EVC2

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]

Description

EvC ciliary complex subunit 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Microtubules, Cytokinetic bridge, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

4 (5542772 - 5709548)

Ensembl ID

ENSG00000173040  (ver. 103.38)

Orthologs

Mouse Evc2: ENSMUSG00000050248

UniProt

Q86UK5

neXtProt

NX_Q86UK5

Human splice variants
Mouse splice variants

Protein structure