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Aliases for EVC2 Gene

Aliases for EVC2 Gene

  • Ellis Van Creveld Syndrome 2 2 3
  • Ellis-Van Creveld Syndrome Protein 2 3 4
  • LBN 3 4
  • WAD 3

External Ids for EVC2 Gene

Previous GeneCards Identifiers for EVC2 Gene

  • GC04M005537
  • GC04M005628
  • GC04M005662

Summaries for EVC2 Gene

Entrez Gene Summary for EVC2 Gene

  • 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]

GeneCards Summary for EVC2 Gene

EVC2 (Ellis Van Creveld Syndrome 2) is a Protein Coding gene. Diseases associated with EVC2 include ellis-van creveld syndrome and evc2-related ellis-van creveld syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog.

UniProtKB/Swiss-Prot for EVC2 Gene

  • Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVC2 Gene

Genomics for EVC2 Gene

Regulatory Elements for EVC2 Gene

Epigenetics Products

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

Genomic Location for EVC2 Gene

5,534,397 bp from pter
5,709,548 bp from pter
175,152 bases
Minus strand

Genomic View for EVC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EVC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EVC2 Gene

Proteins for EVC2 Gene

  • Protein details for EVC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q86YT3
    • Q86YT4
    • Q8NG49

    Protein attributes for EVC2 Gene

    1308 amino acids
    Molecular mass:
    147948 Da
    Quaternary structure:
    • Interacts with EVC.
    • Sequence=AAN86577.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAN86578.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EVC2 Gene


neXtProt entry for EVC2 Gene

Proteomics data for EVC2 Gene at MOPED

Post-translational modifications for EVC2 Gene

  • Glycosylation at Asn 220
  • Modification sites at PhosphoSitePlus

Other Protein References for EVC2 Gene

Antibody Products

No data available for DME Specific Peptides for EVC2 Gene

Domains & Families for EVC2 Gene

Protein Domains for EVC2 Gene


Suggested Antigen Peptide Sequences for EVC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EVC2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EVC2 Gene

Function for EVC2 Gene

Molecular function for EVC2 Gene

UniProtKB/Swiss-Prot Function:
Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.

Gene Ontology (GO) - Molecular Function for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with EVC2: view
genes like me logo Genes that share phenotypes with EVC2: view

Animal Models for EVC2 Gene

MGI Knock Outs for EVC2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EVC2 Gene

Localization for EVC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVC2 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.

Subcellular locations from

Jensen Localization Image for EVC2 Gene COMPARTMENTS Subcellular localization image for EVC2 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EVC2: view

Pathways & Interactions for EVC2 Gene

genes like me logo Genes that share pathways with EVC2: view

Pathways by source for EVC2 Gene

Interacting Proteins for EVC2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q86UK5-LBN_HUMAN ENSP00000342144 for EVC2 Gene via MINT I2D STRING

Gene Ontology (GO) - Biological Process for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS --
genes like me logo Genes that share ontologies with EVC2: view

No data available for SIGNOR curated interactions for EVC2 Gene

Drugs & Compounds for EVC2 Gene

No Compound Related Data Available

Transcripts for EVC2 Gene

Unigene Clusters for EVC2 Gene

Ellis van Creveld syndrome 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EVC2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EVC2 Gene

No ASD Table

Relevant External Links for EVC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EVC2 Gene

mRNA expression in normal human tissues for EVC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EVC2 Gene

This gene is overexpressed in Liver (60.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EVC2 Gene

SOURCE GeneReport for Unigene cluster for EVC2 Gene Hs.87306

mRNA Expression by UniProt/SwissProt for EVC2 Gene

Tissue specificity: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with EVC2: view

Protein tissue co-expression partners for EVC2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EVC2 Gene

Orthologs for EVC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EVC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EVC2 35
  • 83.97 (n)
  • 80.18 (a)
EVC2 36
  • 79 (a)
(Canis familiaris)
Mammalia EVC2 35
  • 83.05 (n)
  • 78.95 (a)
EVC2 36
  • 75 (a)
(Mus musculus)
Mammalia Evc2 35
  • 76.67 (n)
  • 72.56 (a)
Evc2 16
Evc2 36
  • 71 (a)
(Pan troglodytes)
Mammalia EVC2 35
  • 98.67 (n)
  • 98.32 (a)
EVC2 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Evc2 35
  • 77.55 (n)
  • 73.51 (a)
(Monodelphis domestica)
Mammalia EVC2 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 57 (a)
-- 36
  • 52 (a)
(Gallus gallus)
Aves EVC2 35
  • 57.64 (n)
  • 48.47 (a)
EVC2 36
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia evc2 35
  • 52.58 (n)
  • 38.27 (a)
Species with no ortholog for EVC2:
  • 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 EVC2 Gene

Gene Tree for EVC2 (if available)
Gene Tree for EVC2 (if available)

Paralogs for EVC2 Gene

No data available for Paralogs for EVC2 Gene

Variants for EVC2 Gene

Sequence variations from dbSNP and Humsavar for EVC2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_017209 Ellis-van Creveld syndrome (EVC)
VAR_017210 -
VAR_017211 Ellis-van Creveld syndrome (EVC)
VAR_035933 A colorectal cancer sample
VAR_035934 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for EVC2 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv878518 CNV Gain 21882294
nsv4207 CNV Insertion 18451855
esv2422511 CNV Deletion 17116639
esv29396 CNV Loss 19812545
esv1000819 CNV Deletion 20482838
nsv523706 CNV Loss 19592680
nsv508993 CNV Insertion 20534489

Variation tolerance for EVC2 Gene

Residual Variation Intolerance Score: 96.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.17; 90.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EVC2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EVC2 Gene

Disorders for EVC2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EVC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
ellis-van creveld syndrome
  • chondroectodermal dysplasia
evc2-related ellis-van creveld syndrome
weyers acrofacial dysostosis
  • weyers acrodental dysostosis
atrioventricular septal defect
  • ecd
hydrolethalus syndrome
  • salonen-herva-norio syndrome
- elite association
Search EVC2 in MalaCards View complete list of genes associated with diseases


  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:12468274, ECO:0000269 PubMed:12571802}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EVC2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EVC2: view

No data available for Genatlas for EVC2 Gene

Publications for EVC2 Gene

  1. 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 67
  2. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. (PMID: 20184732) Ali B.R. … Al-Gazali L. (BMC Med. Genet. 2010) 23 67
  3. A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. (PMID: 19744229) Kalsoom U.-E. … Ahmad W. (Pediatr. Int. 2010) 23 67
  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) 23 67
  5. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. (PMID: 19876929) Ruiz-Perez V.L. … Goodship J.A. (Am J Med Genet C Semin Med Genet 2009) 23 67

Products for EVC2 Gene

Sources for EVC2 Gene

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