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Gene Review

TBC1D2  -  TBC1 domain family, member 2

Homo sapiens

Synonyms: Armus, PARIS-1, PARIS1, PP8997, Prostate antigen recognized and identified by SEREX 1, ...
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Disease relevance of TBC1D2


Psychiatry related information on TBC1D2

  • Creutzfeldt-Jakob disease in France: I. Retrospective study of the Paris area during the ten-year period 1968-1977 [6].
  • This otherwise healthy young man, without a history of generalized epilepsy or hysteria, experienced multiple spells during which he suddenly became unaware of his surroundings, rambled throughout Paris and its outskirts, and had complex interactions with other people [7].
  • Sheltered accommodation in the community mental health service in the 13th Arrondissement of Paris [8].
  • The subjects, recruited at an eating-disorders clinic in Paris, were tested after an overnight fast and 2 hours after lunch [9].
  • Thirty children (20 girls and 10 boys, aged 6-16 years) with primary peptic ulcers, matched in paris for age, sex and socio-economic standard to a group of 30 ulcer-free controls, were submitted to a structured psychiatric interview, a structured 'present psychiatric state' examination and to personality and intelligence tests [10].

High impact information on TBC1D2

  • Only strain Paris contains a type V secretion system, and its Lvh type IV secretion system is encoded by a 36-kb region that is either carried on a multicopy plasmid or integrated into the chromosome [11].
  • Decline in semen quality among fertile men in Paris during the past 20 years [12].
  • Claude Bernard, the son of a Beaujolais winegrower, moved to Paris to pursue his literary ambitions and went on to become one of the fathers of modern life sciences [13].
  • SETTING: Orthopedic surgery department of a teaching hospital in Paris, France. PARTICIPANTS: A total of 1971 patients who underwent orthopedic surgery [14].
  • The average percent resistant to individual antibiotics was nearly three times greater, and the percent of isolates resistant to six or more antibiotics 14 times greater among isolates at the Hôpital St Joseph in Paris than among those at the Peter Bent Brigham Hospital in Boston or at any of six US hospitals [15].

Chemical compound and disease context of TBC1D2

  • The cell-permeable integrin beta 3 peptide (residues 747-762) carrying a known loss-of-function mutation (Ser752Pro) responsible for the genetic disorder Glanzmann thrombasthenia Paris I did not inhibit cell adhesion of HEL or ECV 304 cells, whereas the beta 3 peptide carrying a Ser752Ala mutation was inhibitory [16].
  • PURPOSE: To improve the control of hyperuricemia in patients with leukemia or lymphoma, we tested a newly developed uricolytic agent, recombinant urate oxidase (SR29142; Rasburicase; Sanofi-Synthelabo, Inc, Paris, France), which catalyzes the oxidation of uric acid to allantoin, a highly water-soluble metabolite readily excreted by the kidneys [17].
  • Hypertriglyceridaemia as a risk factor of coronary heart disease mortality in subjects with impaired glucose tolerance or diabetes. Results from the 11-year follow-up of the Paris Prospective Study [18].
  • In the Persantine-Aspirin Reinfarction Study, Part II (PARIS II), 3,128 persons who had recovered from myocardial infarction, suffered from 4 weeks to 4 months previously, were randomized into two groups: dipyridamole (Persantine) plus aspirin (n = 1,563) and placebo (n = 1,565) [19].
  • SETTING: The study took place within the Department of Endocrinology and Reproductive Medicine, Necker Hospital, Paris, France. PATIENTS: We describe eight patients with inflammatory gigantomastia, occurring in a context of immune-mediated diseases: myasthenia, chronic arthritis, or thyroiditis [20].

Biological context of TBC1D2

  • Thus, the PARIS-1 protein may play a role in regulation of cell differentiation and growth or represent a new member of the Rab-GAP family [1].
  • The PARIS-1 cDNA is 3257 bp in length and contains a complete open reading frame of 2751 bp encoding for a primary translation product of 917 amino acids [1].
  • The data on the semen samples were collected at one sperm bank in Paris. The data in each calendar year were analyzed as a function of the year of donation, the age of each patient, the year of birth, and the duration of sexual abstinence before semen collection [12].
  • Further support for localization of the abnormality in the COOH-terminal region of the molecule was obtained from the observation that during plasmic hydrolysis of Paris I fibrinogen, at least one unique form of core Fragment D (DParis I) was evolved, whereas Fragment E did not differ from normal [21].
  • We have used data from a survey of nurses in Paris, France, to examine the relation between ectopic pregnancy and various occupational exposures [22].

Anatomical context of TBC1D2


Associations of TBC1D2 with chemical compounds

  • The gamma-chains and alpha-chains of Paris I fibrin underwent Factor XIIIa-catalyzed cross-linking slowly; this behavior was not attributable to an intrinsic abnormality of these chains themselves but rather to the inhibitory effect of the mutant gammaParis I chains on this process [21].
  • Dodecyl sulfate gel electrophoresis of unreduced samples revealed no discernible differences in molecular weight from normal; this implied that in fibrinogen Paris I, the normal fibrinogen architecture of six covalently linked chains per molecule is preserved [21].
  • Variants Paris and Paris 2 were identified as Arg 47 Cys mutations, and Clichy, Clichy 2, and Franconville were found to be Pro 41 Leu mutations [28].
  • SETTING: University hospital in Paris, France. PATIENTS: 10 consecutive patients concomitantly receiving methylprednisolone and oral anticoagulants (fluindione and acenocoumarol) and 5 consecutive controls receiving methylprednisolone alone [29].
  • The CNBr peptide from the Paris I gamma chain was identical to that of the normal gamma chain in its retention time on HPLC, its amino acid composition, and its sequence [30].

Other interactions of TBC1D2

  • We used Southern blots to analyze a restriction fragment length polymorphism detected by a probe for prepro-OT-NPI to determine the linkage relationships for the ARVP/OT loci using samples from the Centre d'Etude du Polymorphisme Humain (Paris, France) collection of families [31].
  • In this study, we analysed 13 samples of the French population--4147 non-related individuals living in Bordeaux, Brest, Caen, Dijon, Limoges, Lyon, Marseille, Nancy, Paris, Poitiers, Rennes, Strasbourg and Toulouse--all of whom were typed for 10 alleles of the HLA-A locus and 16 alleles of the HLA-B locus [32].
  • The effect of Paris PM(2.5) organic and aqueous fractions in AR expression and secretion was investigated on the bronchial epithelial cell line 16HBE and normal human nasal epithelial (NHNE) cells [33].
  • In conclusion, in bronchial epithelial cells, Paris PM2.5 increased mRNA and protein expression of GRO-alpha and AR involved in the chemoattraction process and bronchial remodeling, respectively [34].
  • Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study [35].

Analytical, diagnostic and therapeutic context of TBC1D2

  • Western blot analysis confirmed the expression of the PARIS-1 protein in these cells [1].
  • Using Northern blot hybridization assay, we detected a single species of approximately 3.3 kb PARIS-1 mRNA that is differentially expressed in prostate normal and cancer cells [1].
  • A sensitive and specific radioimmunoassay has been developed for the identification or quantification of the human hemoglobin variants S, C, D-Los Angeles, E, G Philadelphia, Russ, O Arab, Beograd, J Paris I, G San Jose, Q Iran, Korle Bu, and F Malta I [36].
  • For patients in the control groups in Paris and Palo Alto, the total treatment costs were, on average, $9926 and $5928 [37].
  • For patients treated by hepatic arterial infusion in Paris, the hepatic arterial infusion pump, initial hospitalization, and the entire process (including follow-up and complications) cost, on average, $8400, $15172, and $29562, respectively; in Palo Alto, these costs were $4700, $13784, and $25 208, respectively [37].


  1. Serological cloning of PARIS-1: a new TBC domain-containing, immunogenic tumor antigen from a prostate cancer cell line. Zhou, Y., Toth, M., Hamman, M.S., Monahan, S.J., Lodge, P.A., Boynton, A.L., Salgaller, M.L. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  2. A comparison of standard cardiopulmonary resuscitation and active compression-decompression resuscitation for out-of-hospital cardiac arrest. French Active Compression-Decompression Cardiopulmonary Resuscitation Study Group. Plaisance, P., Lurie, K.G., Vicaut, E., Adnet, F., Petit, J.L., Epain, D., Ecollan, P., Gruat, R., Cavagna, P., Biens, J., Payen, D. N. Engl. J. Med. (1999) [Pubmed]
  3. Paris AIDS retrovirus conference. Coles, P. Nature (1988) [Pubmed]
  4. AIDS in a medical intensive care unit: immediate prognosis and long-term survival. Lazard, T., Retel, O., Guidet, B., Maury, E., Valleron, A.J., Offenstadt, G. JAMA (1996) [Pubmed]
  5. Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia. Koopman, J., Haverkate, F., Grimbergen, J., Lord, S.T., Mosesson, M.W., DiOrio, J.P., Siebenlist, K.S., Legrand, C., Soria, J., Soria, C. J. Clin. Invest. (1993) [Pubmed]
  6. Creutzfeldt-Jakob disease in France: I. Retrospective study of the Paris area during the ten-year period 1968-1977. Brown, P., Cathala, F. Ann. Neurol. (1979) [Pubmed]
  7. Charcot at the Salpêtrière: ambulatory automatisms. Goetz, C.G. Neurology (1987) [Pubmed]
  8. Sheltered accommodation in the community mental health service in the 13th Arrondissement of Paris. Chick, J. The British journal of psychiatry : the journal of mental science. (1979) [Pubmed]
  9. Taste responsiveness in anorexia nervosa. Simon, Y., Bellisle, F., Monneuse, M.O., Samuel-Lajeunesse, B., Drewnowski, A. The British journal of psychiatry : the journal of mental science. (1993) [Pubmed]
  10. Peptic ulcer in childhood. Psychological factors. Christodoulou, G.N., Gargoulas, A., Papaloukas, A., Marinopoulou, A., Rabavilas, A.D. Psychotherapy and psychosomatics. (1979) [Pubmed]
  11. Evidence in the Legionella pneumophila genome for exploitation of host cell functions and high genome plasticity. Cazalet, C., Rusniok, C., Brüggemann, H., Zidane, N., Magnier, A., Ma, L., Tichit, M., Jarraud, S., Bouchier, C., Vandenesch, F., Kunst, F., Etienne, J., Glaser, P., Buchrieser, C. Nat. Genet. (2004) [Pubmed]
  12. Decline in semen quality among fertile men in Paris during the past 20 years. Auger, J., Kunstmann, J.M., Czyglik, F., Jouannet, P. N. Engl. J. Med. (1995) [Pubmed]
  13. Claude Bernard: primer of the second biomedical revolution. Conti, F. Nat. Rev. Mol. Cell Biol. (2001) [Pubmed]
  14. A clinical decision support system for prevention of venous thromboembolism: effect on physician behavior. Durieux, P., Nizard, R., Ravaud, P., Mounier, N., Lepage, E. JAMA (2000) [Pubmed]
  15. International comparison of prevalence of resistance to antibiotics. O'Brien, T.F., Acar, J.F., Medeiros, A.A., Norton, R.A., Goldstein, F., Kent, R.L. JAMA (1978) [Pubmed]
  16. Identification of a functionally important sequence in the cytoplasmic tail of integrin beta 3 by using cell-permeable peptide analogs. Liu, K.Y., Timmons, S., Lin, Y.Z., Hawiger, J. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  17. Recombinant urate oxidase for the prophylaxis or treatment of hyperuricemia in patients With leukemia or lymphoma. Pui, C.H., Mahmoud, H.H., Wiley, J.M., Woods, G.M., Leverger, G., Camitta, B., Hastings, C., Blaney, S.M., Relling, M.V., Reaman, G.H. J. Clin. Oncol. (2001) [Pubmed]
  18. Hypertriglyceridaemia as a risk factor of coronary heart disease mortality in subjects with impaired glucose tolerance or diabetes. Results from the 11-year follow-up of the Paris Prospective Study. Fontbonne, A., Eschwège, E., Cambien, F., Richard, J.L., Ducimetière, P., Thibult, N., Warnet, J.M., Claude, J.R., Rosselin, G.E. Diabetologia (1989) [Pubmed]
  19. Persantine-Aspirin Reinfarction Study. Part II. Secondary coronary prevention with persantine and aspirin. Klimt, C.R., Knatterud, G.L., Stamler, J., Meier, P. J. Am. Coll. Cardiol. (1986) [Pubmed]
  20. Breast inflammatory gigantomastia in a context of immune-mediated diseases. Touraine, P., Youssef, N., Alyanakian, M.A., Lechat, X., Balleyguier, C., Duflos, C., Dib, A., May, A., Carel, J.C., Laborde, K., Sigal-Zafrani, B., Goffin, V., Eymard, B., Boitard, C., Brousse, N., Kuttenn, F. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  21. Studies on the structural abnormality of fibrinogen Paris I. Mosesson, M.W., Amrani, D.L., Ménaché, D. J. Clin. Invest. (1976) [Pubmed]
  22. Ectopic pregnancy and occupational exposure to antineoplastic drugs. Saurel-Cubizolles, M.J., Job-Spira, N., Estryn-Behar, M. Lancet (1993) [Pubmed]
  23. Direct and reversible inhibitory effect of the tetrapeptide acetyl-N-Ser-Asp-Lys-Pro (Seraspenide) on the growth of human CD34+ subpopulations in response to growth factors. Bonnet, D., Lemoine, F.M., Pontvert-Delucq, S., Baillou, C., Najman, A., Guigon, M. Blood (1993) [Pubmed]
  24. Circulating anti-p53 antibodies in esophageal cancer patients are found predominantly in individuals with p53 core domain mutations in their tumors. von Brevern, M.C., Hollstein, M.C., Cawley, H.M., De Benedetti, V.M., Bennett, W.P., Liang, L., He, A.G., Zhu, S.M., Tursz, T., Janin, N., Trivers, G.E. Cancer Res. (1996) [Pubmed]
  25. Tyrosine kinase-activating growth factors potentiate thrombin- and AIF4- -induced phosphoinositide breakdown in hamster fibroblasts. Evidence for positive cross-talk between the two mitogenic signaling pathways. Paris, S., Chambard, J.C., Pouysségur, J. J. Biol. Chem. (1988) [Pubmed]
  26. Assembly of chimeric connexin-aequorin proteins into functional gap junction channels. Reporting intracellular and plasma membrane calcium environments. Martin, P.E., George, C.H., Castro, C., Kendall, J.M., Capel, J., Campbell, A.K., Revilla, A., Barrio, L.C., Evans, W.H. J. Biol. Chem. (1998) [Pubmed]
  27. Body fat distribution and coronary heart disease mortality in subjects with impaired glucose tolerance or diabetes mellitus: the Paris Prospective Study, 15-year follow-up. Fontbonne, A., Thibult, N., Eschwège, E., Ducimetière, P. Diabetologia (1992) [Pubmed]
  28. Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation. Molho-Sabatier, P., Aiach, M., Gaillard, I., Fiessinger, J.N., Fischer, A.M., Chadeuf, G., Clauser, E. J. Clin. Invest. (1989) [Pubmed]
  29. Potentiation of vitamin K antagonists by high-dose intravenous methylprednisolone. Costedoat-Chalumeau, N., Amoura, Z., Aymard, G., Sevin, O., Wechsler, B., Cacoub, P., Du, L.T., Diquet, B., Ankri, A., Piette, J.C. Ann. Intern. Med. (2000) [Pubmed]
  30. ADP-induced platelet aggregation depends on the conformation or availability of the terminal gamma chain sequence of fibrinogen. Study of the reactivity of fibrinogen Paris 1. Denninger, M.H., Jandrot-Perrus, M., Elion, J., Bertrand, O., Homandberg, G.A., Mosesson, M.W., Guillin, M.C. Blood (1987) [Pubmed]
  31. Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Summar, M.L., Phillips, J.A., Battey, J., Castiglione, C.M., Kidd, K.K., Maness, K.J., Weiffenbach, B., Gravius, T.C. Mol. Endocrinol. (1990) [Pubmed]
  32. Distribution of HLA-A,B alleles in 13 panels of blood donors in France. Prevost, P., Busson, M., Marcelli-Barge, A. Tissue Antigens (1984) [Pubmed]
  33. Effects of PM(2.5) components in the release of amphiregulin by human airway epithelial cells. Rumelhard, M., Ramgolam, K., Auger, F., Dazy, A.C., Blanchet, S., Marano, F., Baeza-Squiban, A. Toxicol. Lett. (2007) [Pubmed]
  34. Fine urban atmospheric particulate matter modulates inflammatory gene and protein expression in human bronchial epithelial cells. Baulig, A., Blanchet, S., Rumelhard, M., Lacroix, G., Marano, F., Baeza-Squiban, A. Front. Biosci. (2007) [Pubmed]
  35. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Råstam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A., Leboyer, M., van Malldergerme, L. Hum. Mol. Genet. (1999) [Pubmed]
  36. Radioimmunoassay for abnormal hemoglobins. Garver, F.A., Baker, M.B., Jones, C.S., Gravely, M., Altay, G., Huisman, T.H. Science (1977) [Pubmed]
  37. Economic implications of hepatic arterial infusion chemotherapy in treatment of nonresectable colorectal liver metastases. Meta-Analysis Group in Cancer. Durand-Zaleski, I., Roche, B., Buyse, M., Carlson, R., O'Connell, M.J., Rougier, P., Chang, A.E., Sondak, V.K., Kemeny, M.M., Allen-Mersh, T.G., Fagniez, P.L., Le Bourgeois, J.P., Piedbois, P. J. Natl. Cancer Inst. (1997) [Pubmed]
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