Publication for EVC and EVC2

Species	Symbol	Function*	Entrez Gene ID*	Other ID	Gene coexpression	CoexViewer
hsa	EVC	EvC ciliary complex subunit 1	2121			[link]
hsa	EVC2	EvC ciliary complex subunit 2	132884

Pubmed ID	Priority	Text
17547743	0.98	EVC2 spans 166.4 kb and shares a common promoter region with EVC.
	0.97	EVC1 and EVC2 genes are associated with this syndrome.
	0.97	EVC and EVC2 mutations that, finally, confirmed that Weyers dysostosis represents the heterozygous expression of the mutation, which, in homozygous form, causes the autosomal recessive disorder EVC.
	0.97	EVC2, was identified in an Ashkenasi child, immediately adjacent to EVC (named EVC1 or EVC), in a head to head configuration.
	0.97	EVC1 and EVC2 do not account for the totality of EVC cases.
	0.96	EVC and EVC2 at either protein or nucleic levels.
	0.95	EVC and EVC2 are separated by only 1643 bp.
	0.89	EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative.
	0.79	EVC and EVC2 in a series of 65 EVC patients identified EVC mutations in 20 families and EVC2 mutations in 25 families.
	0.73	EVC or EVC2 genes also cause Weyers acrofacial dysostosis, an allelic disorder, showing autosomal dominant inheritance.
29229899	0.98	EVC or EVC2 .
	0.97	EVC and EVC2 proteins form a protein complex that localizes at the base of primary cilia and which acts as a positive regulator of Hedgehog (Hh) signaling, especially in chondrocytes.
	0.96	EVC or EVC2 is indistinguishable, and is characterized by variable expressivity even in individuals of the same family.
	0.96	EVC and EVC2 are two ciliary proteins that are not required for ciliogenesis, but are essential mediators of Hh signaling.
	0.95	EVC and EVC2 are essential for perichondrium formation and for the proliferation and differentiation of chondrocytes.
	0.95	EVC and EVC2, most of which introduce premature stop codons and therefore are predicted to lead to non-functional truncated proteins.
	0.77	EVC and EVC2 are mutated, has been shown to play an important role in intracardiac septation.
	0.56	EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35.
31645978	0.98	EVC and EVC2.
	0.98	EVC2 in siblings with a lethal phenotype of EvC. The former is likely to cause a splicing error on the boundary between intron 7 and exon 8, and the latter to produce an aberrant transcript resulting in premature termination.
	0.97	EVC, EVC2, DYNC2LI1, GLI1, and WRD35 have been reported in EvC. However, most affected individuals have EVC or EVC2 mutations.
	0.93	EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA.
	0.89	EvC remains to be elucidated in EvC. However, there is a report that phenotypic variability is related to variable alternative transcripts of EVC/EVC2 mutations in different tissues.
	0.79	EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA.
	0.72	EVC2 and EVC in patients with EvC are needed to facilitate the genotype-phenotype correlation of the disorder.
23798848	0.98	EVC gene, which was identified in 2000, controls the development of (codes for) EVC protein, while EVC2, which was identified in 2002, codes for a protein called limbin.
	0.96	EVC and EVC2, which play a role in the development of cilia.
	0.96	EVC individuals with mutations in EVC or EVC2 are phenotypically indistinguishable.
	0.96	EVC and EVC2 genes by direct sequencing.
	0.95	EVC, and in year 2002, EVC2 gene was identified to be associated with this syndrome.
	0.93	EVC and EVC2 gene is responsible for this syndrome.
28027321	0.98	Evc2 that mimics mutations seen in EvC patients, leads to compromised but not abrogated Hedgehog signaling.
	0.97	EVC/EVC2 based on biochemical approaches and symptoms found in the EvC patients, and thus provide insight for better options to treat dwarfism found in EvC patients.
	0.97	EvC patients or in Evc/Evc2 mutant mice.
	0.93	EVC/EVC2 in transducing Hedgehog signaling, except for short limbs, the aforementioned severe defects are observed neither in EvC patients nor in Evc and Evc2 mutant mice.
	0.83	EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling.
	0.73	EvC patients carry mutations in either EVC or EVC2.
18947413	0.98	EvC, microsatellite markers were used to test for linkage to the EVC/EVC2 locus.
	0.96	EVC and EVC2 could not exclude linkage to this locus and therefore the genes were considered as candidates (Fig. 1).
	0.92	EVC and EVC2.
	0.76	EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1) elements has been described in a consanguineous Egyptian family (Table 3).
	0.63	EVC and EVC2 genes, located in a head-to-head configuration, have been associated with this syndrome.
23725801	0.98	Evc and Evc2 localize to a region lying above the transition zone and act downstream of Smo to relay the Hh signal to a subsequent step that involves Sufu/PKA.
	0.97	Evc/Evc2(+) domain on the cilium.
	0.97	Evc/Evc2 and the mild phenotypes associated with Evc/Evc2 mutations in mammals raise the question of whether Evc/Evc2 merely represent a tissue-specific mode of Hh regulation.
	0.76	Evc/Evc2 complex was found to co-localize with Smo within the EvC-expressing zone and can also physically associate with Smo (at least with crosslinker) in response to Hh pathway activation.
29370865	0.98	EVc1 and EVc2: Parameters for explaining the effects of food on fenofibrate absorption)
	0.54	EVc1, EVc2) were - 0.394 and - 0.461, respectively.
31338997	0.98	EVC, biallelic nonsense and/or frameshift mutations in the EVC or EVC2 are likely to result in NMD or truncated proteins, and thus lead to EVC in a loss-of-function mechanism.
	0.90	EVC, homozygous or compound heterozygous mutations of the EvC ciliary complex subunit 1 gene (EVC, OMIM 604831) or the EvC ciliary complex subunit 2 gene (EVC2, OMIM 607261) are accused to be the culprits.
24996003	0.97	EVC1 and EVC2 levels in CADM1 versus CD7 plot subpopulations.
	0.95	EVC1 and EVC2, as well as the HH target gene PTCH1 (Fig.3c).
	0.91	EVC1, EVC2 or GLI transcription factors in the HH cascade.
	0.90	EVC1 transcription start site [TSS]; +905 to +1206 from EVC2 TSS).
	0.84	EVC1 and EVC2 were strikingly overexpressed in ATL patient samples, which had a relationship to disease progression (Fig.1a,b).
	0.83	EVC1 or EVC2 attenuated ATL cell proliferation (Fig. S2).
	0.81	EVC1 and EVC2 (Fig.2d).
	0.69	Ellis Van Creveld syndrome 1 (EVC1) and EVC2, which belong to the EVC family of genes that are implicated in HH regulation.
	0.68	EVC1 and EVC2, or shRNA targeting GLI1 and GLI2, then cultured for 27 days together with uninfected cells.
	0.66	EVC1 and EVC2 represented diminished HH activity in TL-Om1 and MT-2 cells (Fig.5d,e).
	0.60	EVC1 and EVC2 were significantly expressed in the CADM1+/CD7- tumorous population (Fig.1f).
	0.56	EVC1 and EVC2.
20087401	0.97	EVC [Entrez gene ID 2121] and EVC2 [Entrez gene ID 132884] are novel and intriguing candidate genes for oral clefts.
	0.96	EVC and in the intergenic region between EVC and EVC2 (data not shown).
	0.86	EVC and EVC2 are arranged head to head on the chromosome, separated by less than 3kb, and appear to have a common promoter sequence.
	0.83	EVC and EVC2) cause Ellis-Van Creveld Syndrome [MIM 22550] or Weyers acrofacial dysostosis [MIM 193530] and CRMP1 is a suppressor of tumor cell invasion controlling neural development and axonal growth.
	0.75	EVC2, EVC and CRMP1 in CL/P trios from 4 populations.
	0.63	EVC2-EVC-CRMP1 gene cluster included 100 polymorphic SNPs (of 106 tested, Supplemental Table 1) and showed evidence of linkage and association, though once again the location of statistical signals varied by population (Figure 4).
	0.62	EVC2 also has a transmembrane domain, but is not homologous to EVC.
	0.57	EVC/EVC2/CRMP1 region, and the STX18/MSX1 region.
24983964	0.97	EVC, EVC2, SLC2A9, NKX3-2, and HMX1.
	0.97	EVC, EVC2 and SLC2A9 are critical factors in the development or survival of cartilage.
	0.96	EVC, EVC2, SLC2A9, NKX3-2 and HMX1 genes for this isolated microtia pedigree.
	0.91	EVC, EVC2, HMX1, HTRA3, NKX3-2, CC2D2A, CRMP1, DRD5, and SLC2A9.
	0.72	EVC, EVC2, NKX3-2, and HMX1, are closely related to facial development.
20844756	0.97	EVC2 and EVC were considered as candidate genes to influence the bone tissue.
	0.96	EVC2 and EVC may be relevant to the form of mandibular prognathism.
	0.90	EVC and EVC2.
26064711	0.97	EVC and EVC2 genes.
	0.96	EvC genes (EVC and EVC2) found on chromosome 4p16 in around two-thirds of the cases.
	0.87	EVC or EVC2 genes have been reported in the literature with the majority causing premature termination codons.
26219237	0.97	EvC patients and Evc2 mutant mice are due to altered functions of EVC2 in chondrocytes.
	0.74	EvC patients have mutations in either EVC or EVC2 gene, both of which are located in the human chromosome 4p in a head-to-head configuration.
27933191	0.97	EVC1 and EVC2 genes on chromosome 4p16, which are expressed in the heart, placenta, lung, liver and skeletal muscle.
32245491	0.97	Ellis-van Creveld syndrome protein 2 (Evc/Evc2) complex (a complex that regulates chondrocyte proliferation and differentiation of osteoblasts) in which Sufu-Gli2/3 complex moves to the tip of the cilia where Sufu dissociates from Gli2/3.
20184732	0.96	EVC gene for the case index in family 2 (Figure 3B) and a deleted G (c.981delG; p.K327fs) in exon 8 of EVC2 gene for the index case of family 3 (Figure 3C); presence of these mutations in members of those families have been previously reported.
	0.95	EvC underlying gene was mapped to chromosome 4p16 and mutations have been found in the EVC gene by Ruiz-Perez et al.. Mutations in a second gene EVC2, which is arranged in a head to head orientation with the EVC gene on chromosome 4, have also been identified as causative of the disease in a number of patients.
	0.94	EVC and EVC2 genes in the 4th family could indicate incorrect diagnosis or molecular heterogeneity of the condition.
	0.93	EVC and EVC2 genes in this family is due to genetic heterogeneity of this disorder as was suggested by Tompson et al. who sequenced EVC and EVC2 genes in 65 individuals affected by EvC. They reported mutations in either EVC or EVC2 in only two thirds of their patients with the remaining of unknown molecular cause.
	0.91	EVC and EVC2 genes was conducted by analyzing the DNA sequencing chromatograms for heterozygosity and alignment of the obtained sequence for each amplicon with its corresponding original genomic sequence http://genome.ucsc.edu/ using ClustalW2 http://www.ebi.ac.uk/Tools/clustalw2/index.html.
	0.88	EVC gene has 21 coding exons that produce a 992 amino acid protein, EVC2 gene has 22 coding exons and encodes a 1,308 amino acid protein without any homology to each other or to any other protein family.
	0.62	EVC and EVC2 in two thirds of EvC patients suggesting molecular heterogeneity of this condition and the possibility of the involvement of other gene(s).
25172843	0.96	EVC has been linked to a mutation in two adjacent genes on chromosome 4 known as EVC and EVC2 that participate in the development of cilia.
	0.96	EVC gene encodes for EVC protein, while EVC2 codes for another protein called limbin.
	0.96	EVC/EVC2 in a signaling microdomain at the base of the primary cilium.
	0.95	EVC/EVC2 forms a complex with SMO that in turn is tethered by a complex of EFCAB7 and IQCE anchoring the EVC-EVC2 complex in a signaling microdomain at the base of the primary cilium.
	0.94	EVC/EVC2 to activate Gli proteins by antagonizing Sufu.
	0.83	EVC2 signaling complex that localizes to the EvC zone in a distinct portion of the membrane compartment in primary cilia.
29068549	0.96	EVC and EVC2 are known to result in recessively inherited EVC syndrome and autosomal dominant Weyers Acrofacial Dysostosis .
	0.95	EVC/EVC2 mutations appeared to be more severe than might be expected for EVC, elements of the EVC phenotype were evident.
	0.92	EVC mutations were found in four families and EVC2 mutations in six families.
	0.90	EVC, EVC2) that encode basal body proteins, the NEK1 kinase gene and the gene encoding its interacting protein C21ORF2, the ICK MAP-like kinase gene, the INTU planar cell polarity (PCP) gene, the KIAA0586 centrosomal protein gene and the CEP120 core centriolar protein gene have also been reported.
	0.70	EVC and EVC2 mutations can result in severe skeletal abnormalities
21356043	0.96	Evc and Evc2 proteins in mammalian cells to test for their interaction by co-immunoprecipitation (Co-IP).
	0.93	Evc2 is in close proximity in divergent orientation to Evc and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld syndrome.
	0.86	Evc amino acids 463 - 1005 and Evc2 amino acids 250 - 671) in HEK 293 cells with Flag and Myc-tags, respectively, to test whether Evc and Evc2 interact in a mammalian expression system.
29459677	0.96	EvC zone proteins EVC and EVC2 cause the ciliopathy Ellis-van Creveld syndrome.
30805457	0.95	EVC and EVC2 have a role in the development of the atrioventricular structure.
	0.93	EVC and EVC2 form a ciliary protein complex that interacts with Smo to allow the dissociation of Sufu/Gli3 inhibitory complexes and recruitment of Gli factors at the end of the cilia.
	0.66	EVC and EVC2 genes on chromosome 4p16 are responsible for the syndrome.
26251756	0.95	EVC and EVC2 genes, located in the head-to-head configuration on chromosome 4p16, have been identified as causative.
	0.95	EVC versus EVC2 genes is indistinguishable.
28854412	0.95	EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium.
	0.95	EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium.
31217265	0.95	EVC (EvC ciliary complex subunit 1), EVC2 (EvC ciliary complex subunit 2) and STK32B (serine/threonine kinase 32B).
28950429	0.94	EVC and EVC2 at the molecular level and the wide spectrum of clinical presentations in EvC patients, the existing documentations of the craniofacial manifestations of EvC syndrome are quite inconsistent.
	0.93	Evc2 m and Evc2 cko had a gross morphology similar to those seen in EvC patients as well as in the Evc mutant mice.
	0.88	EvC patients, we use micro-CT based skull modeling to generate three-dimensional surfaces models for the Evc2 mutant mice.
	0.56	EVC and EVC2 as causative genes, which are responsible for around two thirds of identified cases of EvC syndrome in humans.
25506500	0.93	EVC/EVC2.
	0.85	EVC/EVC2, CSPP1 and NEK1 localize to the base of the cilium and TCTN3 is found at the ciliary transition zone.
	0.65	EVC (EVC, EVC2), SRPS-II (NEK1), OFD4 (TCTN3), and SRPS-V (WDR35), while in other cases and for subjects where targeted sequencing of the major causative gene does not reveal any mutations, gene panel analysis seems more appropriate.
27168972	0.92	EVC2 gene detected in this case, combined with the reported US findings in the fetus provide an almost unequivocal diagnosis of EVC, and novel mutations with variable expressivity are very often uncovered in newly investigated patients.
	0.89	EVC2 gene are known to be the cause of autosomal recessive Ellis-van Creveld syndrome (EVC, OMIM 225500) and autosomal dominant Weyers acrodental dysostosis (MIM 193530), rare malformation syndromes with a number of common phenotypic features, which include limb malformations (e.g., syndactyly, polydactyly).
24733244	0.92	EVC and EVC2 genes.
26130459	0.91	EVC/EVC2 = Ellis-van Crefeld syndrome and WAD; NEK1 = SRTD6; TTC21B = SRTD4; IFT80 = SRTD2; IFT43 = CED3; IFT122 = CED1; IFT140 = SRTD9; IFT172 = SRTD10; WDR19 = SRTD5 and CED4; WDR35 = SRTD7 and CED2; WDR34 = SRTD11; WDR60 = SRTD8; DYNC2H1 = SRTD3; DYNC2LI1 = novel intermediate phenotype of our patients).
	0.56	EVC, EVC2).
26405049	0.91	Evc and its partner Evc2 are positive mediators of Shh signalling that form a complex with Smo to transduce the Hh signal via primary cilia, suggesting that impaired Hh signalling in EvC patients may be protective against BPAD.
30410447	0.91	EVC and EVC2, and homozygous mutations in either have been linked to two-thirds of EvC patients.
24582806	0.90	EVC2 becomes a dominant inhibitor of Hh signaling and fails to be restricted to the EvC zone, instead being distributed along the length of the ciliary membrane.
	0.55	EvC complex on anti-YFP beads but not on control beads from extracts of 293T cells simultaneously transfected with constructs encoding YFP-tagged EVC2 along with EVC, IQCE and EFCAB7.
26973699	0.90	Evc/Evc2 does not affect Shh-induced Smo phosphorylation and ciliary localization but blocks Hh pathway activation mediated by constitutively active forms of Smo, suggesting that Evc and Evc2 are recruited to activate Gli proteins by antagonizing Sufu in the primary cilia.
	0.85	EVC-EVC2 at the base of cilium, and Smo-Evc signaling complex is required for Hh signal transmission.
22232726	0.90	EVC gene as well as by a mutation in a nonhomologous gene, EVC2, located close to EVC gene in a head-to-head configuration.
22981989	0.90	Evc2DeltaW is a dominant-negative protein in Weyers patients because it is dispersed throughout the ciliary membrane rather than being restricted to the EvC zone.
25628672	0.89	EVC (OMIM # 225500), is caused by a mutation in the EVC1 gene or a mutation in a non-homologous gene, EVC2, which is located close to EVC gene in a head-to-head configuration.
29607224	0.89	EVC) is a rare autosomal recessive disorder with characteristic clinical manifestations, resulting from a genetic mutation in two genes, EVC1 and EVC2, mapping both in locus 16 on the short arm of chromosome 4 (4p16) in a head-to-head configuration.
27164562	0.88	EvC patients had mid-facial deficiency may be likely due to the effect of EVC2/EVC on these craniofacial bone structure growth.
29548942	0.87	EvC2 form a complex restricted to a distinct ciliary compartment called the EvC zone.
	0.80	EvC and EvC2) are two additional proteins that localize to the cilium, impact Hh signaling, and when mutated result in a human ciliopathy (Ellis van-Creveld syndrome).
27076836	0.85	EVC1and EVC2 genes and shows autosomal recessive inheritance with parental consanguinity in about 30% of cases.
27090777	0.84	EvC and WAD patients have mutations in either EVC or EVC2 gene, both of which are located on human chromosome 4p16 in a head-to-head configuration.
21898032	0.82	EVC and EVC2, located in a head-to-head configuration on chromosome 4p16, have been identified as causative in individuals affected with EVC.
28574612	0.72	EVC-EVC2 complex in a signaling microdomain at the base of the cilia.
27453244	0.70	EVC/EVC2/SRTD1/IFT80/DYNC2H1/TTC21B/WDR19/NEK1/WDR35/WDR60/IFT140/IFT172/WDR34/CEP120/KIAA0586.
20830486	0.64	EVC and EVC2) on chromosome 4p16 have been identified to be responsible for the EVC phenotype.
22267994	0.61	EVC, which is mapped to chromosome 4p16.1 or caused by mutations in a second gene, called EVC2, which gives rise to the same phenotype of the syndrome.