Fam193a

Homo sapiens

ASSOCIATED WITH cherubism; Ellis-Van Creveld syndrome; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; acrolein; Aflatoxin B2 alpha

Evc

Homo sapiens

This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

Stk32b

Homo sapiens

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ifta-1

Caenorhabditis elegans

Involved in chemotaxis; intraciliary transport; and non-motile cilium assembly. Located in axoneme and ciliary basal body. Expressed in amphid neurons; inner labial neurons; outer labial neurons; and phasmid neurons. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly. Is an ortholog of human WDR35 (WD repeat domain 35).

Evc

Rattus norvegicus

Involved in cartilage development. Predicted to be located in ciliary basal body. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; Weyers acrofacial dysostosis; and ventricular septal defect. Orthologous to human EVC (EvC ciliary complex subunit 1); INTERACTS WITH aflatoxin B1; atrazine; bisphenol A.

Evc2

Rattus norvegicus

Predicted to be involved in smoothened signaling pathway. Predicted to be located in cilium and nucleus. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; bisphenol A.

Evc2

Homo sapiens

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]

Wdr35

Rattus norvegicus

Involved in several processes, including liver regeneration; negative regulation of biosynthetic process; and positive regulation of release of cytochrome c from mitochondria. Predicted to be located in centrosome and ciliary basal body. Predicted to be part of intraciliary transport particle A. Predicted to be active in axoneme. Biomarker of liver cirrhosis. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly. Orthologous to human WDR35 (WD repeat domain 35); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3-Dioxo-6-nitro-7-sulfamoylbenzo(f)quinoxaline; aflatoxin B1.