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Aliases for EVC Gene

Aliases for EVC Gene

  • EvC Ciliary Complex Subunit 1 2 3 5
  • Ellis Van Creveld Syndrome 2 3
  • Ellis Van Creveld Protein 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 (EvC Ciliary Complex Subunit 1) is a Protein Coding gene. Diseases associated with EVC include Weyers Acrofacial Dysostosis and Ellis-Van Creveld Syndrome. Among its related pathways are Hedgehog Pathway 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.

Additional gene information for EVC Gene

No data available for CIViC summary , 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

Enhancers for EVC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H005745 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +42.3 42348 15.4 BCOR JUN ZNF175 MAX ZMYM3 SIN3A BATF RELA FOSL1 POLR2A EVC CRMP1 EVC2 PIR43243 GC04P005776
GH04H005365 1 Ensembl ENCODE 11.6 -345.0 -345006 2.3 PKNOX1 ESRRA JUN SIN3A EBF1 CTBP1 GATA3 HSF1 FOSL2 FOS EVC2 EVC ENSG00000252266 GC04M005426 GC04P005298
GH04H005635 1 FANTOM5 ENCODE 11 -73.2 -73227 5.5 TRIM22 JUNB YBX1 ZIC2 ZFHX2 NFIC ZNF366 EGR1 POLR2A GLIS1 EVC2 EVC GC04P005631 GC04P005643
GH04H005725 0.2 dbSUPER 11.8 +14.9 14931 0.9 EVC PIR43243
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EVC on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EVC Gene

Genomic Locations for EVC Gene
117,857 bases
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:
    Recommended name:
    Ellis-van Creveld syndrome protein
    Protein Accession:

    Protein attributes for EVC Gene

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

neXtProt entry for EVC Gene

Post-translational modifications for EVC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EVC Gene

Domains & Families for EVC Gene

Gene Families for EVC Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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 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.

Phenotypes From GWAS Catalog for EVC Gene

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:

Clone Products

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EVC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
nucleus 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EVC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IDA,IEA 21356043
GO:0016020 membrane IEA --
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:0001501 skeletal system development TAS 10700184
GO:0003416 endochondral bone growth ISS,IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007517 muscle organ development TAS 10700184
GO:0019538 protein metabolic process IEA --
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for EVC Gene

Protein tissue co-expression partners for EVC Gene

NURSA nuclear receptor signaling pathways regulating expression of EVC Gene:


SOURCE GeneReport for Unigene cluster for EVC Gene:


mRNA Expression by UniProt/SwissProt for EVC Gene:

Tissue specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

Evidence on tissue expression from TISSUES for EVC Gene

  • Lung(5)
  • Pancreas(5)
  • Heart(4.3)
  • Nervous system(4.3)
  • Adrenal gland(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EVC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • pelvis
  • penis
  • testicle
  • urethra
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
genes like me logo Genes that share expression patterns with EVC: view

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 33 34
  • 98.82 (n)
(Canis familiaris)
Mammalia EVC 33 34
  • 84.41 (n)
(Bos Taurus)
Mammalia EVC 33 34
  • 84.27 (n)
(Rattus norvegicus)
Mammalia Evc 33
  • 76.73 (n)
(Mus musculus)
Mammalia Evc 33 16 34
  • 75.83 (n)
(Monodelphis domestica)
Mammalia EVC 34
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia EVC 34
  • 47 (a)
(Gallus gallus)
Aves EVC 33 34
  • 60.04 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia evc 33
  • 57.01 (n)
Species where no ortholog for EVC was found in the sources mined by GeneCards:
  • 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
rs121908426 Pathogenic, Acrofacial dysostosis, Weyers type (WAD) [MIM:193530] 5,745,321(+) AATAC(C/T)CTGAA intron-variant, nc-transcript-variant, reference, missense
rs35953626 Pathogenic, Ellis-van Creveld syndrome (EVC) [MIM:225500] 5,753,797(-) TGCCT(C/T)GCTGG nc-transcript-variant, reference, missense
VAR_066447 Ellis-van Creveld syndrome (EVC) [MIM:225500]
VAR_066448 Ellis-van Creveld syndrome (EVC) [MIM:225500]
rs1057517875 Pathogenic 5,748,244(+) TGACT(-/CT)GACGG nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv829844 CNV gain 17160897
nsv593492 CNV loss 21841781
nsv593480 CNV loss 21841781
nsv522904 CNV loss 19592680
nsv520004 CNV loss 19592680
nsv519748 CNV loss 19592680
nsv517345 CNV loss 19592680
nsv508993 CNV insertion 20534489
nsv473718 CNV novel sequence insertion 20440878
nsv461182 CNV loss 19166990
nsv1161030 CNV duplication 26073780
nsv1074678 CNV deletion 25765185
nsv1073297 CNV deletion 25765185
nsv1000365 CNV gain 25217958
esv991561 CNV deletion 20482838
esv3893865 CNV loss 25118596
esv3599496 CNV gain 21293372
esv3599495 CNV loss 21293372
esv3569269 CNV loss 25503493
esv3563308 CNV deletion 23714750
esv34196 OTHER inversion 12058347
esv2763336 CNV loss 21179565
esv2760823 CNV loss 21179565
esv2726977 CNV deletion 23290073
esv2726976 CNV deletion 23290073
esv21689 CNV loss 19812545
esv1296377 CNV insertion 17803354
esv1097941 CNV deletion 17803354
dgv8932n54 CNV loss 21841781
dgv314n21 CNV loss 19592680

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for EVC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
weyers acrofacial dysostosis
  • acrofacial dysostosis of weyers
ellis-van creveld syndrome
  • chondroectodermal dysplasia
evc-related ellis-van creveld syndrome
  • dysostoses
acrofacial dysostosis
- elite association - COSMIC cancer census association via MalaCards
Search EVC 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. {ECO:0000269 PubMed:10700184}. 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:10700184, ECO:0000269 PubMed:18947413, ECO:0000269 PubMed:19744229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EVC

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 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 VL … Goodship J (Nature genetics 2000) 2 3 4 22 60
  2. Common variations in 4p locus are related to male completed suicide. (PMID: 19115052) Must A … Väli M (Neuromolecular medicine 2009) 3 22 45 60
  3. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. (PMID: 18947413) Ulucan H … Biesecker LG (BMC medical genetics 2008) 3 4 22 60
  4. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. (PMID: 24582806) Pusapati GV … Rohatgi R (Developmental cell 2014) 2 3 60
  5. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 45 60

Products for EVC Gene

Sources for EVC Gene

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