ARVCF Gene (Protein Coding)

ARVCF Delta Catenin Family Member

GC22M019966
GIFtS:
38
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 autos... See more...

Aliases for ARVCF Gene

Aliases for ARVCF Gene

  • ARVCF Delta Catenin Family Member 2 3 5
  • Armadillo Repeat Protein Deleted In Velo-Cardio-Facial Syndrome 3 4
  • Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome 2 3
  • ARVCF 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 (ARVCF Delta Catenin Family Member) is a Protein Coding gene. Diseases associated with ARVCF include Velocardiofacial Syndrome and Digeorge Syndrome. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is CTNND1.

UniProtKB/Swiss-Prot Summary for ARVCF Gene

Gene Wiki entry for ARVCF Gene

Additional gene information for ARVCF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARVCF Gene

Genomics for ARVCF Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ARVCF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARVCF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARVCF

Top Transcription factor binding sites by QIAGEN in the ARVCF gene promoter:
  • HEN1
  • HTF
  • LCR-F1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • RelA
  • STAT3

Genomic Locations for ARVCF Gene

Genomic Locations for ARVCF Gene
chr22:19,966,727-20,016,823
(GRCh38/hg38)
Size:
50,097 bases
Orientation:
Minus strand
chr22:19,957,402-20,004,331
(GRCh37/hg19)
Size:
46,930 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ARVCF Gene

Proteins for ARVCF Gene

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  • 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). Interacts with CCDC85B (PubMed:25009281).

    Alternative splice isoforms for ARVCF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARVCF Gene

Protein Expression for ARVCF Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ARVCF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARVCF Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARVCF Gene

Domains & Families for ARVCF Gene

Gene Families for ARVCF Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARVCF Gene

InterPro:
Blocks:
  • Armadillo repeat
ProtoNet:

Suggested Antigen Peptide Sequences for ARVCF Gene

GenScript: Design optimal peptide antigens:
  • Armadillo repeat protein deleted in velo-cardio-facial syndrome (ARVC_HUMAN)
  • Armadillo repeat gene deletes in velocardiofacial syndrome, isoform CRA_b (B9EH95_HUMAN)
  • ARVCF protein (Q05BN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00192

UniProtKB/Swiss-Prot:

ARVC_HUMAN :
  • Belongs to the beta-catenin family.
Family:
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with ARVCF: view

Function for ARVCF Gene

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  2. CRISPR
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Molecular function for ARVCF Gene

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

Phenotypes From GWAS Catalog for ARVCF Gene

Gene Ontology (GO) - Molecular Function for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19706687
GO:0045296 cadherin binding IBA 21873635
genes like me logo Genes that share ontologies with ARVCF: view
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:
  • Arvcf Arvcf<tm1a(EUCOMM)Wtsi>
  • Arvcf Arvcf<tm1e(EUCOMM)Wtsi>
  • Arvcf Arvcf<tm1Ais>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARVCF

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

Localization for ARVCF Gene

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 ARVCF gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
cytoskeleton 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9126485
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0005911 cell-cell junction IBA 21873635
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

PathCards logo

SuperPathways for ARVCF Gene

No Data Available

SIGNOR curated interactions for ARVCF Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARVCF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007043 cell-cell junction assembly IBA 21873635
GO:0007155 cell adhesion TAS 9126485
GO:0007275 multicellular organism development IEA --
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA --
GO:0098609 cell-cell adhesion IEA,IBA 21873635
genes like me logo Genes that share ontologies with ARVCF: view

No data available for Pathways by source for ARVCF Gene

Drugs & Compounds for ARVCF Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ARVCF Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ARVCF Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARVCF

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

Expression for ARVCF Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARVCF Gene

mRNA expression in normal human tissues for ARVCF Gene
mRNA expression by BioGPS for ARVCF GenemRNA expression by GTEx 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, MaxQB, and MOPED for ARVCF Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARVCF

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.

Evidence on tissue expression from TISSUES for ARVCF Gene

  • Liver(4.4)
  • Nervous system(2.4)
  • Heart(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARVCF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
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
Chimpanzee
(Pan troglodytes)
 Mammalia ARVCF 30 31
  • 99.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ARVCF 31
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ARVCF 30 31
  • 87.7 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Arvcf 30 17 31
  • 85.69 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Arvcf 30
  • 84.67 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ARVCF 31
  • 60 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ARVCF 30 31
  • 67.26 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia arvcf 30
  • 66.36 (n)
Str.7453 30
Zebrafish
(Danio rerio)
 Actinopterygii arvcfb 30 31
  • 66.28 (n)
 OneToMany
arvcfa 31
  • 51 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta p120ctn 31 32
  • 35 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea jac-1 31 32
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 OneToMany
Species where no ortholog for ARVCF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARVCF: view image

Paralogs for ARVCF Gene

Paralogs for ARVCF Gene

(6) SIMAP similar genes for ARVCF Gene using alignment to 5 proteins:

  • ARVC_HUMAN
  • B9EH95_HUMAN
  • C9JJX6_HUMAN
  • E9PDC3_HUMAN
  • Q05BN6_HUMAN
genes like me logo Genes that share paralogs with ARVCF: view

Variants for ARVCF Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARVCF Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
709187 Benign: not provided 19,971,933(-) G/A MISSENSE_VARIANT
709198 Benign: not provided 19,971,941(-) C/T MISSENSE_VARIANT
709199 Benign: not provided 19,972,976(-) C/T SYNONYMOUS_VARIANT
712281 Benign: not provided 19,979,039(-) C/T MISSENSE_VARIANT
712282 Benign: not provided 19,979,087(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ARVCF Gene

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

Variant ID Type Subtype PubMed ID
dgv72n68 CNV loss 17160897
dgv7983n54 CNV gain 21841781
dgv7984n54 CNV loss 21841781
esv24218 CNV gain 19812545
esv3584493 CNV gain 24956385
esv3647284 CNV gain 21293372
esv3893434 CNV gain 25118596
esv993624 CNV loss 20482838
nsv1055752 CNV gain 25217958
nsv1063337 CNV gain 25217958
nsv1064496 CNV gain 25217958
nsv1114307 CNV deletion 24896259
nsv3560 CNV insertion 18451855
nsv469641 CNV loss 16826518
nsv517165 CNV loss 19592680
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv953026 CNV deletion 24416366

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)

Additional Variant Information for ARVCF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARVCF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • digeorge syndrome
digeorge syndrome
  • cayler cardiofacial syndrome
conjunctival degeneration
pinguecula
pseudo-torch syndrome 1
  • ptorch1
- elite association - COSMIC cancer census association via MalaCards
Search ARVCF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARVCF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. (PMID: 18198266) Sanders AR … Gejman PV (The American journal of psychiatry 2008) 3 23 41
  3. Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing. (PMID: 24644279) Rappe U … Hofmann I (The Journal of biological chemistry 2014) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41

ExternalLinks

View latest publications for ARVCF gene in Mastermind

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