Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2121
MIM: 604831
HGNC: 3497
Ensembl: ENSG00000072840
Variants:
dbSNP: 2121
ClinVar: 2121
TCGA: ENSG00000072840
COSMIC: EVC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000072840 | ENST00000264956 | P57679 |
| ENSG00000072840 | ENST00000509451 | E9PCN4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34037314 | 2021 | An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation. | 1 |
| 34037314 | 2021 | An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation. | 1 |
| 29257216 | 2018 | Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect. | 2 |
| 29257216 | 2018 | Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect. | 2 |
| 29229899 | 2017 | Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. | 4 |
| 29321360 | 2017 | Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. | 7 |
| 29229899 | 2017 | Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. | 4 |
| 29321360 | 2017 | Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. | 7 |
| 26580685 | 2016 | Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. | 3 |
| 26621368 | 2016 | Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. | 1 |
| 26748586 | 2016 | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. | 5 |
| 26580685 | 2016 | Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. | 3 |
| 26621368 | 2016 | Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. | 1 |
| 26748586 | 2016 | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. | 5 |
| 24996003 | 2014 | Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia. | 7 |
Citation
Dessen P
EVC (EvC ciliary complex subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62934/meetings/
