13q12.12 copy number variation (WP5406)

Homo sapiens

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Copy number variations in the region 13q12.12 (exact position: chr13:23555358-24884622 (GRCh37), numbers from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature cited there) are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al. 2014, 10.1016/j.biopsych.2013.07.022) and with the presence of SACS it harbors a gene known for causing Spastic ataxia (MIM # 270550).

Authors

Friederike Ehrhart , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
GDP Metabolite chebi:17552
LINC00362 GeneProduct ensembl:ENSG00000229483
LINC00327 GeneProduct ensembl:ENSG00000232977
LINC00352 GeneProduct ensembl:ENSG00000227893
MIR2276 GeneProduct ensembl:ENSG00000252695
SACS GeneProduct ensembl:ENSG00000151835
RTN4R GeneProduct ensembl:ENSG00000040608
MIPEP GeneProduct ensembl:ENSG00000027001
ATXN1 GeneProduct ensembl:ENSG00000124788
MAPK8 GeneProduct ensembl:ENSG00000107643
TRAF3 GeneProduct ensembl:ENSG00000131323
RAC1 GeneProduct ensembl:ENSG00000136238
SPATA13 GeneProduct ensembl:ENSG00000182957 ASEF2
CDC42 GeneProduct ensembl:ENSG00000070831
SGCA GeneProduct ensembl:ENSG00000108823
C1QTNF9B GeneProduct ensembl:ENSG00000205863
TNFRSF19 GeneProduct ensembl:ENSG00000127863 TROY, TAJ
SSPN GeneProduct ensembl:ENSG00000123096
DAG1 GeneProduct ensembl:ENSG00000173402
RTN4 GeneProduct ensembl:ENSG00000115310
SGCD GeneProduct ensembl:ENSG00000170624
TRAF2 GeneProduct ensembl:ENSG00000127191
DMD GeneProduct ensembl:ENSG00000198947
RHOA GeneProduct ensembl:ENSG00000067560
MAG GeneProduct ensembl:ENSG00000105695
TRAF1 GeneProduct ensembl:ENSG00000056558
ADIPOQ GeneProduct ensembl:ENSG00000181092
SNTB1 GeneProduct ensembl:ENSG00000172164
C1QTNF9 GeneProduct ensembl:ENSG00000240654
LINGO1 GeneProduct ensembl:ENSG00000169783
MAPK9 GeneProduct ensembl:ENSG00000050748
SGCB GeneProduct ensembl:ENSG00000163069
FLNC GeneProduct ensembl:ENSG00000128591
TRAF5 GeneProduct ensembl:ENSG00000082512
SGCG GeneProduct ensembl:ENSG00000102683
DTNA GeneProduct ensembl:ENSG00000134769
SNTA1 GeneProduct ensembl:ENSG00000101400

References

  1. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, et al. Hum Mol Genet. 1996 Dec;5(12):1963–9. PubMed Europe PMC Scholia
  2. Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). Chew A, Buck EA, Peretz S, Sirugo G, Rinaldo P, Isaya G. Genomics. 1997 Mar 15;40(3):493–6. PubMed Europe PMC Scholia
  3. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, et al. J Cell Biol. 2000 Jan 10;148(1):115–26. PubMed Europe PMC Scholia
  4. Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, et al. Neuromuscul Disord. 2000 Feb;10(2):100–7. PubMed Europe PMC Scholia
  5. TAJ, a novel member of the tumor necrosis factor receptor family, activates the c-Jun N-terminal kinase pathway and mediates caspase-independent cell death. Eby MT, Jasmin A, Kumar A, Sharma K, Chaudhary PM. J Biol Chem. 2000 May 19;275(20):15336–42. PubMed Europe PMC Scholia
  6. A TNF receptor family member, TROY, is a coreceptor with Nogo receptor in mediating the inhibitory activity of myelin inhibitors. Park JB, Yiu G, Kaneko S, Wang J, Chang J, He XL, et al. Neuron. 2005 Feb 3;45(3):345–51. PubMed Europe PMC Scholia
  7. Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element. Hamann MJ, Lubking CM, Luchini DN, Billadeau DD. Mol Cell Biol. 2007 Feb;27(4):1380–93. PubMed Europe PMC Scholia
  8. Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. Kawasaki Y, Sagara M, Shibata Y, Shirouzu M, Yokoyama S, Akiyama T. Oncogene. 2007 Dec 6;26(55):7620–267. PubMed Europe PMC Scholia
  9. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Parfitt DA, Michael GJ, Vermeulen EGM, Prodromou NV, Webb TR, Gallo JM, et al. Hum Mol Genet. 2009 May 1;18(9):1556–65. PubMed Europe PMC Scholia
  10. CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members. Peterson JM, Wei Z, Wong GW. Biochem Biophys Res Commun. 2009 Oct 16;388(2):360–5. PubMed Europe PMC Scholia