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: 132884
MIM: 607261
HGNC: 19747
Ensembl: ENSG00000173040
Variants:
dbSNP: 132884
ClinVar: 132884
TCGA: ENSG00000173040
COSMIC: EVC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000173040 | ENST00000310917 | Q86UK5 |
| ENSG00000173040 | ENST00000344408 | Q86UK5 |
| ENSG00000173040 | ENST00000475313 | A0A0C4DGE7 |
| ENSG00000173040 | ENST00000509670 | E9PFT2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37107645 | 2023 | Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome. | 1 |
| 37107645 | 2023 | Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome. | 1 |
| 36672825 | 2022 | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | 2 |
| 36672825 | 2022 | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | 2 |
| 33731941 | 2021 | Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. | 21 |
| 33731941 | 2021 | Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. | 21 |
| 29845660 | 2019 | Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. | 1 |
| 30417976 | 2019 | Novel mutations identified in patients with tooth agenesis by whole-exome sequencing. | 7 |
| 29845660 | 2019 | Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. | 1 |
| 30417976 | 2019 | Novel mutations identified in patients with tooth agenesis by whole-exome sequencing. | 7 |
| 29321360 | 2017 | Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. | 7 |
| 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 |
Citation
Dessen P
EVC2 (EvC ciliary complex subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62935/evc2-(evc-ciliary-complex-subunit-2)
