EVC2, EvC ciliary complex subunit 2

EVC2, EvC ciliary complex subunit 2

• 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]

• Gene Synonyms (LBN, WAD, limbin, Ellis van Creveld syndrome 2, ellis-van Creveld syndrome protein 2,)
• NCBI Gene ID: 132884
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q86UK5
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

EvC ciliary complex subunit 2 interacts with:

• NudC domain containing 2
  RAB, member of RAS oncogene family like 3
  STT3 oligosaccharyltransferase complex catalytic subunit B
  transmembrane protein 199
  vacuolar ATPase assembly factor VMA21

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.