EVC2, Official Symbol EVC2provided by HGNC Official Full Name EvC ciliary complex subunit 2provided by HGNC Primary source HGNC:HGNC:19747 See related Ensembl:ENSG00000173040 MIM:607261; AllianceGenome:HGNC:19747 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LBN; WAD 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] Expression Ubiquitous expression in ovary (RPKM 2.2), endometrium (RPKM 1.3) and 22 other tissues See more Orthologs mouse all