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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EVC2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID132884
Official gene symbolEVC2
Full nameEllis van Creveld syndrome 2
Aliases,LBN,
Gene summaryThis 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]
LocationChromosome: 4   Locus: 4p16.2-p16.1
Gene position5711275 - 5564146  Map Viewer
Gene orientationminus
Gene size147130 bp
Gene sequence
OMIM ID607261