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Aliases for EVC Gene

Aliases for EVC Gene

  • Ellis Van Creveld Protein 2 3
  • Ellis Van Creveld Syndrome 2 3
  • DWF-1 3 4
  • Ellis-Van Creveld Syndrome Protein 3
  • EVC1 3
  • EVCL 3

External Ids for EVC Gene

Previous GeneCards Identifiers for EVC Gene

  • GC04P005587
  • GC04M005935
  • GC04P005705
  • GC04P005777
  • GC04P005830

Summaries for EVC Gene

Entrez Gene Summary for EVC Gene

  • This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for EVC Gene

EVC (Ellis Van Creveld Protein) is a Protein Coding gene. Diseases associated with EVC include weyers acrodental dysostosis and evc-related ellis-van creveld syndrome.

UniProtKB/Swiss-Prot for EVC Gene

  • Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVC Gene

Genomics for EVC Gene

Regulatory Elements for EVC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EVC Gene

5,711,189 bp from pter
5,829,005 bp from pter
117,817 bases
Plus strand

Genomic View for EVC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EVC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EVC Gene

Proteins for EVC Gene

  • Protein details for EVC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ellis-van Creveld syndrome protein
    Protein Accession:
    Secondary Accessions:

    Protein attributes for EVC Gene

    992 amino acids
    Molecular mass:
    111990 Da
    Quaternary structure:
    • Interacts with EVC2.

neXtProt entry for EVC Gene

Proteomics data for EVC Gene at MOPED

Post-translational modifications for EVC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EVC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EVC Gene

Domains for EVC Gene

Protein Domains for EVC Gene


Suggested Antigen Peptide Sequences for EVC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EVC: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EVC Gene

Function for EVC Gene

Molecular function for EVC Gene

UniProtKB/Swiss-Prot Function: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.

Gene Ontology (GO) - Molecular Function for EVC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with EVC: view
genes like me logo Genes that share phenotypes with EVC: view

Animal Model Products

CRISPR Products

miRNA for EVC Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EVC Gene

Localization for EVC Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVC Gene

Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Note=EVC2 is required for the localization of EVC at the base of primary cilia. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for EVC Gene COMPARTMENTS Subcellular localization image for EVC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for EVC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane --
GO:0005929 cilium IDA 21356043
GO:0016021 integral component of membrane IEA --
GO:0036064 ciliary basal body ISS --
genes like me logo Genes that share ontologies with EVC: view

Pathways for EVC Gene

SuperPathways for EVC Gene

No Data Available

Interacting Proteins for EVC Gene

Gene Ontology (GO) - Biological Process for EVC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10700184
GO:0003416 endochondral bone growth ISS --
GO:0007224 smoothened signaling pathway IEA --
GO:0007517 muscle organ development TAS 10700184
GO:0045880 positive regulation of smoothened signaling pathway ISS --
genes like me logo Genes that share ontologies with EVC: view

No data available for Pathways by source for EVC Gene

Transcripts for EVC Gene

Unigene Clusters for EVC Gene

Ellis van Creveld syndrome:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EVC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for EVC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EVC Gene

No ASD Table

Relevant External Links for EVC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EVC Gene

mRNA expression in normal human tissues for EVC Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for EVC Gene

SOURCE GeneReport for Unigene cluster for EVC Gene Hs.646899

mRNA Expression by UniProt/SwissProt for EVC Gene

Tissue specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung
genes like me logo Genes that share expressions with EVC: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EVC Gene

Orthologs for EVC Gene

This gene was present in the common ancestor of chordates.

Orthologs for EVC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EVC 35
  • 98.82 (n)
  • 98.59 (a)
EVC 36
  • 99 (a)
(Bos Taurus)
Mammalia EVC 35
  • 84.27 (n)
  • 80.04 (a)
EVC 36
  • 80 (a)
(Canis familiaris)
Mammalia EVC 35
  • 84.41 (n)
  • 81.72 (a)
EVC 36
  • 82 (a)
(Mus musculus)
Mammalia Evc 35
  • 75.83 (n)
  • 68.36 (a)
Evc 16
Evc 36
  • 67 (a)
(Monodelphis domestica)
Mammalia EVC 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia EVC 36
  • 47 (a)
(Rattus norvegicus)
Mammalia Evc 35
  • 76.73 (n)
  • 68.6 (a)
(Gallus gallus)
Aves EVC 35
  • 60.04 (n)
  • 50.94 (a)
EVC 36
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia evc 35
  • 57.01 (n)
  • 45.08 (a)
Species with no ortholog for EVC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EVC Gene

Gene Tree for EVC (if available)
Gene Tree for EVC (if available)

Paralogs for EVC Gene

No data available for Paralogs for EVC Gene

Variants for EVC Gene

Sequence variations from dbSNP and Humsavar for EVC Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs735171 -- 5,756,852(-) AGGTG(C/T)CCTCT intron-variant
rs735172 -- 5,757,142(-) CTCCT(A/G)GCACA intron-variant
rs746249 -- 5,756,733(-) CTGAC(A/G)TCCCC intron-variant
rs747034 -- 5,756,216(+) AAAAA(A/C)AAAAC intron-variant
rs747035 -- 5,756,416(+) TGTGC(A/G)AGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EVC Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv508993 CNV Insertion 20534489
nsv829844 CNV Gain 17160897
nsv461182 CNV Loss 19166990
nsv520004 CNV Loss 19592680
esv2726976 CNV Deletion 23290073
nsv522904 CNV Loss 19592680
dgv314n21 CNV Loss 19592680
esv21689 CNV Loss 19812545
nsv517345 CNV Loss 19592680
nsv519748 CNV Loss 19592680
esv2726977 CNV Deletion 23290073
esv991561 CNV Deletion 20482838
esv1097941 CNV Deletion 17803354
esv1296377 CNV Insertion 17803354

Relevant External Links for EVC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EVC Gene

Disorders for EVC Gene

(2) OMIM Diseases for EVC Gene (604831)


  • Ellis-van Creveld syndrome (EVC) [MIM:225500]: An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. {ECO:0000269 PubMed:10700184, ECO:0000269 PubMed:18947413, ECO:0000269 PubMed:19744229}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. {ECO:0000269 PubMed:10700184}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for EVC Gene

Disease -log(P) Hits PubMed IDs
ellis-van creveld syndrome 98.1 9
polydactyly, postaxial 93.3 2
dysostosis 83.5 3
short stature 57.8 1
heart defects congenital 40.7 2

Relevant External Links for EVC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EVC: view

Publications for EVC Gene

  1. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (PMID: 10700184) Ruiz-Perez V.L. … Goodship J. (Nat. Genet. 2000) 2 3 4 23
  2. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. (PMID: 18947413) Ulucan H. … Biesecker L.G. (BMC Med. Genet. 2008) 3 4 23
  3. Common variations in 4p locus are related to male completed suicide. (PMID: 19115052) Must A. … VAoli M. (Neuromolecular Med. 2009) 3 23 48
  4. Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. (PMID: 19251731) Sund K.L. … Benson D.W. (Hum. Mol. Genet. 2009) 3 23
  5. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. (PMID: 17024374) Tompson S.W. … Goodship J.A. (Hum. Genet. 2007) 3 23

Products for EVC Gene

Sources for EVC Gene

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