Gene Symbol: MCTP2
Description: multiple C2 and transmembrane domain containing 2
Alias: multiple C2 and transmembrane domain-containing protein 2, multiple C2 domains, transmembrane 2, multiple C2-domains with two transmembrane regions 2 1
Species: human
Products:     MCTP2

Top Publications

  1. van de Vegte Y, Tegegne B, Verweij N, Snieder H, van der Harst P. Genetics and the heart rate response to exercise. Cell Mol Life Sci. 2019;: pubmed publisher
    ..PAX2, SOX5, and CAV2); (2) prolongation of neuronal life span (SYT10); (3) cardiac development (RNF220 and MCTP2); (4) cardiac rhythm (SCN10A and RGS6)...
  2. Joshi A, Nebenfuehr B, Choudhary V, Satpute Krishnan P, Levine T, Golden A, et al. Lipid droplet and peroxisome biogenesis occur at the same ER subdomains. Nat Commun. 2018;9:2940 pubmed publisher
    ..We find that in higher eukaryotes multiple C2 domain containing transmembrane protein (MCTP2) is similar to Pex30: it contains an RHD and resides in ER domains where most nascent LD biogenesis occurs and ..
  3. Tanskanen T, Gylfe A, Katainen R, Taipale M, Renkonen Sinisalo L, Järvinen H, et al. Systematic search for rare variants in Finnish early-onset colorectal cancer patients. Cancer Genet. 2015;208:35-40 pubmed publisher
    ..Five genes with homozygous variants in early-onset CRC cases were found (MCTP2, ARHGAP12, ATM, DONSON, and ROS1), including one gene (MCTP2) with a homozygous splice site variant...
  4. Witten A, Bolbrinker J, Barysenka A, Huber M, Rühle F, Nowak Gottl U, et al. Targeted resequencing of a locus for heparin-induced thrombocytopenia on chromosome 5 identified in a genome-wide association study. J Mol Med (Berl). 2018;96:765-775 pubmed publisher
    ..6 × 10-2) and the multiple C2 and transmembrane domain containing 2 (MCTP2, P = 4.5 × 10-2)...
  5. Wales S, Hashemi S, Blais A, McDermott J. Global MEF2 target gene analysis in cardiac and skeletal muscle reveals novel regulation of DUSP6 by p38MAPK-MEF2 signaling. Nucleic Acids Res. 2014;42:11349-62 pubmed publisher
    ..Several up-regulated (Tprg, Mctp2, Kitl, Prrx1, Dusp6) and down-regulated (Atp1a2, Hspb7, Tmem182, Sorbs2, Lmod3) MEF2A target genes were chosen for ..
  6. Mell B, Abdul Majeed S, Kumarasamy S, Waghulde H, Pillai R, Nie Y, et al. Multiple blood pressure loci with opposing blood pressure effects on rat chromosome 1 in a homologous region linked to hypertension on human chromosome 15. Hypertens Res. 2015;38:61-7 pubmed publisher
    ..12 and 135.76 Mb, spanning 1.64 Mb, containing two protein-coding genes, Mctp2 and Rgma, and a predicted miRNA. There were four synonymous variants within Mctp2...
  7. Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017;136:921-939 pubmed publisher
    ..instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases...
  8. Verma R, Holmans P, Knowles J, Grover D, Evgrafov O, Crowe R, et al. Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol Psychiatry. 2008;63:1185-9 pubmed publisher
    ..showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE. In NTRK3, five SNPs had nominally significant p values (.035-.001)...
  9. Djurovic S, Le Hellard S, Kähler A, Jonsson E, Agartz I, Steen V, et al. Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Res. 2009;168:256-8 pubmed publisher
    The MCTP2 gene is involved in intercellular signal transduction and synapse function. We genotyped 37 tagging SNPs across the MCTP2 gene to study a possible association with schizophrenia in three independent Scandinavian samples...

More Information


  1. Lalani S, Ware S, Wang X, Zapata G, Tian Q, Franco L, et al. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013;22:4339-48 pubmed publisher
    ..This interval contains an evolutionary conserved, protein-coding gene, MCTP2 (multiple C2-domains with two transmembrane regions 2)...
  2. Jiang J, Fridley B, Feng Q, Abo R, Brisbin A, Batzler A, et al. Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system. Front Genet. 2013;4:166 pubmed publisher
    ..In summary, this study identified genes and a microRNA that might contribute to response to mTOR inhibitors. ..
  3. Lee J, Cho M, Hersh C, McDonald M, Crapo J, Bakke P, et al. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. Respir Res. 2014;15:113 pubmed publisher
    ..3 (RPL31P11 and ATF6). This study provides further evidence that genetic variants may contribute to phenotypic heterogeneity of COPD. NCT00608764, NCT00292552. ..
  4. Shin O, Han W, Wang Y, Sudhof T. Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. J Biol Chem. 2005;280:1641-51 pubmed
    ..and Drosophila melanogaster express a single MCTP gene, whereas vertebrates express two MCTP genes (MCTP1 and MCTP2) whose primary transcripts are extensively alternatively spliced...
  5. Daly A, Donaldson P, Bhatnagar P, Shen Y, Pe er I, Floratos A, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet. 2009;41:816-9 pubmed publisher
    ..1, P = 1.4 x 10(-8)). These findings provide new insights into the mechanism of flucloxacillin DILI and have the potential to substantially improve diagnosis of this serious disease. ..
  6. Sandholm N, Salem R, McKnight A, Brennan E, Forsblom C, Isakova T, et al. New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 2012;8:e1002921 pubmed publisher
    ..2 × 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9))...
  7. Dahlström E, Sandholm N. Progress in Defining the Genetic Basis of Diabetic Complications. Curr Diab Rep. 2017;17:80 pubmed publisher
    ..Variants in or near AFF3, RGMA-MCTP2, SP3-CDCA7, GLRA3, CNKSR3, and UMOD have reached genome-wide significance (p value <5 × 10-8) for ..