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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARVCF
ARVCF delta catenin family member
Chromosome 22 · 22q11.21
NCBI Gene: 421Ensembl: ENSG00000099889.14HGNC: HGNC:728UniProt: C9JJX6
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcadherin bindingplasma membraneadherens junctionresponse to tramadolAbnormality of the skeletal systemmathematical abilitycoronary artery disease
✦AI Summary

ARVCF (Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome) is a p120 catenin family member with dual functions in cell adhesion and RNA processing. Primary function: ARVCF localizes to adherens junctions through cadherin binding and interacts with PDZ-domain proteins zonula occludens-1 and ZO-2, which regulate its subcellular localization between the plasma membrane and nucleus 1. Mechanism: ARVCF contributes to alternative splicing regulation through interaction with splicing factor hnRNPH2, functioning as a p53 target gene that modulates splicing patterns to support tumor suppression 2. The protein exhibits prominent cytoplasmic localization in cultured cells and is specifically detected in renal proximal tubules 3. Disease relevance: ARVCF hemizygosity contributes to velo-cardio-facial syndrome phenotypes 4. Genome-wide association studies demonstrate causal relationships between ARVCF expression in frontal cortex and nucleus accumbens with alcohol dependence; Arvcf knockout mice lack conditioned place preference for alcohol 5. ARVCF functions as a prognostic biomarker in breast cancer metastasis, identified through exosome-related gene analysis 6. Clinical significance: ARVCF serves as a therapeutic target in renal pelvis carcinoma 7 and is an autoantigen in endemic pemphigus foliaceus 8.

Sources cited
1
ARVCF interacts with ZO-1 and ZO-2 PDZ-domain proteins; cell-cell adhesion regulates ARVCF plasma membrane and nuclear localization
PMID: 15456900
2
ARVCF is a p53 target gene that interacts with hnRNPH2 to modulate alternative splicing and support p53 tumor suppressive function
PMID: 31827232
3
ARVCF is prominently detected in renal proximal tubules and exhibits cytoplasmic localization in cultured cells
PMID: 18600340
4
ARVCF is deleted in velo-cardio-facial syndrome; hemizygosity may contribute to VCFS phenotypes
PMID: 9126485
5
ARVCF expression in frontal cortex and nucleus accumbens has causal relationship with alcohol dependence; Arvcf knockout mice lack alcohol conditioned place preference
PMID: 39429782
6
ARVCF is identified as exosome-related prognostic gene in breast cancer metastasis with predictive accuracy for patient survival
PMID: 39847423
7
ARVCF is identified as therapeutic target in renal pelvis lymphoepithelioma-like carcinoma
PMID: 36052737
8
ARVCF is an autoantigen in endemic pemphigus foliaceus El Bagre variant, targeted by antinuclear antibodies
PMID: 35899599
Disease Associationsⓘ20
response to tramadolOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
mathematical abilityOpen Targets
0.36Weak
coronary artery diseaseOpen Targets
0.33Weak
occlusion precerebral arteryOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Raynaud diseaseOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
hypertensionOpen Targets
0.25Weak
liver diseaseOpen Targets
0.16Weak
clavicle fractureOpen Targets
0.16Weak
shoulder fractureOpen Targets
0.16Weak
microcephalyOpen Targets
0.11Weak
alcohol dependenceOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
Norrie diseaseOpen Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.05Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction100%COMTProtein interaction90%TXNRD2Protein interaction86%ERBINProtein interaction83%FMR1Protein interaction80%PKP3Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
82%
Heart
61%
Ovary
44%
Brain
40%
Lung
39%
Gene Interaction Network
Click a node to explore
ARVCFCTNNB1COMTTXNRD2ERBINFMR1PKP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O00192
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.69–1.03]
RankingsWhere ARVCF stands among ~20K protein-coding genes
  • #7,040of 20,598
    Most Researched66
  • #10,223of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedARVCF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and validation of a novel gene
PMID: 39429782
iScience · 2024
1.00
2
Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney.
PMID: 18600340
Histochem Cell Biol · 2008
0.90
3
Integrating RNA-seq and scRNA-seq to explore the prognostic features and immune landscape of exosome-related genes in breast cancer metastasis.
PMID: 39847423
Ann Med · 2025
0.80
4
p53-induced ARVCF modulates the splicing landscape and supports the tumor suppressive function of p53.
PMID: 31827232
Oncogene · 2020
0.70
5
Analysis of genetic profiling, pathomics signature, and prognostic features of primary lymphoepithelioma-like carcinoma of the renal pelvis.
PMID: 36052737
Mol Oncol · 2022
0.60