EVC2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EVC2 (HGNC:19747) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
EvC ciliary complex subunit 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
LBN
%HI
74.81(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.09(Read more about gnomAD LOEUF score)
Cytoband
4p16.2
Genomic Coordinates
GRCh37/hg19: chr4:5564166-5711275 NCBI Ensembl UCSC
GRCh38/hg38: chr4:5529011-5709548 NCBI Ensembl UCSC
MANE Select Transcript
NM_147127.5 ENST00000344408.10 (Read more about MANE Select)
Function
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29745
ClinGen Curation ID:
CCID:007092
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/18/2013

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous or compound heterozygous mutations in EVC2 are a cause of Ellis-van Creveld syndrome (OMIM 225500), an autosomal recessive condition. Mutations include deletions, nonsense, frameshift, and other loss-of-function mutations and heterozygous carriers of these mutations are normal. Four individuals with Weyers acrofacial dysostosis have been reported to date with heterozygous truncating mutations in exon 22 of EVC2. These mutations result in truncated proteins that are not subject to nonsense-mediated decay. A dominant-negative effect is the likely mechanism of disease. See D'Asdio et al (2013, PMID: 23220543) for review of patients and discussion of mechanism.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)