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Aliases for ARVCF Gene

Aliases for ARVCF Gene

  • Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome 2 3

External Ids for ARVCF Gene

Previous GeneCards Identifiers for ARVCF Gene

  • GC22M016897
  • GC22M018331
  • GC22M019957
  • GC22M003577

Summaries for ARVCF Gene

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 velocardiofacial syndrome and schizophrenia. An important paralog of this gene is PKP3.

UniProtKB/Swiss-Prot for ARVCF Gene

  • Involved in protein-protein interactions at adherens junctions

Gene Wiki entry for ARVCF Gene

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

Genomics for ARVCF Gene

Regulatory Elements for ARVCF Gene

Epigenetics Products

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

Genomic Location for ARVCF Gene

Start:
19,966,603 bp from pter
End:
20,016,808 bp from pter
Size:
50,206 bases
Orientation:
Minus strand

Genomic View for ARVCF Gene

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

RefSeq DNA sequence for ARVCF Gene

Proteins for ARVCF Gene

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

    Protein Symbol:
    O00192-ARVC_HUMAN
    Recommended name:
    Armadillo repeat protein deleted in velo-cardio-facial syndrome
    Protein Accession:
    O00192
    Secondary Accessions:
    • B7WNV2

    Protein attributes for ARVCF Gene

    Size:
    962 amino acids
    Molecular mass:
    104642 Da
    Quaternary structure:
    • Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain).

    Alternative splice isoforms for ARVCF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARVCF Gene

Proteomics data for ARVCF Gene at MOPED

Post-translational modifications for ARVCF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARVCF Gene

Antibody Products

No data available for DME Specific Peptides for ARVCF Gene

Domains for ARVCF Gene

Gene Families for ARVCF Gene

HGNC:
  • ARMC :Armadillo repeat containing

Protein Domains for ARVCF Gene

Graphical View of Domain Structure for InterPro Entry

O00192

UniProtKB/Swiss-Prot:

ARVC_HUMAN :
  • O00192
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 10 ARM repeats.
genes like me logo Genes that share domains with ARVCF: view

Function for ARVCF Gene

Molecular function for ARVCF Gene

GENATLAS Biochemistry:
Drosophila armadillo repeat gene homolog,catenin family,ubiquitously expressed,involved in protein-protein interaction at adherens juctions,deleted in the velocardiofacial syndrome
UniProtKB/Swiss-Prot Function:
Involved in protein-protein interactions at adherens junctions

Gene Ontology (GO) - Molecular Function for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 19706687
genes like me logo Genes that share ontologies with ARVCF: view

Phenotypes for ARVCF Gene

genes like me logo Genes that share phenotypes with ARVCF: view

Animal Models for ARVCF Gene

MGI Knock Outs for ARVCF:

Animal Model Products

miRNA for ARVCF Gene

miRTarBase miRNAs that target ARVCF

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ARVCF Gene

Localization for ARVCF Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARVCF Gene COMPARTMENTS Subcellular localization image for ARVCF gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9126485
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARVCF: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARVCF Gene

Pathways for ARVCF Gene

SuperPathways for ARVCF Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 9126485
GO:0007275 multicellular organismal development IEA --
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA --
genes like me logo Genes that share ontologies with ARVCF: view

No data available for Pathways by source for ARVCF Gene

Compounds for ARVCF Gene

(1) PharmGKB related drug/compound annotations for ARVCF Gene

Drug/compound Annotation
bupropion CA
genes like me logo Genes that share compounds with ARVCF: view

Transcripts for ARVCF Gene

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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

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: - -
SP6: -
SP7:
SP8: - - -
SP9:

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ARVCF Gene

GeneLoc Exon Structure for
ARVCF
ECgene alternative splicing isoforms for
ARVCF

Expression for ARVCF Gene

mRNA expression in normal human tissues for ARVCF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARVCF Gene

This gene is overexpressed in Brain - Cerebellum (5.5) and Brain - Cerebellar Hemisphere (5.4).

Protein differential expression in normal tissues for ARVCF Gene

This gene is overexpressed in NK cells (19.8), Fetal Brain (15.2), Urinary Bladder (7.6), and Neutrophil (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARVCF Gene

mRNA Expression by UniProt/SwissProt for ARVCF Gene

O00192-ARVC_HUMAN
Tissue specificity: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung
genes like me logo Genes that share expressions with ARVCF: view

In Situ Assay Products

No data available for Expression partners for ARVCF Gene

Orthologs for ARVCF Gene

This gene was present in the common ancestor of animals.

Orthologs for ARVCF Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ARVCF 35
  • 87.7 (n)
  • 94.06 (a)
ARVCF 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arvcf 35
  • 85.69 (n)
  • 91.77 (a)
Arvcf 16
Arvcf 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARVCF 35
  • 99.32 (n)
  • 99.24 (a)
ARVCF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arvcf 35
  • 84.67 (n)
  • 91.85 (a)
cow
(Bos Taurus)
Mammalia ARVCF 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARVCF 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARVCF 35
  • 67.26 (n)
  • 70.64 (a)
ARVCF 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arvcf 35
  • 66.36 (n)
  • 70.39 (a)
Str.7453 35
zebrafish
(Danio rerio)
Actinopterygii arvcfb 35
  • 66.28 (n)
  • 67.58 (a)
arvcfa 36
  • 51 (a)
OneToMany
arvcfb 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 37
  • 45 (a)
p120ctn 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jac-1 37
  • 34 (a)
jac-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for ARVCF:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ARVCF Gene

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

Paralogs for ARVCF Gene

Paralogs for ARVCF Gene

Selected SIMAP similar genes for ARVCF Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ARVCF: view

Variants for ARVCF Gene

Sequence variations from dbSNP and Humsavar for ARVCF Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs165815 - 19,971,950(+) CCCTC(C/T)GGTCC missense, reference
rs165824 -- 19,971,843(+) GACAC(A/G)GGGCC intron-variant
rs165849 -- 19,971,146(+) GCAGC(A/G)GAGAC intron-variant
rs361622 -- 19,971,167(-) CTGGG(-/G)CCAGG intron-variant
rs732596 -- 19,998,625(+) TTTCC(C/T)CTCTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
nsv469641 CNV Loss 16826518
dgv72n68 CNV Loss 17160897
nsv914306 CNV Loss 21882294
dgv4848n71 CNV Loss 21882294
dgv4849n71 CNV Loss 21882294
dgv4850n71 CNV Loss 21882294
dgv4851n71 CNV Loss 21882294
nsv517165 CNV Loss 19592680
dgv4852n71 CNV Loss 21882294
dgv4853n71 CNV Loss 21882294
nsv914327 CNV Loss 21882294
esv24218 CNV Gain 19812545
esv2723992 CNV Deletion 23290073
esv993624 CNV Loss 20482838
dgv4854n71 CNV Loss 21882294
nsv914330 CNV Gain 21882294
nsv914331 CNV Loss 21882294
nsv3560 CNV Insertion 18451855

Relevant External Links for ARVCF Gene

HapMap Linkage Disequilibrium report
ARVCF
Human Gene Mutation Database (HGMD)
ARVCF

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

Disorders for ARVCF Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ARVCF Gene in MalaCards »

(2) Diseases for ARVCF Gene including...

(2) University of Copenhagen DISEASES for ARVCF Gene

(2) Novoseek inferred disease relationships for ARVCF Gene

Disease -log(P) Hits PubMed IDs
velocardiofacial syndrome 73.9 3
schizophrenia 36 10

Relevant External Links for ARVCF

Genetic Association Database (GAD)
ARVCF
Human Genome Epidemiology (HuGE) Navigator
ARVCF
genes like me logo Genes that share disorders with ARVCF: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for ARVCF Gene

Publications for ARVCF Gene

  1. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. (PMID: 9126485) Sirotkin H. … Kucherlapati R. (Genomics 1997) 2 3 4 23
  2. No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. (PMID: 18198266) Sanders A.R. … Gejman P.V. (Am J Psychiatry 2008) 3 23 48
  3. The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. (PMID: 11821434) Laura R.P. … Lasky L.A. (J. Biol. Chem. 2002) 3 23
  4. Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney. (PMID: 18600340) Walter B. … Hofmann I. (Histochem. Cell Biol. 2008) 3 23
  5. ARVCF single marker and haplotypic association with schizophrenia. (PMID: 19508883) Mas S. … Lafuente A. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 23

Products for ARVCF Gene

Sources for ARVCF Gene

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