EvC Ciliary Complex Subunit 2

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OMIM Number




Uniprot ID



175,152 bases

No. of Exons


No. of isoforms


Protein Name


Molecular Mass

147948 Da

Amino Acid Count


Genomic Location


Gene Map Locus


The EVC2 gene encodes limbin, which is a component of the EvC complex. This protein is involved in the regulation of ciliary Hedgehog signaling and has a role in bone formation and skeletal development. Defects in EVC2 gene lead to the development of Ellis-van Creveld syndrome. It is not clear how EVC2 gene contribute to the development of this condition. However, recent research has shown that the gene is active in the embryonic and fetal stages and may plays an important role in the development of organs, such as the heart, kidneys, and lungs, apart from bones. Mutations in the EVC2 gene is also responsible for a milder condition called Weyers acrodental dysostosis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_147127.5:c.2012_2015delTAATLebanonchr4:5625780_5625783PathogenicEllis-van Creveld SyndromeNG_015821.1:g.88763del TAAT; NM_147127.5:c.2012_2015delTAAT; NP_667338.3:p.Leu671Ter
NM_147127.5:c.2047-1G>TUnited Arab Emirates; ...NC_000004.12:g.5622992C>ALikely PathogenicEllis-van Creveld SyndromeNG_015821.1:g.91557G>T; NM_147127.5:c.2047-1G>T; NP_667338.3:p.?1471439757
NM_147127.5:c.2653C>TAlgeria; Bahrain; Como...NC_000004.12:g.5618531G>APathogenicLikely Pathogenic, PathogenicEllis-van Creveld SyndromeNG_015821.2:g.96017C>T; NM_147127.5:c.2653C>T; NP_667338.3:p.Arg885Ter14653890630665
NM_147127.5:c.3870_3893dupSaudi ArabiaNC_000004.12:g.5562882_5562905dupLikely PathogenicLikely PathogenicEVC2 Associated Meckel Gruber SyndromeNG_015821.1:g.151644_151667dup; NM_147127.5:c.3870_3893dup; NP_667338.3:p.Lys1293_Lys1300dup730882232183329
NM_147127.5:c.981delGEgyptchr4:5665539Ellis-van Creveld SyndromeNG_015821.1:g.49010delG; NM_147127.5:c.981delG; NP_667338.3:p.Gly328Glufs*27

Other Reports


Temtamy et al. (2008) reported affected individuals with both the EVC and EVC2 genes inactivated on each allele. Affected subjects were born to a consanguineous family diagnosed with EvC and borderline intelligence. Temtamy et al. (2008) detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the deletion are deficient in EVC and EVC2 and have no increase in the severity of the EvC typical features. Similarly deletion carriers demonstrate absence of digenic inheritance in EvC. Temtamy et al. (2008) suggested that the EVC-STK32B deletion also leads to mild mental retardation and reveals that loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit. In an EvC compound heterozygote of different ethnic origin, Temtamy et al. (2008) identified the same LINE-to-LINE rearrangement due to a different recombination event.

Saudi Arabia

Shaheen et al. (2013) determined the underlying gene defect in 18 Saudi families affected by Meckel-Gruber syndrome (MKS).  All 18 families recruited to the study were consanguineous.  DNA was obtained from both affected and unaffected members.  When an autozygome guided mutation analysis of known MKS genes failed to uncover any mutations in some of the families, an exome sequencing was carried out.  Exomes were then searched for compound heterozygous mutations in known MKS genes. Failing that, all detected variants were filtered for homozygous novel changes within the autozygome. By this approach, a novel mutation was identified in EVC2, c.3870_3893dup (p.Lys1293_Lys1300dup). This mutation was not found in dbSNP, 1000 genomes or 200 Saudi controls. EVC2 had not previously been associated with MKS, and hence, this investigation helped expand the genetic heterogeneity of the disorder.  

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