13q12.12 copy number variation (Homo sapiens)

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3674128, 107241Neurite outgrowthHsp70 chaperonemachinerychr13:23555358JNK pathwayMitochondrial peptidasecleaves proteins to mature size5FLNCSGCBDMDSNTB1MAPK9TNFRSF19ADIPOQCDC42TRAF3MIPEPATXN1RTN4RRHOASGCDMAGApoptosisSGCGRAC1SNTA1SGCATRAF1LINGO1LINC00327SACSTRAF5C1QTNF9BLINC00352Dystrophin glycoprotein complexTRAF2DAG1RTN4MIR2276MAPK8GDPSSPNC1QTNF9DTNASPATA13LINC00362chr13:24884622SGCG32, 92, 9


Description

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).

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Ontology Terms

 

Bibliography

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  1. Parfitt DA, Michael GJ, Vermeulen EG, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP; ''The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.''; Hum Mol Genet, 2009 PubMed Europe PMC Scholia
  2. Hamann MJ, Lubking CM, Luchini DN, Billadeau DD; ''Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element.''; Mol Cell Biol, 2007 PubMed Europe PMC Scholia
  3. Peterson JM, Wei Z, Wong GW; ''CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members.''; Biochem Biophys Res Commun, 2009 PubMed Europe PMC Scholia
  4. Eby MT, Jasmin A, Kumar A, Sharma K, Chaudhary PM; ''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.''; J Biol Chem, 2000 PubMed Europe PMC Scholia
  5. Chew A, Buck EA, Peretz S, Sirugo G, Rinaldo P, Isaya G; ''Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP).''; Genomics, 1997 PubMed Europe PMC Scholia
  6. Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM; ''Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.''; J Cell Biol, 2000 PubMed Europe PMC Scholia
  7. Park JB, Yiu G, Kaneko S, Wang J, Chang J, He XL, Garcia KC, He Z; ''A TNF receptor family member, TROY, is a coreceptor with Nogo receptor in mediating the inhibitory activity of myelin inhibitors.''; Neuron, 2005 PubMed Europe PMC Scholia
  8. Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M; ''The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.''; Hum Mol Genet, 1996 PubMed Europe PMC Scholia
  9. Kawasaki Y, Sagara M, Shibata Y, Shirouzu M, Yokoyama S, Akiyama T; ''Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42.''; Oncogene, 2007 PubMed Europe PMC Scholia
  10. Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG; ''Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.''; Neuromuscul Disord, 2000 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134533view17:02, 22 July 2024EgonwAdded a missing datasource
134423view23:16, 21 July 2024EweitzStandardize case
127152view10:03, 7 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127151view10:03, 7 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127150view10:03, 7 August 2023FehrhartOntology Term : 'disease pathway' added !
127149view10:00, 7 August 2023FehrhartModified description
127148view09:55, 7 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ADIPOQGeneProductENSG00000181092 (Ensembl)
ATXN1GeneProductENSG00000124788 (Ensembl)
ApoptosisPathwayWP254 (WikiPathways)
C1QTNF9BGeneProductENSG00000205863 (Ensembl)
C1QTNF9GeneProductENSG00000240654 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl)
DAG1GeneProductENSG00000173402 (Ensembl)
DMDGeneProductENSG00000198947 (Ensembl)
DTNAGeneProductENSG00000134769 (Ensembl)
Dystrophin glycoprotein complexCPX-2424Complex portal
FLNCGeneProductENSG00000128591 (Ensembl)
GDPMetaboliteCHEBI:17552 (ChEBI)
LINC00327GeneProductENSG00000232977 (Ensembl)
LINC00352GeneProductENSG00000227893 (Ensembl)
LINC00362GeneProductENSG00000229483 (Ensembl)
LINGO1GeneProductENSG00000169783 (Ensembl)
MAGGeneProductENSG00000105695 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl)
MAPK9GeneProductENSG00000050748 (Ensembl)
MIPEPGeneProductENSG00000027001 (Ensembl)
MIR2276GeneProductENSG00000252695 (Ensembl)
RAC1GeneProductENSG00000136238 (Ensembl)
RHOAGeneProductENSG00000067560 (Ensembl)
RTN4GeneProductENSG00000115310 (Ensembl)
RTN4RGeneProductENSG00000040608 (Ensembl)
SACSGeneProductENSG00000151835 (Ensembl)
SGCAGeneProductENSG00000108823 (Ensembl)
SGCBGeneProductENSG00000163069 (Ensembl)
SGCDGeneProductENSG00000170624 (Ensembl)
SGCGGeneProductENSG00000102683 (Ensembl)
SNTA1GeneProductENSG00000101400 (Ensembl)
SNTB1GeneProductENSG00000172164 (Ensembl)
SPATA13GeneProductENSG00000182957 (Ensembl) ASEF2
SSPNGeneProductENSG00000123096 (Ensembl)
TNFRSF19GeneProductENSG00000127863 (Ensembl) TROY, TAJ
TRAF1GeneProductENSG00000056558 (Ensembl)
TRAF2GeneProductENSG00000127191 (Ensembl)
TRAF3GeneProductENSG00000131323 (Ensembl)
TRAF5GeneProductENSG00000082512 (Ensembl)

Annotated Interactions

No annotated interactions

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