acrofacial dysostosis | Heterozygous mutations cause dominant-negative effects on ciliary function. | OMIM #193530 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.8 | Low |
| Heart | 1.2 | Low |
| Kidney | 0.5 | Low |
| Lung | 0.6 | Low |
| Testis | 0.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.3 | Low expression |
| K562 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2053C>T (p.Arg685*) | Nonsense | Rare | Loss of function |
| c.271delC (p.Leu91Trpfs*5) | Frameshift | Rare | Loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Heterozygous missense mutations in Weyers acrofacial dysostosis may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 | • GO:0005929 |
| • GO:0007224 | • GO:0036064 |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
Protein Summary
EVC2 is a transmembrane protein localized to the primary cilium. It forms a complex with EVC to mediate Hedgehog signal transduction, crucial for embryonic development, particularly limb and skeletal patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVC2 Knockout HEK293 Cell Line | EDJ-KQ894 | Human | 132884 | Details Get a Quote |
| EVC2 Knockout A-549 Cell Line | EDJ-KQ19736 | Human | 132884 | Details Get a Quote |
| EVC2 Knockout HeLa Cell Line | EDJ-KQ58321 | Human | 132884 | Details Get a Quote |
| EVC2 Knockout HCT 116 Cell Line | EDJ-KQ75211 | Human | 132884 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
