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EVC2 Gene

protein-coding   GIFtS: 52
GCID: GC04M005609

Ellis Van Creveld Syndrome 2

  See EVC2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ellis Van Creveld Syndrome 21 2
LBN2 3 5
Ellis-Van Creveld Syndrome Protein 22 3
limbin2

External Ids:    HGNC: 197471   Entrez Gene: 1328842   Ensembl: ENSG000001730407   OMIM: 6072615   UniProtKB: Q86UK53   

Export aliases for EVC2 gene to outside databases

Previous GC identifers: GC04M005537 GC04M005628 GC04M005662


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 evc2-related ellis-van creveld syndrome, and ellis-van creveld syndrome.

UniProtKB/Swiss-Prot: LBN_HUMAN, Q86UK5
Function: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone
formation and skeletal development




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EVC2 gene promoter:
         Elk-1   GATA-3   MIF-1   AP-4   Nkx5-1   GATA-2   GATA-1   Egr-4   Evi-1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEVC2 promoter sequence
   Search Chromatin IP Primers for EVC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EVC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.2-p16.1   Ensembl cytogenetic band:  4p16.2   HGNC cytogenetic band: 4p16.2-p16.1

EVC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EVC2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M005609:  view genomic region     (about GC identifiers)

Start:
5,544,499 bp from pter      End:
5,711,275 bp from pter
Size:
166,777 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LBN_HUMAN, Q86UK5 (See protein sequence)
Recommended Name: Limbin precursor  
Size: 1308 amino acids; 147948 Da
Subunit: Interacts with EVC (By similarity)
Sequence caution: Sequence=AAN86577.1; Type=Erroneous initiation; Sequence=AAN86578.1; Type=Erroneous initiation;
Secondary accessions: Q86YT3 Q86YT4 Q8NG49
Alternative splicing: 3 isoforms:  Q86UK5-1   Q86UK5-2   Q86UK5-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for EVC2: NX_Q86UK5

Explore proteomics data for EVC2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn220

  • See EVC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159608.1  NP_667338.3  

    ENSEMBL proteins: 
     ENSP00000431981   ENSP00000342144   ENSP00000311683   ENSP00000423876   ENSP00000339954  

    EVC2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EVC2

     
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    antibodies-online proteins for EVC2 (3 products) 

     
    antibodies-online peptides for EVC2

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    antibodies-online antibodies for EVC2 (27 products) 

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    Cloud-Clone Corp. CLIAs for EVC2
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026501 Limbin/Ellis-van_Creveld
     IPR022076 Limbin

    Graphical View of Domain Structure for InterPro Entry Q86UK5

    ProtoNet protein and cluster: Q86UK5


    Find genes that share domains with EVC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LBN_HUMAN, Q86UK5
    Function: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone
    formation and skeletal development

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with EVC2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for EVC2:
     Decreased influenza A virus in  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Evc2):
     cellular  craniofacial  limbs/digits/tail  mortality/aging  skeleton 

    Find genes that share phenotypes with EVC2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Evc2tm1.1Vlrp for EVC2

       genOway: Develop your customized and physiologically relevant rodent model for EVC2

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate EVC2:
    hsa-miR-411* hsa-miR-495 hsa-miR-875-3p hsa-miR-379* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-194
    SwitchGear 3'UTR luciferase reporter plasmidEVC2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LBN_HUMAN, Q86UK5: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasm, cytoskeleton,
    cilium basal body (By similarity). Cell projection, cilium (By similarity). Cell projection, cilium membrane (By
    similarity). Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    cytoskeleton2
    endoplasmic reticulum2
    cytosol1
    extracellular1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005929cilium ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with EVC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EVC2
    Interactions:

        GeneGlobe Interaction Network for EVC2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for EVC2 (Q86UK52, 3 ENSP000003421444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62108 I2D: score=3 
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway ISS--

    Find genes that share ontologies with EVC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EVC2 (LBN)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EVC2 gene (2 alternative transcripts): 
    NM_001166136.1  NM_147127.4  

    Unigene Cluster for EVC2:

    Ellis van Creveld syndrome 2
    Hs.87306  [show with all ESTs]
    Unigene Representative Sequence: NM_001166136
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475313 ENST00000344408(uc003gij.3) ENST00000310917(uc003gik.3 uc011bwb.2)
    ENST00000509670 ENST00000344938
    miRNA
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    Block miRNA regulation of human, mouse, rat EVC2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate EVC2:
    hsa-miR-411* hsa-miR-495 hsa-miR-875-3p hsa-miR-379* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-194
    SwitchGear 3'UTR luciferase reporter plasmidEVC2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EVC2
    Predesigned siRNA for gene silencing in human, mouse, rat EVC2
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    GenScript: all cDNA clones in your preferred vector (see all 2): EVC2 (NM_147127)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EVC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EVC2
    Addgene plasmids for EVC2 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EVC2
      QuantiTect SYBR Green Assays in human, mouse, rat EVC2
      QuantiFast Probe-based Assays in human, mouse, rat EVC2

    Additional mRNA sequence: 

    AB083067.1 AY152402.1 AY152403.1 AY185210.1 BC143836.1 

    3 DOTS entries:

    DT.109268  DT.100747362  DT.100657173 

    Selected AceView cDNA sequences (see all 31):

    AB083067 BX106942 AY185210 BM681607 BM724708 BM727135 AA993581 AY152403 
    AA465650 AI018305 BU741368 AA234305 BG680728 AW137166 AI783662 CD516232 
    BP352125 BM760765 AW515646 AA810981 AY152402 BP353351 NM_147127 AI420484 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EVC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTCCAGA
    EVC2 Expression
    About this image


    EVC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Zeugopod Long Bone
     
     Ovary (Reproductive System)
    EVC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EVC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.87306

    UniProtKB/Swiss-Prot: LBN_HUMAN, Q86UK5
    Tissue specificity: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EVC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EVC2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Evc21 , 5 Ellis van Creveld syndrome 2 homolog (human)5
    Ellis van Creveld syndrome 21
    76.67(n)1
    72.56(a)1
      5 (20.15 cM)5
    685251  NM_145920.31  NP_666032.11 
     373384995 
    chicken
    (Gallus gallus)
    Aves EVC21 Ellis van Creveld syndrome 2 57.64(n)
    48.47(a)
      770095  NM_001079749.1  NP_001073217.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia evc21 Ellis van Creveld syndrome 2 52.58(n)
    38.27(a)
      100495651  XM_002939054.2  XP_002939100.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EVC2 (see all 4034)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359344
    A colorectal cancer sample4--see VAR_0359342 L V mis40--------
    VAR_0172094
    Ellis-van Creveld syndrome (EVC)4--see VAR_0172092 I R mis40--------
    VAR_0359334
    A colorectal cancer sample4--see VAR_0359332 A S mis40--------
    VAR_0172114
    Ellis-van Creveld syndrome (EVC)4--see VAR_0172112 R W mis40--------
    rs1378529271,2
    Cpathogenic15513773(-) AACATC/TAGCAG 4 Q * stg11Minor allele frequency- T:0.00NA 4552
    rs1378529281,2
    Cpathogenic15522382(-) TGCTGC/TGGGAG 4 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1378529251,2
    Cpathogenic15566136(-) CAGCCC/TAGCTG 4 Q * stg10--------
    rs1378529241,2
    Cpathogenic15578340(-) CTTGTC/TGAACA 4 R * stg10--------
    rs1482526471,2
    --5499476(+) ATTGTA/GTTATT 2 -- ds50010--------
    rs1142488581,2
    C,F--5499487(+) TGCCCG/AGCTGA 2 -- ds50011Minor allele frequency- A:0.23NA 120

    HapMap Linkage Disequilibrium report for EVC2 (5544499 - 5711275 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for EVC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422511CNV Deletion17116639
    esv1000819CNV Deletion20482838
    nsv508993CNV Insertion20534489
    nsv4207CNV Insertion18451855
    nsv523706CNV Loss19592680
    esv29396CNV Loss19812545
    nsv878518CNV Gain21882294
    esv34196OTHER Inversion12058347

    Human Gene Mutation Database (HGMD): EVC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EVC2
    DNA2.0 Custom Variant and Variant Library Synthesis for EVC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607261   
    OMIM disorders: 225500  
    UniProtKB/Swiss-Prot: LBN_HUMAN, Q86UK5
  • 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. 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 7 diseases for EVC2:    
    About MalaCards
    evc2-related ellis-van creveld syndrome    ellis-van creveld syndrome    weyers acrofacial dysostosis    orofaciodigital syndrome
    dysostosis    clouston syndrome    sensenbrenner syndrome

    6 diseases from the University of Copenhagen DISEASES database for EVC2:
    Ellis-Van Creveld syndrome     Polydactyly     Orofaciodigital syndrome     Dysostosis
    Sensenbrenner syndrome     Clouston syndrome

    Find genes that share disorders with EVC2           About GenesLikeMe

    4 Novoseek inferred disease relationships for EVC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ellis-van creveld syndrome 98.2 5 17024374 (2), 17392984 (1), 12468274 (1), 15884406 (1)
    polydactyly, postaxial 91.7 1 17392984 (1)
    ectodermal dysplasia 79.1 1 17392984 (1)
    heart defects congenital 54.8 1 17392984 (1)

    Genetic Association Database (GAD): EVC2
    Human Genome Epidemiology (HuGE) Navigator: EVC2 (1 document)

    Export disorders for EVC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EVC2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with EVC2)
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    1. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (PubMed id 12571802)1, 2, 3 Ruiz-Perez V.L.... Goodship J.A. (Am. J. Hum. Genet. 2003)
    2. Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. (PubMed id 12136126)1, 2, 3 Takeda H.... Kunieda T. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (PubMed id 16404586)1, 2, 9 Ye X.... Bian Z. (Hum. Genet. 2006)
    4. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. (PubMed id 12468274)1, 2, 9 Galdzicka M.... Ginns E.I. (Mol. Genet. Metab. 2002)
    5. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. (PubMed id 20087401)1, 4 Ingersoll R.G....Beaty T.H. (Eur. J. Hum. Genet. 2010)
    6. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. (PubMed id 20184732)1, 9 Ali B.R....Al-Gazali L. (BMC Med. Genet. 2010)
    7. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. (PubMed id 17024374)1, 9 Tompson S.W....Goodship J.A. (Hum. Genet. 2007)
    8. Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. (PubMed id 19251731)1, 9 Sund K.L....Benson D.W. (Hum. Mol. Genet. 2009)
    9. Ellis-van Creveld syndrome. (PubMed id 17547743)1, 9 Baujat G. and Le Merrer M. (Orphanet J Rare Dis 2007)
    10. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. (PubMed id 23169490)1 Shaheen R....Alkuraya F.S. (Eur. J. Hum. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 132884 HGNC: 19747 AceView: EVC2 Ensembl:ENSG00000173040 euGenes: HUgn132884
    ECgene: EVC2 H-InvDB: EVC2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EVC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EVC2 gene:
    Search GeneIP for patents involving EVC2

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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