help  | about  | cite  | software

Gene : EVC2 Homo sapiens

Name  ? EvC ciliary complex subunit 2 Cytological Location  4p16.2
Brief Description  EvC ciliary complex subunit 2
Description  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. [provided by RefSeq, Oct 2009]
  • synonyms:
  • LBN,
  • OTTHUMG00000125493,
  • HGNC:19747,
  • AB083067,
  • limbin,
  • Ellis van Creveld syndrome 2,
  • WAD,
  • uc003gij.4,
  • EVC2,
  • NM_147127,
  • LBN
  • identifiers:
  • 132884,
  • ENSG00000173040,
  • EVC2

Genome feature

Region: gene ? Length: 147141  
Location: 4:5562408-5709548 reverse strand Cyto location: 4p16.2


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

350 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results