15q13.3 copy number variation syndrome (Homo sapiens)

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115, 145, 141238132913107recruitment and stimulation ofleukocytes and NKsunspecific cation channelneocortex developmentlightChromosome 15:32,500,000ubiquitinated proteintumor growthincreased Ca2+ fluxupon stimulationSchizophrenia risk geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaedendritic growthneuronal developmentASD risk geneChromosome 15:30,500,00 Function unclearInactive phosphatidyl-inositol 3-phosphatase 10Source: https://www.uniprot.org/uniprot/Q9NXD2RNA geneRegulation of photosensitiviyof retinaCHRFAM7AGRM6RNU6-466Phsa-mir-211FANCD2AcetylcholineRN7SL628PMTMR10GPR75CHRNA7Alpha-BungarotoxinRN7SL82PRNU6-17POTUD7ACREBBPglutamateRN7SL796PRNU6-18PGOLGA8UPGOLGA8RFanconi Anemia PathwayGOLGA8QLINC02352HERC2P10ULK4P2DNM1P50RN7SL196PUBE2CP4GOLGA8HFYNCCL5ADP/ATP translocasesKLF13DNAFAN1ARHGAP11BTRPM1pseudo geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeUFANCD2U64CCL5SERPINH1KAT2B99


Description

This pathway shows the genes deleted or duplicated in 15q13.3 copy number variation syndrome. The affected region is between 30,500,000-32,500,000 bp on Chromosome 15. The major genes in this region are OTUD7A and CHRNA7 which are known influencers of neuronal development and function. For several genes in this regio there are no exact functions known yet - e.g. the GOLGA gene group or the MTMR10 which is similar to phosphatidyl-inositol 3 phosphatases but without an active catalytic centre.

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Bibliography

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  1. Young HS, Herbette LG, Skita V; ''Alpha-bungarotoxin binding to acetylcholine receptor membranes studied by low angle X-ray diffraction.''; Biophys J, 2003 PubMed Europe PMC Scholia
  2. Namba T, Dóczi J, Pinson A, Xing L, Kalebic N, Wilsch-Bräuninger M, Long KR, Vaid S, Lauer J, Bogdanova A, Borgonovo B, Shevchenko A, Keller P, Drechsel D, Kurzchalia T, Wimberger P, Chinopoulos C, Huttner WB; ''Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.''; Neuron, 2020 PubMed Europe PMC Scholia
  3. Schneider FM, Mohr F, Behrendt M, Oberwinkler J; ''Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells.''; Eur J Cell Biol, 2015 PubMed Europe PMC Scholia
  4. Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M; ''Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
  5. Kihara T, Shimohama S, Sawada H, Honda K, Nakamizo T, Shibasaki H, Kume T, Akaike A; ''alpha 7 nicotinic receptor transduces signals to phosphatidylinositol 3-kinase toblock A beta-amyloid-induced neurotoxicity.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  6. Adler LE, Hoffer LD, Wiser A, Freedman R; ''Normalization of auditory physiology by cigarette smoking in schizophrenic patients.''; Am J Psychiatry, 1993 PubMed Europe PMC Scholia
  7. Martemyanov KA, Sampath AP; ''The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease.''; Annu Rev Vis Sci, 2017 PubMed Europe PMC Scholia
  8. Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prüfer K, Kelso J, Naumann R, Nüsslein I, Dahl A, Lachmann R, Pääbo S, Huttner WB; ''Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.''; Science, 2015 PubMed Europe PMC Scholia
  9. Song A, Chen YF, Thamatrakoln K, Storm TA, Krensky AM; ''RFLAT-1: a new zinc finger transcription factor that activates RANTES gene expression in T lymphocytes.''; Immunity, 1999 PubMed Europe PMC Scholia
  10. Lachaud C, Moreno A, Marchesi F, Toth R, Blow JJ, Rouse J; ''Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.''; Science, 2016 PubMed Europe PMC Scholia
  11. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK; ''OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.''; Am J Hum Genet, 2018 PubMed Europe PMC Scholia
  12. Ignatov A, Robert J, Gregory-Evans C, Schaller HC; ''RANTES stimulates Ca2+ mobilization and inositol trisphosphate (IP3) formation in cells transfected with G protein-coupled receptor 75.''; Br J Pharmacol, 2006 PubMed Europe PMC Scholia
  13. Levy C, Khaled M, Iliopoulos D, Janas MM, Schubert S, Pinner S, Chen PH, Li S, Fletcher AL, Yokoyama S, Scott KL, Garraway LA, Song JS, Granter SR, Turley SJ, Fisher DE, Novina CD; ''Intronic miR-211 assumes the tumor suppressive function of its host gene in melanoma.''; Mol Cell, 2010 PubMed Europe PMC Scholia
  14. Song CZ, Keller K, Murata K, Asano H, Stamatoyannopoulos G; ''Functional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2.''; J Biol Chem, 2002 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134608view10:10, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
115789view08:37, 12 March 2021Fehrhartupdate in progress
115777view14:01, 11 March 2021FehrhartModified description
115776view14:00, 11 March 2021Fehrhartupdate to GHRC37
111500view13:14, 20 August 2020FehrhartModified description
111499view13:05, 20 August 2020FehrhartOntology Term : 'disease pathway' added !
111498view13:04, 20 August 2020FehrhartOntology Term : 'chromosome 15q13.3 microdeletion syndrome' added !
111497view13:03, 20 August 2020FehrhartOntology Term : 'genetic disease' added !
111496view13:00, 20 August 2020Fehrhartwork in progress
111488view09:06, 20 August 2020Fehrhartwork in progress
111483view12:19, 19 August 2020Fehrhartwork in progress
111249view11:08, 27 July 2020EgonwReplaced a secondary ChEBI identifier with a primary id
111193view15:54, 23 July 2020Fehrhartwork in progress
111192view15:16, 23 July 2020Fehrhartwork in progress
111189view05:59, 23 July 2020EgonwReplaced a secondary ChEBI identifier with a primary one
111186view11:18, 22 July 2020Fehrhartwork in progress
111185view11:04, 22 July 2020Fehrhartwork in progress
110969view14:11, 24 June 2020FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ADP/ATP translocasesGeneProductPF00153 (Pfam)
ARHGAP11BGeneProductENSG00000285077 (Ensembl)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
Alpha-BungarotoxinMetaboliteQ1159221 (Wikidata)
CCL5GeneProductENSG00000271503 (Ensembl)
CHRFAM7AGeneProductENSG00000166664 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
DNAMetaboliteCHEBI:16991 (ChEBI)
DNM1P50GeneProductENSG00000259890 (Ensembl)
FAN1GeneProductENSG00000198690 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FYNGeneProductENSG00000010810 (Ensembl)
Fanconi Anemia PathwayPathwayWP3569 (WikiPathways)
GOLGA8HGeneProductENSG00000261794 (Ensembl)
GOLGA8QGeneProductENSG00000178115 (Ensembl)
GOLGA8RGeneProductENSG00000186399 (Ensembl)
GOLGA8UPGeneProductENSG00000103832 (Ensembl)
GPR75GeneProductENSG00000119737 (Ensembl)
GRM6GeneProductENSG00000113262 (Ensembl)
HERC2P10GeneProductENSG00000259845 (Ensembl)
KAT2BGeneProductENSG00000114166 (Ensembl)
KLF13GeneProductENSG00000169926 (Ensembl)
LINC02352GeneProductENSG00000259448 (Ensembl)
MTMR10GeneProductENSG00000166912 (Ensembl)
OTUD7AGeneProductENSG00000169918 (Ensembl)
RN7SL196PGeneProductENSG00000274424 (Ensembl)
RN7SL628PGeneProductENSG00000277467 (Ensembl)
RN7SL796PGeneProductENSG00000277031 (Ensembl)
RN7SL82PGeneProductENSG00000278696 (Ensembl)
RNU6-17PGeneProductENSG00000206972 (Ensembl)
RNU6-18PGeneProductENSG00000207257 (Ensembl)
RNU6-466PGeneProductENSG00000212526 (Ensembl)
SERPINH1GeneProductENSG00000149257 (Ensembl)
TRPM1GeneProductENSG00000134160 (Ensembl)
UBE2CP4GeneProductENSG00000259179 (Ensembl)
ULK4P2GeneProductENSG00000260128 (Ensembl)
glutamateMetaboliteCHEBI:14321 (ChEBI)
hsa-mir-211RnaMI0000287 (miRBase Sequence)

Annotated Interactions

No annotated interactions

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