EVC2 (EvC ciliary complex subunit 2)

2014-11-01  

Identity

HGNC
LOCATION
4p16.2
LOCUSID
ALIAS
LBN,WAD
FUSION GENES

Other Information

Locus ID:

NCBI: 132884
MIM: 607261
HGNC: 19747
Ensembl: ENSG00000173040

Variants:

dbSNP: 132884
ClinVar: 132884
TCGA: ENSG00000173040
COSMIC: EVC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173040ENST00000310917Q86UK5
ENSG00000173040ENST00000344408Q86UK5
ENSG00000173040ENST00000475313A0A0C4DGE7
ENSG00000173040ENST00000509670E9PFT2

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'on' stateREACTOMER-HSA-5632684
Activation of SMOREACTOMER-HSA-5635838

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
125718022003Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.56
124682742002A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.35
231694902013Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.25
232205432013Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.20
198101192009Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.18
215337792011Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.18
164045862006A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.14
184544482008Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.13
192517312009Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.11
200874012010Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.10

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