Property Summary

NCBI Gene PubMed Count 28
PubMed Score 133.88
PubTator Score 30.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -2.200 6.3e-08
osteosarcoma 1.064 2.0e-05

Protein-protein Interaction (5)

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.
24996003 The epigenetically deregulated EVC appears to play an important role for hedgehog activation.
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.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20087401 STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.
20087401 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19810119 The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect.
19744229 We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene
19251731 EVC and LBN play roles in cardiovascular development and disease.
19115052 Observational study of gene-disease association. (HuGE Navigator)
18947413 EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical Ellis van Creveld syndrome
18454448 In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected
15492864 CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene.

AA Sequence

MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKDDTQNLLKNLE      1 - 70
SNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVIYPINQKFRPLADGSSNPSLH     71 - 140
ENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHSATSDDRFLSRTFLRVNAFPEVLACESVDVD    141 - 210
LCIYSLHLKDLLHLDTALRQEKHMMFIQIFKMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKL    211 - 280
SNTEMSGAGDSEYITLADVEKKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERM    281 - 350
IAAEGLLCDSQELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEE    351 - 420
LLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPTADPEKFLEAF    421 - 490
HEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQE    491 - 560
VQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLREDHEGTIRGVLGRLGGLTEES    561 - 630
TRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALE    631 - 700
ARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRT    701 - 770
LMEAAVESVYVTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRT    771 - 840
AGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQNFISELAALA    841 - 910
RVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLSQQESEAGDSG    911 - 980
NSKKMLKRRSNL                                                              981 - 992
//

Text Mined References (27)

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.
24996003 2014 Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia.
24582806 2014 EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
22219177 2012 A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
21356043 2011 Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
21199751 2010 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20087401 2010 Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
19115052 2009 Common variations in 4p locus are related to male completed suicide.
18947413 2008 Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
18454448 2008 Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
15492864 2004 Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.
15368503 2004 Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
12571802 2003 Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10802674 2000 Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome"
10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8661097 1996 The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.