Gene: EVC2

Alternate names for this Gene: LBN|WAD

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.2

Description of this Gene: EvC ciliary complex subunit 2

Type of Gene: protein-coding

rs1159758018 in EVC2 gene and Ellis-Van Creveld Syndrome PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

PMID 22190900 2011 Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

PMID 21199751 2010 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.

PMID 12571802 2003 Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

PMID 12468274 2002 A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.

PMID 19876929 2009 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26818569 2016 We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome.

PMID 21815252 2011 Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

PMID 26748586 2016 Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

PMID 19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

PMID 22406498 2012 Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.

PMID 26580685 2016 Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

PMID 23026208 2012 Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC.

PMID 27280866 2016 De novo mutations in autosomal recessive congenital malformations.

rs140854723 in EVC2 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs186725382 in EVC2 gene and Vascular Endothelial Growth Factor Measurement PMID 31217265 2019 Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns.

rs200300612 in EVC2 gene and Weyers acrofacial dysostosis PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

PMID 19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

PMID 19876929 2009 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.