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Gene Review

ARVCF  -  armadillo repeat gene deleted in...

Homo sapiens

Synonyms: Armadillo repeat protein deleted in velo-cardio-facial syndrome
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Disease relevance of ARVCF


Psychiatry related information on ARVCF


High impact information on ARVCF

  • Here, we show that ARVCF interacts via a C-terminal PDZ-binding motif with zonula occludens (ZO)-1 and ZO-2 [4].
  • Nuclear localization of ARVCF also requires the PDZ-binding motif and can be mediated by the PDZ domains of ZO-2 [4].
  • E-cadherin binding and plasma membrane localization of ARVCF require the PDZ-binding motif [4].
  • Disruption of cell-cell adhesion releases ARVCF from the plasma membrane and an increased fraction of the protein localizes to the nucleus [4].
  • ARVCF, an armadillo-repeat protein of the p120(ctn) family, associates with classical cadherins and is present in adherens junctions, but its function is poorly understood [4].

Biological context of ARVCF

  • We found nominal evidence for association of illness to rs165849 (P=0.051) in ARVCF, and a stronger signal (global P=0.0019-0.0036) from three-marker haplotypes spanning the 3' portions of COMT and ARVCF, including Val(108/158)Met with Val(108/158) being the overtransmitted allele, consistent with previous studies [5].
  • We also find Val(108/158)Met to be in linkage disequilibrium with the markers in ARVCF [5].
  • In the present study, we extended the original sample to include 85 family trios [66 AN restricting (AN-R) and 19 bingeing/purging (AN-BP) subtype] and performed a family-based transmission disequilibrium test (TDT) analysis for five SNPs in the COMT and two in the adjacent ARVCF gene [3].
  • ARVCF also completely lacked the ability to induce the cell-branching phenotype associated with overexpression of p120 [6].
  • ARVCF is a novel Armadillo repeat domain protein that is closely related to the catenin p120(ctn) [6].

Anatomical context of ARVCF

  • Bands of ARVCF-positive cells were also identified in the gangliothalamic body, a transient target for the migrating neurons from the GE to the thalamus [7].

Other interactions of ARVCF

  • ARVCF and ZO-1 partially colocalize in the vicinity of the apical adhesion complex in polarized epithelial Madin-Darby canine kidney cells [4].
  • These results suggest that delta-catenin and ARVCF may function to mediate the association of Erbin with the junctional cadherin-catenin complex [8].
  • These findings support previous association signals of schizophrenia to COMT markers, and suggest that ARVCF might contribute to this signal [5].
  • ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes [6].
  • Variant forms for other transcripts, including those encoding the apoptosis inhibitor Livin and the armadillo repeat protein ARVCF, are also described [9].

Analytical, diagnostic and therapeutic context of ARVCF


  1. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Sirotkin, H., O'Donnell, H., DasGupta, R., Halford, S., St Jore, B., Puech, A., Parimoo, S., Morrow, B., Skoultchi, A., Weissman, S.M., Scambler, P., Kucherlapati, R. Genomics (1997) [Pubmed]
  2. Molecular diversity of plaques of epithelial-adhering junctions. Borrmann, C.M., Mertens, C., Schmidt, A., Langbein, L., Kuhn, C., Franke, W.W. Ann. N. Y. Acad. Sci. (2000) [Pubmed]
  3. Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios. Michaelovsky, E., Frisch, A., Leor, S., Stein, D., Danziger, Y., Carel, C., Fennig, S., Mimouni, M., Klauck, S.M., Benner, A., Poustka, A., Apter, A., Weizman, A. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005) [Pubmed]
  4. Association of ARVCF with zonula occludens (ZO)-1 and ZO-2: binding to PDZ-domain proteins and cell-cell adhesion regulate plasma membrane and nuclear localization of ARVCF. Kausalya, P.J., Phua, D.C., Hunziker, W. Mol. Biol. Cell (2004) [Pubmed]
  5. Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia. Sanders, A.R., Rusu, I., Duan, J., Vander Molen, J.E., Hou, C., Schwab, S.G., Wildenauer, D.B., Martinez, M., Gejman, P.V. Mol. Psychiatry (2005) [Pubmed]
  6. ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes. Mariner, D.J., Wang, J., Reynolds, A.B. J. Cell. Sci. (2000) [Pubmed]
  7. Expression of ARVCF in the human ganglionic eminence during fetal development. Ulfig, N., Chan, W.Y. Dev. Neurosci. (2004) [Pubmed]
  8. The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. Laura, R.P., Witt, A.S., Held, H.A., Gerstner, R., Deshayes, K., Koehler, M.F., Kosik, K.S., Sidhu, S.S., Lasky, L.A. J. Biol. Chem. (2002) [Pubmed]
  9. Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. Wistow, G., Bernstein, S.L., Wyatt, M.K., Behal, A., Touchman, J.W., Bouffard, G., Smith, D., Peterson, K. Mol. Vis. (2002) [Pubmed]
  10. Production and characterization of monoclonal antibodies to ARVCF. Mariner, D.J., Sirotkin, H., Daniel, J.M., Lindman, B.R., Mernaugh, R.L., Patten, A.K., Thoreson, M.A., Reynolds, A.B. Hybridoma (1999) [Pubmed]
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