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Gene Review

DGCR2  -  DiGeorge syndrome critical region gene 2

Homo sapiens

Synonyms: DGS-C, IDD, Integral membrane protein DGCR2/IDD, KIAA0163, LAN, ...
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Disease relevance of DGCR2

  • High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2 [1].
  • Human neuroblastoma cells, LAN, were used to study the phosphorylation and dephosphorylation of tau proteins [2].
  • However, there was a significant correlation between acute mountain sickness (AMS) symptoms and central RPE (r = 0.875) across the five exercise intensities in LAN [3].
  • In general, cardiorespiratory and plasma lactate values were similar in LAN and MAN at their residence altitudes and during hypobaric hypoxia [3].
  • Slow release lanreotide (SR-LAN) therapy for 3 mo controlled clinical and biochemical signs of carcinoid tumor and caused a clear-cut reduction in the diameter of two liver metastases and disappearance of another lesion, with further reduction after 6 and 18 mo [4].

High impact information on DGCR2

  • The proximity of IDD to the balanced translocation breakpoint and its position within the shortest region of deletion overlap indicate that this gene may have a role, along with other genes, in the CATCH22 haploinsufficiency syndromes [5].
  • Hemizygosity of the proximal region, designated DGCR2, can cause cardiac defect and T cell deficiency [6].
  • In vitro study of cellular incorporation into human neuroblastoma lines (SK-N-SH, SK-N-MC, LAN I) showed that only the SK-N-SH line retained iodine-125 m-IBG (125I-m-IBG) significantly [7].
  • The pattern of association and linkage disequilibrium (LD) in the second region suggest that DGCR2, which encodes a putative adhesion receptor protein, is the susceptibility gene [8].
  • Interestingly, the expression of DGCR2 was also found to be elevated in the dorsolateral prefrontal cortex of schizophrenic patients relative to matched controls [8].

Chemical compound and disease context of DGCR2


Biological context of DGCR2

  • We constructed a deletion map of partial monosomy 10p patients and narrowed the critical region DGCR2 to about 300 kb [10].
  • In a gene expression analysis the risk allele of a coding SNP associated with schizophrenia was found to be associated with a reduced expression of DGCR2 [8].
  • To characterize SEZ-12, isolation of full-length cDNA and nucleotide sequence analysis were performed [11].
  • The deduced amino acid sequence of SEZ-12 revealed that it encodes membrane-bound C-type lectin and has a significant homology to that of human cDNA, DGCR2 and IDD, which were cloned from a balanced translocation breakpoint associated with the DiGeorge syndrome [11].
  • HAN and LAN migrant groups to a nonnative environment were classified as: multigeneration migrants, born and raised in a nonnative environment; child migrants who migrated to the nonnative environment during the period of growth and development (0-18 years old); and adult migrants who migrated after 18 years of age [12].

Anatomical context of DGCR2

  • SEZ-12 is one of the seizure-related cDNAs which was isolated by differential hybridization from primary cultured neurons from the mouse cerebral cortex with or without pentylenetetrazol (PTZ) [11].
  • The studies were performed in parallel in BON and in a neuroblastoma cell line LAN, with the cells grown as monolayers or as multicellular aggregates [13].
  • The organization of sensory afferents in the antennular nerve (AN) of the spiny lobster and the central arborization of the afferents in the lateral and medial antennular neuropils (LAN, MAN) were analyzed by backfilling the AN with biocytin [14].
  • Moreover, LAN are asymmetrically distributed also along the antero-posterior axis of the oocyte, and occur preferentially in the anterior pole periplasm [15].

Associations of DGCR2 with chemical compounds

  • SEZ-12 expression is transiently down-regulated in the mouse brain by injection of PTZ [11].
  • Two X-ray data sets for a complex of human aldose reductase (h-AR) with the inhibitor IDD 594 and the cofactor NADP(+) were collected from two different parts of the same crystal to a resolution of 0.81 A at 15 and 60 K using cold helium gas as cryogen [16].
  • Unlike histidinoalanine, this crosslink appears to accumulate in relatively high concentrations in water-soluble lens proteins; its concentration was 9-fold higher than histidinoalanine from the same proteins (0.26+/-0.06 HAL vs 2.34+/-0.76 LAN nmol/mg protein; p<0.0004) [17].
  • These complications, which constitute an hindrance to the development of the affected population, are grouped under the general heading of Iodine Deficiency Disorders, IDD (6) [18].
  • The tool has been developed on the top of DBIII Plus language utilizing the Clipper Compiler networking features for the integration in a LAN environment [19].

Other interactions of DGCR2

  • While GATA3 was identified as the disease causing gene for HDR syndrome, no genes have been identified thus far for the symptoms associated with DGCR2 haploinsufficiency [10].

Analytical, diagnostic and therapeutic context of DGCR2

  • For different image (CR, CT, MR) and network types (LAN and ISDN) the File Transfer, Audio and Video Conference, and Co-operative Work properties were examined and compared with the literature referring to standard complete packages and dedicated teleradiology systems [20].
  • Eight-hundred forty-nine patients with symptomatic nonerosive GERD from two clinical trials of lansoprazole 15 mg daily (LAN 15) and lansoprazole 30 mg daily (LAN 30) vs ranitidine 150 mg twice a day (RAN 150) completed a health-related quality-of-life (HRQoL) questionnaire at baseline and four and eight weeks after treatment [21].
  • 131I m-IBG was injected into nude mice bearing xenografts of the human neuroblastoma line LAN 5 in several sites [22].
  • Machines which generate images (imagers: DSA, ultrasound, PET, MRI, SPECT and CT) were connected to the campus LAN [23].
  • This paper describes the development and clinical implementation of the SincroDiab--a synchronized diabetes register for the routine clinical practice in a LAN and for design of long-term trials and epidemiological studies based on the GEHR (Good European Health Record) architecture [24].


  1. High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2. Iida, A., Ohnishi, Y., Ozaki, K., Ariji, Y., Nakamura, Y., Tanaka, T. J. Hum. Genet. (2001) [Pubmed]
  2. Reversible heat stress-related loss of phosphorylated Alzheimer-type epitopes in Tau proteins of human neuroblastoma cells. Chiang, M.F., Liu, W.K., Yen, S.H. J. Neurosci. (1993) [Pubmed]
  3. Perceived exertion during hypobaric hypoxia in low- and moderate-altitude natives. Maresh, C.M., Deschenes, M.R., Seip, R.L., Armstrong, L.E., Robertson, K.L., Noble, B.J. Medicine and science in sports and exercise. (1993) [Pubmed]
  4. Regression of liver metastases of occult carcinoid tumor with slow release lanreotide therapy. Bondanelli, M., Ambrosio, M.R., Zatelli, M.C., Cavazzini, L., Al Jandali Rifa'y, L., degli Uberti, E.C. World J. Gastroenterol. (2005) [Pubmed]
  5. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Wadey, R., Daw, S., Taylor, C., Atif, U., Kamath, S., Halford, S., O'Donnell, H., Wilson, D., Goodship, J., Burn, J. Hum. Mol. Genet. (1995) [Pubmed]
  6. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Lichtner, P., König, R., Hasegawa, T., Van Esch, H., Meitinger, T., Schuffenhauer, S. J. Med. Genet. (2000) [Pubmed]
  7. In vitro therapeutic targeting of neuroblastomas using 125I-labelled meta-iodobenzylguanidine. Guerreau, D., Thedrez, P., Fritsch, P., Saccavini, J.C., Metivier, H., Nolibe, D., Masse, R., Coornaert, S., Chatal, J.F. Int. J. Cancer (1990) [Pubmed]
  8. A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia. Shifman, S., Levit, A., Chen, M.L., Chen, C.H., Bronstein, M., Weizman, A., Yakir, B., Navon, R., Darvasi, A. Hum. Genet. (2006) [Pubmed]
  9. Uptake of 14C- and 11C-labeled glutamate, glutamine and aspartate in vitro and in vivo. Wu, F., Orlefors, H., Bergström, M., Antoni, G., Omura, H., Eriksson, B., Watanabe, Y., Långström, B. Anticancer Res. (2000) [Pubmed]
  10. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. Lichtner, P., Attié-Bitach, T., Schuffenhauer, S., Henwood, J., Bouvagnet, P., Scambler, P.J., Meitinger, T., Vekemans, M. J. Mol. Med. (2002) [Pubmed]
  11. Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein. Kajiwara, K., Nagasawa, H., Shimizu-Nishikawa, K., Ookura, T., Kimura, M., Sugaya, E. Biochem. Biophys. Res. Commun. (1996) [Pubmed]
  12. Effect of developmental and ancestral high-altitude exposure on VO(2)peak of Andean and European/North American natives. Brutsaert, T.D., Spielvogel, H., Soria, R., Caceres, E., Buzenet, G., Haas, J.D. Am. J. Phys. Anthropol. (1999) [Pubmed]
  13. A mechanism behind the antitumour effect of 6-diazo-5-oxo-L-norleucine (DON): disruption of mitochondria. Wu, F., Lukinius, A., Bergström, M., Eriksson, B., Watanabe, Y., Långström, B. Eur. J. Cancer (1999) [Pubmed]
  14. Antennular projections to the midbrain of the spiny lobster. I. Sensory innervation of the lateral and medial antennular neuropils. Schmidt, M., Van Ekeris, L., Ache, B.W. J. Comp. Neurol. (1992) [Pubmed]
  15. Accessory nuclei in the oocytes of the cockoo wasp, Chrysis ignita (Hymenoptera: Aculeata). Szklarzewicz, T., Biliński, S.M., Klag, J., Jabłońska, A. Folia Histochem. Cytobiol. (1993) [Pubmed]
  16. Ultrahigh-resolution study of protein atomic displacement parameters at cryotemperatures obtained with a helium cryostat. Petrova, T., Ginell, S., Mitschler, A., Hazemann, I., Schneider, T., Cousido, A., Lunin, V.Y., Joachimiak, A., Podjarny, A. Acta Crystallogr. D Biol. Crystallogr. (2006) [Pubmed]
  17. Dehydroalanine crosslinks in human lens. Linetsky, M., Hill, J.M., LeGrand, R.D., Hu, F. Exp. Eye Res. (2004) [Pubmed]
  18. Iodine deficiency in Europe. Delange, F. Cas. Lek. Cesk. (1995) [Pubmed]
  19. PRIST: a fourth-generation tool for medical information systems. Cristiani, P., Larizza, C. Int. J. Biomed. Comput. (1990) [Pubmed]
  20. Evaluation of a "no-cost" Internet technology-based system for teleradiology and co-operative work. Bergh, B., Schlaefke, A., Pietsch, M., García, I., Vogl, T.J. European radiology. (2003) [Pubmed]
  21. Health-Related quality-of-life and quality-days incrementally gained in symptomatic nonerosive GERD patients treated with lansoprazole or ranitidine. Mathias, S.D., Colwell, H.H., Miller, D.P., Pasta, D.J., Henning, J.M., Ofman, J.J. Dig. Dis. Sci. (2001) [Pubmed]
  22. Distribution of m-IBG in nude mice bearing LAN-5 neuroblastoma xenografts and in vitro cell culture. Van der Wall, H., Durbidge, M., White, L., Taylor, D., Murray, I.P. In Vivo (1991) [Pubmed]
  23. Research-oriented image registry for multimodal image integration. Tanaka, M., Sadato, N., Ishimori, Y., Yonekura, Y., Yamashita, Y., Komuro, H., Hayahsi, N., Ishii, Y. Medical informatics = Médecine et informatique. (1998) [Pubmed]
  24. A networked electronic patient record system for diabetes. Pruna, S., Stanciu, E., Macarie, A., Pruna, A., Ionescu-Tirgoviste, C. Studies in health technology and informatics. (2002) [Pubmed]
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