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.
|Gene References into Functions
- he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
- sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families.. PMID: 26580685
- Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. PMID: 26621368
- we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel. PMID: 23220543
- Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling PMID: 23026208
- Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. PMID: 21533779
- In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father PMID: 21815252
- Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. PMID: 21199751
- STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios. PMID: 20087401
- A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates. PMID: 20184732
- The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. PMID: 19810119
- EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome PMID: 12468274
- Mutations in this gene cause Ellis-van Creveld syndrome. PMID: 12571802
- Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. PMID: 16404586
- EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731
|Involvement in disease
||Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)
||Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.
||Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.