Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EVC contributors: npt/mct/pgu - updated : 24-09-2015
HGNC name Ellis van Creveld syndrome
HGNC id 3497
Corresponding disease
EVC Ellis-van Creveld syndrome
WAD Weyers acrofacial dysostosis
Location 4p16.1      Physical location : 5.712.923 - 5.816.031
Synonym symbol(s) DWF-1, EVCL, MGC105107
DNA
TYPE functioning gene
STRUCTURE 117.94 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D4S2375 - D4S527 - D4S842 - D4S543 - D4S843 - EVC EVC ,D4S562 ,CRMP1 - D4S1059 - D4S827 - cen
Authors Ruiz-Perez (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 6430 112 992 - PMID: 8661097
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivepharynx   highly
Nervousspinal cord    
Reproductivefemale systembreastmammary gland highly
Respiratorylung   highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumskeletal  
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • developing heart, kidney, lung, fetal eye
  • expressed in the developing bones and the orofacial region
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal transmembrane domains
  • regions of coiled-coil structure
  • a leucine zipper motif
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localize to the basal bodies of primary cilia
  • basic FUNCTION
  • involved in bone development and maintenance
  • intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes
  • with EVC2, having function coordinately in cardiac development and loss of this coordinate function results in the characteristics of EVC syndrome
  • endogenous EVC and EVC2 are mutually required for their translocation to cilia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal muscle
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EVC and EVC2 are mutually required for maintaining their protein levels and localization
  • EVC/EVC2 complex interacts with SMO and is required for signal transduction events
  • EFCAB7 is a possible modifier gene in EVC and EVC2 and its related disorders
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EVC , WAD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    could represent new targets for anti-tumoral therapy
    ANIMAL & CELL MODELS
    growth plate of Evc(-/-) mice shows delayed bone collar formation and advanced maturation of chondrocytes