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Aliases for ARVCF Gene

Aliases for ARVCF Gene

  • Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome 2 3 5

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 Malignant Ependymoma. GO annotations related to this gene include binding. An important paralog of this gene is CTNND1.

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

Enhancers for ARVCF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARVCF on UCSC Golden Path with GeneCards custom track

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

ENSRs around ARVCF on UCSC Golden Path with GeneCards custom track

Genomic Location for ARVCF Gene

19,966,603 bp from pter
20,016,808 bp from pter
50,206 bases
Minus strand

Genomic View for ARVCF Gene

Genes around ARVCF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARVCF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Armadillo repeat protein deleted in velo-cardio-facial syndrome
    Protein Accession:
    Secondary Accessions:
    • B7WNV2

    Protein attributes for ARVCF Gene

    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


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

No data available for DME Specific Peptides for ARVCF Gene

Domains & Families for ARVCF Gene

Gene Families for ARVCF Gene

Protein Domains for ARVCF Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-catenin family.
  • Contains 10 ARM repeats.
  • Belongs to the beta-catenin family.
  • 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.

Phenotypes for ARVCF Gene

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

Human Phenotype Ontology for ARVCF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARVCF Gene

MGI Knock Outs for ARVCF:

Animal Model Products

miRNA for ARVCF Gene

miRTarBase miRNAs that target ARVCF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ARVCF Gene

Localization for ARVCF Gene

Subcellular locations from

Jensen Localization Image for ARVCF Gene COMPARTMENTS Subcellular localization image for ARVCF gene
Compartment Confidence
nucleus 4
plasma membrane 4
cytosol 3

Gene Ontology (GO) - Cellular Components for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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 & Interactions for ARVCF Gene

SuperPathways for ARVCF Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016337 single organismal cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with ARVCF: view

No data available for Pathways by source and SIGNOR curated interactions for ARVCF Gene

Drugs & Compounds for ARVCF Gene

(1) Drugs for ARVCF Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupropion Approved Pharma 312
genes like me logo Genes that share compounds with ARVCF: view

Transcripts for ARVCF Gene

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: -
SP4: - - -
SP5: - -
SP6: -
SP8: - - -

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20

Relevant External Links for ARVCF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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 (x5.5) and Brain - Cerebellar Hemisphere (x5.4).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARVCF Gene

mRNA Expression by UniProt/SwissProt for ARVCF Gene

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 expression patterns with ARVCF: view

Primer Products

No data available for Protein tissue co-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
(Canis familiaris)
Mammalia ARVCF 35
  • 87.7 (n)
  • 94.06 (a)
  • 88 (a)
(Mus musculus)
Mammalia Arvcf 35
  • 85.69 (n)
  • 91.77 (a)
Arvcf 16
Arvcf 36
  • 92 (a)
(Pan troglodytes)
Mammalia ARVCF 35
  • 99.32 (n)
  • 99.24 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Arvcf 35
  • 84.67 (n)
  • 91.85 (a)
(Bos Taurus)
Mammalia ARVCF 36
  • 90 (a)
(Monodelphis domestica)
Mammalia ARVCF 36
  • 60 (a)
(Gallus gallus)
Aves ARVCF 35
  • 67.26 (n)
  • 70.64 (a)
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arvcf 35
  • 66.36 (n)
  • 70.39 (a)
Str.7453 35
(Danio rerio)
Actinopterygii arvcfb 35
  • 66.28 (n)
  • 67.58 (a)
arvcfa 36
  • 51 (a)
arvcfb 36
  • 65 (a)
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 37
  • 45 (a)
p120ctn 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea jac-1 37
  • 34 (a)
jac-1 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
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

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

Paralogs for ARVCF Gene

Paralogs for ARVCF Gene

(6) 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
rs2240717 - 19,981,583(-) CCCAG(C/T)GGCCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs165815 - 19,971,950(+) CCCTC(C/T)GGTCC nc-transcript-variant, reference, missense
rs2073748 - 19,981,448(-) TGGCC(C/T)AGGCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs34687532 - 19,971,942(-) GGGAG(C/T)GGAGG nc-transcript-variant, reference, missense
rs34638476 - 19,971,941(-) GGAGC(A/G)GAGGC nc-transcript-variant, reference, missense

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

Variation tolerance for ARVCF Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.90; 87.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARVCF Gene

Human Gene Mutation Database (HGMD)

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

Disorders for ARVCF Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARVCF Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
malignant ependymoma
  • ependymal neoplasm
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search ARVCF in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARVCF

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 ARVCF: view

No data available for 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 67
  2. ARVCF single marker and haplotypic association with schizophrenia. (PMID: 19508883) Mas S. … Lafuente A. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 23
  3. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. (PMID: 19617637) Suzuki G. … Hiroi N. (Hum. Mol. Genet. 2009) 3 23
  4. 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
  5. 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

Products for ARVCF Gene

Sources for ARVCF Gene