EVC Gene - Ellis-van Creveld Syndrome
Official Symbol: EVC - Provided by HGNC
Gene Information Card
| Symbol | EVC |
|---|---|
| Full Name | EvC ciliary complex subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.2 |
| NCBI Gene ID | 2121 ncbi.nlm.nih.gov/gene/2121 |
| Ensembl ID | ENSG00000172995 |
| UniProt ID | P57723 |
| OMIM ID | 604831 |
| HGNC ID | 3497 |
| Aliases | EVC1, EvC-1, DWF-1 |
Description
The EVC gene encodes a component of the EvC ciliary complex, which localizes to the primary cilium and is required for normal hedgehog signaling. This protein interacts with EVC2 and is essential for limb and skeletal development. Mutations in EVC are primarily 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, impairing skeletal and ectodermal development. | ClinVar, OMIM |
| Weyers acrofacial dysostosis | Heterozygous missense or truncating mutations cause dominant-negative or haploinsufficient effects on ciliary function. | ClinVar, OMIM |
| Short rib-polydactyly syndrome (rare) | Biallelic EVC mutations impair ciliogenesis and hedgehog pathway activity. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
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; truncation of C-terminal domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
| c.1798G>A (p.Gly600Arg) | Missense | Rare | Likely loss of function; disrupts ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Most EVC mutations are loss-of-function, leading to reduced or absent protein, impairing hedgehog signaling and causing Ellis-van Creveld syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for EVC.
Dominant Negative (DN)
Some heterozygous missense mutations in Weyers acrofacial dysostosis may act via dominant-negative effects on the EvC complex.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • hedgehog signaling pathway |
| • protein localization to cilium | • limb morphogenesis |
| • ossification |
Pathways
• Hedgehog signaling pathway (ciliary)
• Ciliopathies
Protein Summary
The EVC protein is a 992-amino acid ciliary component that forms a complex with EVC2 at the base of the primary cilium. It is essential for the transduction of hedgehog signals, particularly in developing limbs and skeleton. The protein contains a transmembrane domain and localizes to the ciliary transition zone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVC Knockout HEK293 Cell Line | EDJ-KQ893 | Human | 2121 | Details Get a Quote |
| EVC2 Knockout HEK293 Cell Line | EDJ-KQ894 | Human | 132884 | Details Get a Quote |
| EVC Knockout A-549 Cell Line | EDJ-KQ19734 | Human | 2121 | Details Get a Quote |
| EVC Knockout HeLa Cell Line | EDJ-KQ19735 | Human | 2121 | 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 |
| EVC Knockout HCT 116 Cell Line | EDJ-KQ70140 | Human | 2121 | Details Get a Quote |
| EVC2 Knockout HCT 116 Cell Line | EDJ-KQ75211 | Human | 132884 | Details Get a Quote |
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