Property Summary

NCBI Gene PubMed Count 24
Grant Count 20
R01 Count 15
Funding $3,867,307.22
PubMed Score 292.30
PubTator Score 38.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Gene RIF (17)

PMID Text
26621368 Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively.
26580685 sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families..
23220543 we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel.
23169490 Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis
23026208 Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling
21815252 In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father
21533779 Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes.
21199751 Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
20184732 A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates.
20087401 STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios.
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AA Sequence

MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGLRIPPGRSGAG      1 - 70
PESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLF     71 - 140
KRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANLSELLLLDSIA    141 - 210
GLTIWDSVGNRTSEGFQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVL    211 - 280
FSITAEENVTVLPHHGLHAAGFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTS    281 - 350
ADGVNEDLSLNDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHL    351 - 420
SPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGER    421 - 490
SAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAK    491 - 560
MLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQNLQSSETRVQGLLSTAAAQLTHLIQKHERA    561 - 630
GYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTV    631 - 700
EDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPW    701 - 770
LFLQQILEEHGKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSV    771 - 840
FSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPELQQQSKVRKS    841 - 910
RSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKASRVTE    911 - 980
TLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQQQALASWQQW    981 - 1050
VADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQ   1051 - 1120
ELRLASYLARMAMVPGATLRRLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQS   1121 - 1190
WWQALDGKLRGDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGA   1191 - 1260
ETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD                         1261 - 1308
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Text Mined References (24)

PMID Year Title
26621368 2016 Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
26580685 2016 Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
24582806 2014 EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
23169490 2013 Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
23026208 2012 Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
21815252 2011 Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21533779 2011 Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.
21199751 2010 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
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