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ARVCF Gene

protein-coding   GIFtS: 55
GCID: GC22M019957

Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome

  See ARVCF-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
Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome1 2
Armadillo Repeat Protein Deleted In Velo-Cardio-Facial Syndrome2

External Ids:    HGNC: 7281   Entrez Gene: 4212   Ensembl: ENSG000000998897   OMIM: 6022695   UniProtKB: O001923   

Export aliases for ARVCF gene to outside databases

Previous GC identifers: GC22M016897 GC22M018331 GC22M003577


(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 ARVCF Gene:
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This
family plays an important role in the formation of adherens junction complexes, which are thought to facilitate
communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search
for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively
common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial
dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and
a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein
interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted
nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. (provided by RefSeq, Jun
2010)

GeneCards Summary for ARVCF Gene:
ARVCF (armadillo repeat gene deleted in velocardiofacial syndrome) is a protein-coding gene. Diseases associated with ARVCF include spinocerebellar ataxia type 10, and digeorge syndrome. An important paralog of this gene is PKP1.

UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192
Function: Involved in protein-protein interactions at adherens junctions

Gene Wiki entry for ARVCF Gene


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the ARVCF gene promoter:
         HTF   RelA   LCR-F1   NF-kappaB   HEN1   NF-kappaB2   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARVCF promoter sequence
   Search Chromatin IP Primers for ARVCF

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


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019957:  view genomic region     (about GC identifiers)

Start:
19,957,402 bp from pter      End:
20,004,331 bp from pter
Size:
46,930 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192 (See protein sequence)
Recommended Name: Armadillo repeat protein deleted in velo-cardio-facial syndrome  
Size: 962 amino acids; 104642 Da
Subunit: Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain)
Secondary accessions: B7WNV2
Alternative splicing: 2 isoforms:  O00192-1   O00192-2   

Explore the universe of human proteins at neXtProt for ARVCF: NX_O00192

Explore proteomics data for ARVCF at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001661.1  
    ENSEMBL proteins: 
     ENSP00000263207   ENSP00000384341   ENSP00000384732   ENSP00000385444   ENSP00000342042  

    ARVCF Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ARVCF

     
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    Search eBioscience for ELISAs for ARVCF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR028444 ARVCF
     IPR028435 Plakophilin/d_Catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O00192

    ProtoNet protein and cluster: O00192

    1 Blocks protein domain: IPB000225 Armadillo repeat

    UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 10 ARM repeats


    Find genes that share domains with ARVCF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: ARVC_HUMAN, O00192
    Function: Involved in protein-protein interactions at adherens junctions

         Genatlas biochemistry entry for ARVCF:
    Drosophila armadillo repeat gene homolog,catenin family,ubiquitously expressed,involved in protein-protein
    interaction at adherens juctions,deleted in the velocardiofacial syndrome

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI19706687
         
    Find genes that share ontologies with ARVCF           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arvcf):
     behavior/neurological  no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with ARVCF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Arvcftm1Ais for ARVCF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARVCF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARVCF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARVCF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARVCF

    miRNA
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    miRTarBase miRNAs that target ARVCF:
    hsa-mir-18a-5p (MIRT050721)

    Block miRNA regulation of human, mouse, rat ARVCF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARVCF (see all 15):
    hsa-miR-4283 hsa-miR-600 hsa-miR-520d-5p hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidARVCF 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARVCF
    Predesigned siRNA for gene silencing in human, mouse, rat ARVCF

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ARVCF

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    OriGene ORF clones in mouse, rat for ARVCF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARVCF (NM_001670)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARVCF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARVCF

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ARVCF 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARVCF


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular TAS9126485
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with ARVCF           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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        Pathway & Disease-focused RT2 Profiler PCR Array including ARVCF: 
              Adherens Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ARVCF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for ARVCF (O001923 ENSP000002632074) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDH15P552913, ENSP000002897464I2D: score=4 STRING: ENSP00000289746
    CDH2P190223, ENSP000002691414I2D: score=3 STRING: ENSP00000269141
    ERBB2IPQ96RT13, ENSP000003703304I2D: score=3 STRING: ENSP00000370330
    TJP1Q071573, ENSP000002815374I2D: score=1 STRING: ENSP00000281537
    CDH1P128303, ENSP000002617694I2D: score=2 STRING: ENSP00000261769
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS9126485
    GO:0007275multicellular organismal development IEA--
    GO:0016339calcium-dependent cell-cell adhesion IEA--

    Find genes that share ontologies with ARVCF           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 ARVCF (ARVC)

    1 PharmGKB related drug/compound annotation for ARVCF gene    About this table
    Drug/compound PharmGKB Annotation
    bupropionCA  



    Find genes that share compounds with ARVCF           About GenesLikeMe



    (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 ARVCF gene: 
    NM_001670.2  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263207(uc002zqz.3) ENST00000495096(uc002zqy.3) ENST00000401994
    ENST00000406522 ENST00000406259 ENST00000480792 ENST00000473551 ENST00000487793
    ENST00000492625 ENST00000462319 ENST00000467828 ENST00000344269
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ARVCF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARVCF (see all 15):
    hsa-miR-4283 hsa-miR-600 hsa-miR-520d-5p hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidARVCF 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ARVCF
    Predesigned siRNA for gene silencing in human, mouse, rat ARVCF
    Clone
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    OriGene clones in human, mouse for ARVCF (see all 6)
    OriGene ORF clones in mouse, rat for ARVCF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARVCF (NM_001670)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARVCF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARVCF
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ARVCF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARVCF
      QuantiTect SYBR Green Assays in human, mouse, rat ARVCF
      QuantiFast Probe-based Assays in human, mouse, rat ARVCF

    Selected AceView cDNA sequences (see all 123):

    BU543609 BF513398 CR590273 CA843052 CR623754 BU074493 U51269 AL044705 
    BU542504 BE872926 CA487755 BQ882055 CD673621 BQ898396 BQ709901 CD674705 
    AI985156 AI124083 NM_001670 CA843805 BE045548 AI858961 BX328615 BU074778 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARVCF (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a ·
    SP1:                                                                                                                                      -                     
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:              -     -     -                                                                                                                                 
    SP5:                    -     -                                                                                                                                 

    ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for ARVCF

    (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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    ARVCF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARVCF Expression
    About this image


    ARVCF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             Septum   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Eye (Sensory Organs)
    ARVCF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARVCF Protein Expression

    UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192
    Tissue specificity: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level
    in lung

        Pathway & Disease-focused RT2 Profiler PCR Array including ARVCF: 
              Adherens Junctions in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ARVCF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARVCF
    QuantiTect SYBR Green Assays in human, mouse, rat ARVCF
    QuantiFast Probe-based Assays in human, mouse, rat ARVCF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARVCF

    (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 animals.

    Orthologs for ARVCF gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arvcf1 , 5 armadillo repeat gene deleted in velo-cardio-facial more1, 5 85.69(n)1
    91.77(a)1
      16 (11.37 cM)5
    118771  NM_001272028.11  NP_001258957.11 
     183481825 
    chicken
    (Gallus gallus)
    Aves ARVCF1 armadillo repeat gene deleted in velocardiofacial syndrome 67.26(n)
    70.64(a)
      395119  NM_204465.1  NP_989796.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia AF287051.12   -- 74.83(n)    AF287051.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570966162   -- 74.56(n)    57096616 
    fruit fly
    (Drosophila melanogaster)
    Insecta p120ctn3   -- 45(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea jac-13   -- 34(a)   IV(15998290-16017650)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARVCF gene
    PKP12  CTNND12  PKP22  PKP32  CTNND22  PKP42  
    6 SIMAP similar genes for ARVCF using alignment to 5 protein entries:     ARVC_HUMAN (see all proteins):
    DKFZp781O2021    CTNND1    ps1ly2h-25    CTNND2    PKP1    PKP4

    Find genes that share paralogs with ARVCF           About GenesLikeMe



    (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 ARVCF (see all 1266)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713139331,2
    C,F--3595659(+) CCCACT/CTCCCA 1 -- int12Minor allele frequency- C:0.33NA 122
    rs340359261,2
    C--3614757(+) GTCTC-/AAAAAA 1 -- int10--------
    rs680915521,2
    C--3616174(+) TACAC-/AGAGAGA 1 -- int10--------
    rs2016062421,2
    --3620270(+) CCCCC-/GCCCAC 1 -- int10--------
    rs762060391,2
    C,F--3620273(+) CCCCCA/C/GACCCA 1 -- int12NA 4
    rs355930001,2
    F--3898197(-) TGGTCT/GGAGCC 1 -- int15Minor allele frequency- G:0.01MN 408
    rs354812701,2
    C,F--3898208(-) GATGCG/AGGAGC 1 -- int15Minor allele frequency- A:0.01MN 408
    rs1437597061,2
    C--3898226(+) GTTGCC/TTCCCT 1 -- int10--------
    rs93323821,2
    C--3898258(+) TGCTGG/TTTTCT 1 -- int16Minor allele frequency- T:0.00NS MN 572
    rs1657281,2
    C,F,H--3898265(+) TTCTGT/CCCACC 1 -- int131Minor allele frequency- C:0.14NS EA MN NA WA CSA 2930

    HapMap Linkage Disequilibrium report for ARVCF (19957402 - 20004331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARVCF (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    esv2723992CNV Deletion23290073
    nsv3560CNV Insertion18451855
    nsv914327CNV Loss21882294
    dgv4848n71CNV Loss21882294
    nsv469641CNV Loss16826518
    nsv914331CNV Loss21882294
    dgv4853n71CNV Loss21882294
    dgv4849n71CNV Loss21882294
    dgv4850n71CNV Loss21882294

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

    (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: 602269    OMIM disorders: --

    5 diseases for ARVCF:    
    About MalaCards
    spinocerebellar ataxia type 10    digeorge syndrome    cleft palate    velocardiofacial syndrome
    schizophrenia

    2 diseases from the University of Copenhagen DISEASES database for ARVCF:
    Velocardiofacial syndrome     Schizophrenia

    Find genes that share disorders with ARVCF           About GenesLikeMe

    2 Novoseek inferred disease relationships for ARVCF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    velocardiofacial syndrome 73.9 4 15555361 (1), 15861775 (1), 15509897 (1)
    schizophrenia 36 10 19508883 (4), 15555361 (2), 15861775 (2), 15560973 (1) (see all 5)

    Genetic Association Database (GAD): ARVCF
    Human Genome Epidemiology (HuGE) Navigator: ARVCF (10 documents)

    Export disorders for ARVCF 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 ARVCF gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with ARVCF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. (PubMed id 9126485)1, 2, 3, 9 Sirotkin H.... Kucherlapati R. (Genomics 1997)
    2. No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. (PubMed id 18198266)1, 4, 9 Sanders A.R....Gejman P.V. (Am J Psychiatry 2008)
    3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. A functional variant provided further evidence for the association of ARVCF with schizophrenia. (PubMed id 20333729)1, 4 Mas S....Lafuente A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    10. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PubMed id 19706687)1, 2 Stenzel N.... Erdmann K.S. (J. Cell Sci. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 421 HGNC: 728 AceView: ARVCF Ensembl:ENSG00000099889 euGenes: HUgn421
    ECgene: ARVCF H-InvDB: ARVCF

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ARVCF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ARVCF gene:
    Search GeneIP for patents involving ARVCF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, LSBio, eBioscience, 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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