EVC2
Gene Information
- Official Symbol: EVC2
- Official Name: EvC ciliary complex subunit 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 132884
- UniProt: Q86UK5
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
- UniProt Summary: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6681
- Expression level (log2 read counts): 0.53
EVC2 Expression in NALM6 Cells: 0.53
