ARVCF

Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.^[5][6][7]

ARVCF
Identifiers
Aliases	ARVCF, armadillo repeat gene deleted in velocardiofacial syndrome, delta catenin family member, ARVCF delta catenin family member
External IDs	OMIM: 602269; MGI: 109620; HomoloGene: 31046; GeneCards: ARVCF; OMA:ARVCF - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,969,896 bp[1] End 20,016,823 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.37 cM Start 18,348,182 bp[2] End 18,407,076 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum beta cell olfactory bulb right lobe of thyroid gland ventricular zone ascending aorta vena cava apex of heart sural nerve Top expressed in lens ventricular zone mesencephalon ganglionic eminence neural tube uterus hypothalamus placenta lip rhombencephalon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding cadherin binding Cellular component cytoplasm plasma membrane intracellular anatomical structure nucleus cell-cell junction Biological process multicellular organism development calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell adhesion cell-cell adhesion cell-cell junction assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 421 11877 Ensembl ENSG00000099889 ENSMUSG00000000325 UniProt O00192 P98203 RefSeq (mRNA) NM_001670 NM_001272028 NM_001272029 NM_001272030 NM_001272031 NM_001272032 NM_033474 RefSeq (protein) NP_001661 NP_001258957 NP_001258958 NP_001258959 NP_001258960 NP_001258961 NP_258435 Location (UCSC) Chr 22: 19.97 – 20.02 Mb Chr 16: 18.35 – 18.41 Mb PubMed search [3] [4]
Wikidata
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Function

Armadillo repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play 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. 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. 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.^[7]

Interactions

ARVCF has been shown to interact with CDH15.^[8]