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Aliases for EVC Gene

Aliases for EVC Gene

  • EvC Ciliary Complex Subunit 1 2 3
  • Ellis Van Creveld Protein 2 3 5
  • Ellis Van Creveld Syndrome 2 3
  • DWF-1 3 4
  • 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 (EvC Ciliary Complex Subunit 1) is a Protein Coding gene. Diseases associated with EVC include ellis-van creveld syndrome and weyers acrofacial dysostosis. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog.

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

Promoters for EVC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EVC on UCSC Golden Path with GeneCards custom track

Genomic Location for EVC Gene

Chromosome:
4
Start:
5,711,189 bp from pter
End:
5,829,045 bp from pter
Size:
117,857 bases
Orientation:
Plus strand

Genomic View for EVC Gene

Genes around EVC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EVC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P57679-EVC_HUMAN
    Recommended name:
    Ellis-van Creveld syndrome protein
    Protein Accession:
    P57679

    Protein attributes for EVC Gene

    Size:
    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

No data available for DME Specific Peptides for EVC Gene

Domains & Families for EVC Gene

Protein Domains for EVC Gene

InterPro:
ProtoNet:

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.
genes like me logo Genes that share phenotypes with EVC: view

Human Phenotype Ontology for EVC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EVC Gene

MGI Knock Outs for EVC:

Animal Model Products

  • Taconic Biosciences Mouse Models for EVC

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

COMPARTMENTS
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:0036064 ciliary basal body IEA,ISS --
genes like me logo Genes that share ontologies with EVC: view

Pathways & Interactions for EVC Gene

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

Pathways by source for EVC Gene

Interacting Proteins for EVC Gene

Gene Ontology (GO) - Biological Process for EVC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development TAS 10700184
GO:0045880 positive regulation of smoothened signaling pathway IEA,ISS --
genes like me logo Genes that share ontologies with EVC: view

No data available for SIGNOR curated interactions for EVC Gene

Drugs & Compounds for EVC Gene

No Compound Related Data Available

Transcripts for EVC Gene

Unigene Clusters for EVC Gene

Ellis van Creveld syndrome:
Representative Sequences:

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

No ASD Table

Relevant External Links for EVC Gene

GeneLoc Exon Structure for
EVC
ECgene alternative splicing isoforms for
EVC

Expression for EVC Gene

mRNA expression in normal human tissues for EVC Gene

Protein differential expression in normal tissues from HIPED for EVC Gene

This gene is overexpressed in Liver, secretome (41.2) and Bone (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P57679-EVC_HUMAN
Tissue specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
genes like me logo Genes that share expression patterns with EVC: view

Protein tissue co-expression partners for EVC Gene

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia EVC 36
  • 99 (a)
OneToOne
EVC 35
  • 98.82 (n)
  • 98.59 (a)
cow
(Bos Taurus)
Mammalia EVC 36
  • 80 (a)
OneToOne
EVC 35
  • 84.27 (n)
  • 80.04 (a)
dog
(Canis familiaris)
Mammalia EVC 35
  • 84.41 (n)
  • 81.72 (a)
EVC 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Evc 16
Evc 36
  • 67 (a)
OneToOne
Evc 35
  • 75.83 (n)
  • 68.36 (a)
oppossum
(Monodelphis domestica)
Mammalia EVC 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EVC 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Evc 35
  • 76.73 (n)
  • 68.6 (a)
chicken
(Gallus gallus)
Aves EVC 35
  • 60.04 (n)
  • 50.94 (a)
EVC 36
  • 49 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EVC (if available)
TreeFam:
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
rs2291157 - 5,719,294(-) GGGTC(G/T)GCGCA nc-transcript-variant, reference, missense
rs6414624 - 5,741,785(+) AACTA(C/T)ACCAG nc-transcript-variant, reference, missense
VAR_009944 Acrofacial dysostosis, Weyers type (WAD)
rs183114391 - 5,752,944(+) CCCAC(A/G)GCCTG nc-transcript-variant, reference, missense
rs35953626 Ellis-van Creveld syndrome (EVC) 5,753,797(-) TGCCT(A/C/G/T)GCTGG nc-transcript-variant, reference, missense

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

Variation tolerance for EVC Gene

Residual Variation Intolerance Score: 98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.66; 94.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EVC Gene

HapMap Linkage Disequilibrium report
EVC
Human Gene Mutation Database (HGMD)
EVC

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

Disorders for EVC Gene

MalaCards: The human disease database

(16) MalaCards diseases for EVC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ellis-van creveld syndrome
  • chondroectodermal dysplasia
weyers acrofacial dysostosis
  • weyers acrodental dysostosis
evc-related ellis-van creveld syndrome
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
dysostosis
  • dysostoses
- elite association - COSMIC cancer census association via MalaCards
Search EVC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EVC_HUMAN
  • 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.

Relevant External Links for EVC

Genetic Association Database (GAD)
EVC
Human Genome Epidemiology (HuGE) Navigator
EVC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EVC
genes like me logo Genes that share disorders with EVC: view

No data available for Genatlas for EVC Gene

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 67
  2. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. (PMID: 24582806) Pusapati G.V. … Rohatgi R. (Dev. Cell 2014) 2 3
  3. Common variations in 4p locus are related to male completed suicide. (PMID: 19115052) Must A. … VAoli M. (Neuromolecular Med. 2009) 3 23
  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. 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 23

Products for EVC Gene

Sources for EVC Gene

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