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Browse our Ellis Van Creveld Syndrome 2 Proteins (EVC2)

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Ellis Van Creveld Syndrome 2 Proteins (EVC2)
On www.antibodies-online.com are 7 Ellis Van Creveld Syndrome 2 (EVC2) Proteins from 2 different suppliers available. Additionally we are shipping Ellis Van Creveld Syndrome 2 Antibodies (28) and many more products for this protein. A total of 37 Ellis Van Creveld Syndrome 2 products are currently listed.
Synonyms:
1110017L09Rik, EVC2, Lbn, limbin
list all proteins Gene Name GeneID UniProt
EVC2 132884 Q86UK5
EVC2 68525 Q8K1G2
EVC2 280834 Q8MI28

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Ellis Van Creveld Syndrome 2 Proteins (EVC2) by Origin

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Human Ellis Van Creveld Syndrome 2 (EVC2) interaction partners

  1. 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 (show EVC Proteins) gene in the two families..

  2. Sequencing of both EVC (show EVC Proteins) 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 (show EVC Proteins), which were inherited from mother and father, respectively.

  3. Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS (show MKS1 Proteins) disease genes-C5orf42, EVC2 and SEC8 (show EXOC4 Proteins) (also known as EXOC4 (show EXOC4 Proteins)), which encodes an exocyst protein with an established role in ciliogenesis

  4. we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel.

  5. Identification of a novel genotype in EvC (show EVC Proteins) will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC (show EVC Proteins) but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling

  6. Emerging molecular and developmental studies suggest that EVC (show EVC Proteins) and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes.

  7. 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

  8. Molecular analysis of the EVC (show EVC Proteins) and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.

  9. STK32b, EVC (show EVC Proteins) and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios.

  10. 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 (show EVC Proteins) in the United Arab Emirates.

Mouse (Murine) Ellis Van Creveld Syndrome 2 (EVC2) interaction partners

  1. data reveal that the Hh pathway involves Evc (show EVC Proteins)/Evc2-dependent modulations that are necessary for normal endochondral bone formation

  2. it is proposed that Hedgehog (show SHH Proteins) activates Smo by inducing its phosphorylation, which recruits Evc (show EVC Proteins)/Evc2 to activate Gli (show GLI1 Proteins) proteins by antagonizing Sufu (show SUFUH Proteins) in the primary cilia

  3. Mutant Evc2 proteins that localize in cilia but are displaced from the EvC (show EVC Proteins) zone are dominant inhibitors of Hh signaling.

  4. We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. Evc2 is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.

  5. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome (show EVC Proteins) mutation, impairs Hedgehog (show SHH Proteins) signal transduction in NIH 3T3 cells in keeping with its dominant effect.

  6. EVC (show EVC Proteins) and LBN protein colocalize at the tip of the primary atrial septum during murine cardiac development.

Cow (Bovine) Ellis Van Creveld Syndrome 2 (EVC2) interaction partners

  1. The presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals.

Ellis Van Creveld Syndrome 2 (EVC2) Protein Profile

Protein Summary

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.

Alternative names and synonyms associated with Ellis Van Creveld Syndrome 2 (EVC2)

  • Ellis van Creveld syndrome 2 (EVC2)
  • Ellis van Creveld syndrome 2 (Evc2)
  • 1110017L09Rik protein
  • EVC2 protein
  • Lbn protein
  • limbin protein

Protein level used designations for EVC2

Ellis van Creveld syndrome 2 , limbin , Ellis van Creveld syndrome 2 (limbin) , limbin-like , ellis-van Creveld syndrome protein 2 , Ellis van Creveld syndrome 2 homolog

GENE ID SPECIES
461676 Pan troglodytes
611156 Canis lupus familiaris
722758 Macaca mulatta
100436741 Pongo abelii
100604511 Nomascus leucogenys
132884 Homo sapiens
68525 Mus musculus
280834 Bos taurus
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