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Aliases for ARVCF Gene

Aliases for ARVCF Gene

  • ARVCF, Delta Catenin Family Member 2 3 5
  • Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome 2

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 Malignant Ependymoma. Gene Ontology (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

Additional gene information for ARVCF Gene

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

Genomics for ARVCF Gene

GeneHancer (GH) Regulatory Elements for ARVCF Gene

Promoters and enhancers for ARVCF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I020015 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 571.3 +0.1 97 1.4 HDGF PKNOX1 SMAD1 ATF1 ARNT ARID4B DMAP1 ZNF48 ZNF121 GLIS2 ARVCF TANGO2 DGCR8 UFD1 SNAP29 GC22M019988
GH22I020001 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 567 +14.2 14181 1.9 HDAC1 YBX3 PKNOX1 ARNT CHAMP1 ZNF280A CBX5 ZNF263 ZBTB2 CEBPB ARVCF RPL7AP70 UFD1 DGCR11 GC22M019988
GH22I019974 Enhancer 1.4 Ensembl ENCODE dbSUPER 26.9 +41.6 41607 2.2 HDGF PKNOX1 ATF1 ARNT SIN3A TCF12 GLIS2 ARID2 ZNF143 FOS ARVCF ABHD17AP4 UFD1 RPL7AP70 COMT GC22P019980 MIR4761
GH22I019970 Enhancer 1.2 ENCODE dbSUPER 24.2 +45.6 45568 2.4 HDGF HNRNPUL1 FOXA2 SMAD1 MLX ARNT ARID4B DMAP1 YY1 POLR2B MED15 DGCR8 ARVCF TRMT2A RPL7AP70 RPL8P5 ENSG00000273300 LOC100420177 LINC01311 DGCR11
GH22I019985 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 16.3 +30.0 29974 2.1 HDGF ATF1 SIN3A ZNF48 GLIS2 ATF7 ZNF263 SP3 REST SNIP1 GC22M019988 TRMT2A DGCR8 LZTR1 MED15 RPL8P5 ARVCF ENSG00000273300 LOC100420177 LINC01311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARVCF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARVCF gene promoter:

Genomic Locations for ARVCF Gene

Genomic Locations for ARVCF Gene
chr22:19,966,603-20,016,808
(GRCh38/hg38)
Size:
50,206 bases
Orientation:
Minus strand
chr22:19,957,402-20,004,331
(GRCh37/hg19)

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:
    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

Post-translational modifications for ARVCF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

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 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 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

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

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (3)
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 --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane 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: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 --
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

No Compound Related Data Available

Transcripts for ARVCF Gene

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ARVCF Gene



NURSA nuclear receptor signaling pathways regulating expression of ARVCF Gene:

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)

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

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 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia ARVCF 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARVCF 33 34
  • 87.7 (n)
mouse
(Mus musculus)
Mammalia Arvcf 33 16 34
  • 85.69 (n)
rat
(Rattus norvegicus)
Mammalia Arvcf 33
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ARVCF 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARVCF 33 34
  • 67.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia arvcf 33
  • 66.36 (n)
Str.7453 33
zebrafish
(Danio rerio)
Actinopterygii arvcfb 34 33
  • 66.28 (n)
OneToMany
arvcfa 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 35 34
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 35 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for ARVCF was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs763923625 likely-benign, Long QT syndrome 19,977,493(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs16982871 likely-benign, not provided 19,978,040(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397758621 benign, not specified 19,968,740(-) CCCCCCC/CCCCCC/CCCCCCCC/CCCCCCCCC genic_downstream_transcript_variant, intron_variant
rs1000022300 -- 20,015,424(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000080644 -- 19,975,376(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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

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

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • chromosome 22q11.2 deletion syndrome
malignant ependymoma
  • ependymal neoplasm
schizophrenia
  • sczd
- 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
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 22 58
  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 22 44 58
  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 58
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58

Products for ARVCF Gene

Sources for ARVCF Gene

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