G2Cdb::Gene report

Gene id
G00002245
Gene symbol
AP3M2 (HGNC)
Species
Homo sapiens
Description
adaptor-related protein complex 3, mu 2 subunit
Orthologue
G00000996 (Mus musculus)

Databases (6)

Gene
ENSG00000070718 (Ensembl human gene)
10947 (Entrez Gene)
1092 (G2Cdb plasticity & disease)
AP3M2 (GeneCards)
Marker Symbol
HGNC:570 (HGNC)
Protein Sequence
P53677 (UniProt)

Synonyms (2)

  • AP47B
  • CLA20

Literature (8)

Pubmed - other

  • Association analysis between schizophrenia and the AP-3 complex genes.

    Hashimoto R, Ohi K, Okada T, Yasuda Y, Yamamori H, Hori H, Hikita T, Taya S, Saitoh O, Kosuga A, Tatsumi M, Kamijima K, Kaibuchi K, Takeda M and Kunugi H

    The Osaka-Hamamatsu Joint Research Center for Child Mental Development, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan. hashimor@psy.med.osaka-u.ac.jp

    A susceptibility gene for schizophrenia, dysbindin, is a component of BLOC-1, which interacts with the adaptor protein (AP)-3 complex. As a direct interaction between dysbindin and AP-3 complex was reported, we examined a possible association between 16 SNPs in the AP3 complex genes and schizophrenia using 432 cases and 656 controls. Nominal association between rs6688 in the AP3M1 gene and schizophrenia (chi(2)=6.33, P=0.012, odds ratio=0.80) was no longer positive after correction for multiple testing (corrected P=0.192). The present results suggest that AP3 complex genes might not play a major role in the pathogenesis of schizophrenia in this population.

    Neuroscience research 2009;65;1;113-5

  • Mutation screening of AP3M2 in Japanese epilepsy patients.

    Huang MC, Okada M, Nakatsu F, Oguni H, Ito M, Morita K, Nagafuji H, Hirose S, Sakaki Y, Kaneko S, Ohno H and Kojima T

    Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.

    Evidence that some types of epilepsies show strong genetic predisposition has been well documented. AP3M2 is considered to be an epileptogenic gene because AP3M2 knockout mice exhibit symptoms of spontaneous epileptic seizures. In order to investigate whether the AP3M2 gene causes susceptibility to epilepsy, we performed mutation screening of the genomic DNA of 190 patients with six epilepsy types; this screening involved all the 9 exons and the relevant exon-intron boundaries of AP3M2. Although neither missense nor nonsense mutations were detected, we identified 21 sequence variations, of which 16 variations were novel. Of the 21 variations, 11 were detected in 5' and 3' UTRs, while the remaining variations were detected in introns. Although the present study failed to identify the possible AP3M2 mutations that may cause epilepsy, our results suggest that some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission.

    Brain & development 2007;29;8;462-7

  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

    Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J and MGC Project Team

    The National Institutes of Health's Mammalian Gene Collection (MGC) project was designed to generate and sequence a publicly accessible cDNA resource containing a complete open reading frame (ORF) for every human and mouse gene. The project initially used a random strategy to select clones from a large number of cDNA libraries from diverse tissues. Candidate clones were chosen based on 5'-EST sequences, and then fully sequenced to high accuracy and analyzed by algorithms developed for this project. Currently, more than 11,000 human and 10,000 mouse genes are represented in MGC by at least one clone with a full ORF. The random selection approach is now reaching a saturation point, and a transition to protocols targeted at the missing transcripts is now required to complete the mouse and human collections. Comparison of the sequence of the MGC clones to reference genome sequences reveals that most cDNA clones are of very high sequence quality, although it is likely that some cDNAs may carry missense variants as a consequence of experimental artifact, such as PCR, cloning, or reverse transcriptase errors. Recently, a rat cDNA component was added to the project, and ongoing frog (Xenopus) and zebrafish (Danio) cDNA projects were expanded to take advantage of the high-throughput MGC pipeline.

    Funded by: PHS HHS: N01-C0-12400

    Genome research 2004;14;10B;2121-7

  • Interaction of endocytic signals from the HIV-1 envelope glycoprotein complex with members of the adaptor medium chain family.

    Ohno H, Aguilar RC, Fournier MC, Hennecke S, Cosson P and Bonifacino JS

    Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

    The envelope glycoprotein (Env) complex of HIV-1 undergoes rapid internalization from the plasma membrane of human cells by virtue of a tyrosine-based endocytic signal (RQGYSPL, residues 704-710) in the cytosolic tail of the protein (J. F. Rowell et al., J. Immunol. 155, 473-488, 1995). Here we demonstrate that this tyrosine-based signal interacts with the mu 2 (medium) chain of the AP-2 clathrin-associated adaptor, a protein complex involved in endocytosis of cell surface receptors. The same signal is also capable of interacting with two other members of the adaptor medium chain family, mu 1 and mu 3A, which are components of the AP-1 and AP-3 adaptor complexes, respectively. Interactions with mu 1 and mu 3A might be responsible for the targeting of the internalized envelope glycoprotein to lysosomes or to the basolateral plasma membrane of polarized epithelial cells. A second potential tyrosine-based signal (LFSYHRL, residues 760-766) also interacts with mu 1, mu 2, and mu 3A, although it is less important for internalization in vivo probably due to its position within the cytosolic tail. Overexpression of chimeric proteins having the HIV-1 Env cytosolic tail increases expression of the transferrin receptor on the cell surface, probably due to saturation of the cellular pool of mu 2 by the overexpressed proteins. These observations suggest that HIV-1 Env utilizes the protein sorting machinery of the host cells for internalization and sorting at various steps of the endocytic and biosynthetic pathways.

    Virology 1997;238;2;305-15

  • Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification.

    Koyama K, Sudo K and Nakamura Y

    Department of Biochemistry, Cancer Institute, Tokyo, Japan.

    Exon-amplification experiments were undertaken to isolate potentially transcribable sequences from cosmid clones that previously had been mapped to subchromosomal bands of human chromosome 8 by fluorescence in situ hybridization. From 253 cosmids subjected to this procedure so far, we isolated 169 fragments and confirmed that they had been derived from the original cosmid clones. Among them, 38 revealed homology to repetitive DNA sequences such as Alu and L1 elements. The other 131 were unique sequences, but of these only 115 contained discernible open reading frames. Among these 115 sequences, 15 were identical to parts of six known genes listed in the public database. On the basis of information derived from mapping the original cosmid clones, we were able to localize two of these known genes, zinc finger protein 7 and heat shock transcription factor 1, to 8q24.3. Furthermore, we have proven that some of these clones are parts of the transcribed products by an exon connection method or by isolation of a novel cDNA that is homologous to murine clathrin-associated protein. The expressed-sequence tags isolated here will be useful resources for a transcriptional map of chromosome 8 and for isolation of new genes.

    Genomics 1995;26;2;245-53

  • Two rat homologs of clathrin-associated adaptor proteins.

    Pevsner J, Volknandt W, Wong BR and Scheller RH

    Department of Molecular and Cellular Physiology, Howard Hughes Medical Institute, Beckman Center, Stanford University Medical School, CA 94305.

    A cDNA clone predicted to encode a 46,757-Da protein was isolated from a library derived from the electric lobe of the ray Discopyge ommata. Two rat homologs, p47A and p47B, were subsequently isolated. These three proteins share approx. 80% amino acid (aa) identity to each other and have 27-30% aa identity to rat AP50 and mouse AP47, the medium-chain subunits of adaptor complexes associated with clathrin-coated vesicles. These complexes are involved in receptor-mediated pathways of intracellular transport. Rat p47A mRNA is expressed in all tissues examined, including brain, heart, kidney, liver, lung, muscle and spinal cord. Rat p47B mRNA is detected exclusively in brain and spinal cord, and may participate in nervous system-specific functions such as biogenesis or recycling of synaptic vesicles.

    Gene 1994;146;2;279-83

  • Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.

    Dawson SJ and White LA

    Department of Microbiology, Southampton General Hospital, U.K.

    A patient with Haemophilus aphrophilus endocarditis was successfully treated with ciprofloxacin. The response to treatment with cefotaxime and netilmicin for 12 days was poor but was satisfactory to a 6 weeks' course of ciprofloxacin.

    The Journal of infection 1992;24;3;317-20

Gene lists (4)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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