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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 Ellis-Van Creveld Syndrome and Weyers Acrofacial Dysostosis. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.

UniProtKB/Swiss-Prot for EVC Gene

  • Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in 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

GeneHancer (GH) Regulatory Elements for EVC Gene

Promoters and enhancers for EVC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I005707 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 565 -0.7 -707 6 FOXA2 ARNT ARID4B SIN3A BATF ZNF48 ZBTB40 ZNF335 GLIS2 SCRT2 EVC EVC2 PIR37444 RN7SKP275 GC04P005689
GH04I005745 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +42.3 42348 15.4 SIN3A BATF FOS RUNX3 USF2 JUNB SP1 GLIS1 NR2C1 MYC EVC CRMP1 EVC2 PIR43243 GC04P005776
GH04I005365 Enhancer 0.9 Ensembl ENCODE 11.6 -345.0 -345006 2.3 NCOA3 PKNOX1 ESRRA CLOCK JUN NEUROD1 SIN3A EBF1 CTBP1 GATA3 EVC2 EVC ENSG00000252266 GC04M005426 GC04P005298 STK32B
GH04I005635 Enhancer 0.9 FANTOM5 ENCODE 11 -73.2 -73226 5.5 JUNB TRIM22 YBX1 ZIC2 ZFHX2 NFIC ZNF366 EGR1 POLR2A GLIS1 EVC EVC2 GC04P005631 GC04P005643
GH04I005729 Enhancer 0.4 dbSUPER 9.6 +19.8 19796 3.6 MITF ZFP36 EVC2 EVC PIR43243
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EVC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EVC gene promoter:

Genomic Locations for EVC Gene

Genomic Locations for EVC Gene
chr4:5,711,189-5,829,045
(GRCh38/hg38)
Size:
117,857 bases
Orientation:
Plus strand
chr4:5,712,924-5,830,772
(GRCh37/hg19)

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:
    • Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts with EVC2. Interacts with EFCAB7. Interacts with IQCE.

neXtProt entry for EVC Gene

Post-translational modifications for EVC Gene

No Post-translational modifications

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:
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in 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:

miRNA for EVC Gene

miRTarBase miRNAs that target 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. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250 UniProtKB:P57680}.

Subcellular locations from

COMPARTMENTS
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
EVC
ECgene alternative splicing isoforms for
EVC

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:

EVC

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.

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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia EVC 33 34
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia EVC 33 34
  • 84.41 (n)
cow
(Bos Taurus)
Mammalia EVC 33 34
  • 84.27 (n)
rat
(Rattus norvegicus)
Mammalia Evc 33
  • 76.73 (n)
mouse
(Mus musculus)
Mammalia Evc 33 16 34
  • 75.83 (n)
oppossum
(Monodelphis domestica)
Mammalia EVC 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EVC 34
  • 47 (a)
OneToOne
chicken
(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

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 Variation AA Info Type
rs1017946059 likely-pathogenic, Chondroectodermal dysplasia, Creveld syndrome (EVC) [MIM:225500] 5,731,657(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1031919 benign, not specified, Curry-Hall syndrome, Ellis-van Creveld Syndrome 5,801,942(+) T/C genic_downstream_transcript_variant, intron_variant
rs1033294908 uncertain-significance, Curry-Hall syndrome, Ellis-van Creveld Syndrome 5,812,605(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1041749976 uncertain-significance, Curry-Hall syndrome, Ellis-van Creveld Syndrome 5,812,721(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs111293777 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Curry-Hall syndrome, Ellis-van Creveld Syndrome 5,793,686(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for EVC Gene

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

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

Disorders for EVC Gene

MalaCards: The human disease database

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

- 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
  • 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.

Additional Disease Information for EVC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  2. Common variations in 4p locus are related to male completed suicide. (PMID: 19115052) Must A … Väli M (Neuromolecular medicine 2009) 3 22 44 58
  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 58
  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 58
  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 44 58

Products for EVC Gene

Sources for EVC Gene

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