10q22q23 copy number variation (Homo sapiens)

From WikiPathways

Revision as of 23:20, 21 July 2024 by Eweitz (Talk | contribs)
Jump to: navigation, search
1527616491714, 1918, 3482532832, 5, 720113212, 1318312430102922, 33261, 2111lightunknown functionunknown functionpossibly involved inT-cell signallingspermatogenesischr10:88,931,651chr10:82,045,472unknown function23TSPAN14SMC1ARSPH4ANuclear mitotic cohesin complexRSPH14PRXL2Aaxonemal radial spoke complex 1 (RS1)MIR346ROPN1LCCSER2RetinalNME5SHLD2MMRN2LINC00858SHLD3MAPK signaling pathwayPKCRSPH9RSPH3NRG3Shieldin complexK+ACTN2DNAJB13SIRT4SMC3NFKB1GLUD1SH3GL3SNCGH+DYDC1ADIRFSUSD2SHLD1Ca2+LRIT2LRIT1PKAOPN4TNFSF11K+L-glutamateSTAG1MAT1ALDB3CEBPAPDS5BRAD21MAD2L2BUB1BADAM10BMP2GPR15IQUBGHITMMAS1H2OL-methionineBMPR1AERBB4SH2D4BGRID1CDHR1DYDC2C10orf99ZMYND11VEGFAPPARGMg2+FAM25ASF3B4ATPRSPH6APDS5A2-oxoglutarateWAPALRGRWNT signalingRSPH1AFG3L211-cis-RetinaldehydeDiphosphatePhosphateS-adenosyl-L-methionineDYDC1K+H+Ca2+unknown function1darkunknown functionlikely microtubulebindingWAPAL26unknown function28SHLD2


Description

10q22q23 copy number variation syndrome is a rare genetic syndrome caused by a deletion or duplication in the region 10q22q23 of chromosome 10. The exact position (chr10:82,045,472-88,931,651, GRCh37) was taken from Kirov et al. 2014 and literature cited there. Patients usually suffer from developmental delay and psychiatric disorders as well as facial dyspmorphisms, and cardiac abnormalities.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Gupta A, Inaba S, Wong OK, Fang G, Liu J; ''Breast cancer-specific gene 1 interacts with the mitotic checkpoint kinase BubR1.''; Oncogene, 2003 PubMed Europe PMC Scholia
  2. Plaitakis A, Metaxari M, Shashidharan P; ''Nerve tissue-specific (GLUD2) and housekeeping (GLUD1) human glutamate dehydrogenases are regulated by distinct allosteric mechanisms: implications for biologic function.''; J Neurochem, 2000 PubMed Europe PMC Scholia
  3. Gupta R, Somyajit K, Narita T, Maskey E, Stanlie A, Kremer M, Typas D, Lammers M, Mailand N, Nussenzweig A, Lukas J, Choudhary C; ''DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity.''; Cell, 2018 PubMed Europe PMC Scholia
  4. Ocón B, Pan J, Dinh TT, Chen W, Ballet R, Bscheider M, Habtezion A, Tu H, Zabel BA, Butcher EC; ''A Mucosal and Cutaneous Chemokine Ligand for the Lymphocyte Chemoattractant Receptor GPR15.''; Front Immunol, 2017 PubMed Europe PMC Scholia
  5. Xu Y, Morse LR, da Silva RA, Odgren PR, Sasaki H, Stashenko P, Battaglino RA; ''PAMM: a redox regulatory protein that modulates osteoclast differentiation.''; Antioxid Redox Signal, 2010 PubMed Europe PMC Scholia
  6. Guo F, He H, Fu ZC, Huang S, Chen T, Papasian CJ, Morse LR, Xu Y, Battaglino RA, Yang XF, Jiang Z, Xin HB, Fu M; ''Adipocyte-derived PAMM suppresses macrophage inflammation by inhibiting MAPK signalling.''; Biochem J, 2015 PubMed Europe PMC Scholia
  7. Yatskevich S, Rhodes J, Nasmyth K; ''Organization of Chromosomal DNA by SMC Complexes.''; Annu Rev Genet, 2019 PubMed Europe PMC Scholia
  8. Ni Y, Ji C, Wang B, Qiu J, Wang J, Guo X; ''A Novel pro-adipogenesis factor abundant in adipose tissues and over-expressed in obesity acts upstream of PPARγ and C/EBPα.''; J Bioenerg Biomembr, 2013 PubMed Europe PMC Scholia
  9. Nickel J, Dreyer MK, Kirsch T, Sebald W; ''The crystal structure of the BMP-2:BMPR-IA complex and the generation of BMP-2 antagonists.''; J Bone Joint Surg Am, 2001 PubMed Europe PMC Scholia
  10. Austin S, Mekis R, Mohammed SEM, Scalise M, Wang WA, Galluccio M, Pfeiffer C, Borovec T, Parapatics K, Vitko D, Dinhopl N, Demaurex N, Bennett KL, Indiveri C, Nowikovsky K; ''TMBIM5 is the Ca(2+) /H(+) antiporter of mammalian mitochondria.''; EMBO Rep, 2022 PubMed Europe PMC Scholia
  11. Hao W, Fong HK; ''The endogenous chromophore of retinal G protein-coupled receptor opsin from the pigment epithelium.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  12. Nishanian TG, Waldman T; ''Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor.''; Biochem Biophys Res Commun, 2004 PubMed Europe PMC Scholia
  13. Tseng PY, Hoon MA; ''GPR15L is an epithelial inflammation-derived pruritogen.''; Sci Adv, 2022 PubMed Europe PMC Scholia
  14. Jouannet S, Saint-Pol J, Fernandez L, Nguyen V, Charrin S, Boucheix C, Brou C, Milhiet PE, Rubinstein E; ''TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization.''; Cell Mol Life Sci, 2016 PubMed Europe PMC Scholia
  15. Noy PJ, Yang J, Reyat JS, Matthews AL, Charlton AE, Furmston J, Rogers DA, Rainger GE, Tomlinson MG; ''TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS.''; J Biol Chem, 2016 PubMed Europe PMC Scholia
  16. Patron M, Tarasenko D, Nolte H, Kroczek L, Ghosh M, Ohba Y, Lasarzewski Y, Ahmadi ZA, Cabrera-Orefice A, Eyiama A, Kellermann T, Rugarli EI, Brandt U, Meinecke M, Langer T; ''Regulation of mitochondrial proteostasis by the proton gradient.''; EMBO J, 2022 PubMed Europe PMC Scholia
  17. Kurozumi K, Nishita M, Yamaguchi K, Fujita T, Ueno N, Shibuya H; ''BRAM1, a BMP receptor-associated molecule involved in BMP signalling.''; Genes Cells, 1998 PubMed Europe PMC Scholia
  18. Haining EJ, Yang J, Bailey RL, Khan K, Collier R, Tsai S, Watson SP, Frampton J, Garcia P, Tomlinson MG; ''The TspanC8 subgroup of tetraspanins interacts with A disintegrin and metalloprotease 10 (ADAM10) and regulates its maturation and cell surface expression.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
  19. Shen D, Jiang M, Hao W, Tao L, Salazar M, Fong HK; ''A human opsin-related gene that encodes a retinaldehyde-binding protein.''; Biochemistry, 1994 PubMed Europe PMC Scholia
  20. Melyan Z, Tarttelin EE, Bellingham J, Lucas RJ, Hankins MW; ''Addition of human melanopsin renders mammalian cells photoresponsive.''; Nature, 2005 PubMed Europe PMC Scholia
  21. Haigis MC, Mostoslavsky R, Haigis KM, Fahie K, Christodoulou DC, Murphy AJ, Valenzuela DM, Yancopoulos GD, Karow M, Blander G, Wolberger C, Prolla TA, Weindruch R, Alt FW, Guarente L; ''SIRT4 inhibits glutamate dehydrogenase and opposes the effects of calorie restriction in pancreatic beta cells.''; Cell, 2006 PubMed Europe PMC Scholia
  22. Lapinski PE, Oliver JA, Bodie JN, Marti F, King PD; ''The T-cell-specific adapter protein family: TSAd, ALX, and SH2D4A/SH2D4B.''; Immunol Rev, 2009 PubMed Europe PMC Scholia
  23. Lorenzon E, Colladel R, Andreuzzi E, Marastoni S, Todaro F, Schiappacassi M, Ligresti G, Colombatti A, Mongiat M; ''MULTIMERIN2 impairs tumor angiogenesis and growth by interfering with VEGF-A/VEGFR2 pathway.''; Oncogene, 2012 PubMed Europe PMC Scholia
  24. Suply T, Hannedouche S, Carte N, Li J, Grosshans B, Schaefer M, Raad L, Beck V, Vidal S, Hiou-Feige A, Beluch N, Barbieri S, Wirsching J, Lageyre N, Hillger F, Debon C, Dawson J, Smith P, Lannoy V, Detheux M, Bitsch F, Falchetto R, Bouwmeester T, Porter J, Baumgarten B, Mansfield K, Carballido JM, Seuwen K, Bassilana F; ''A natural ligand for the orphan receptor GPR15 modulates lymphocyte recruitment to epithelia.''; Sci Signal, 2017 PubMed Europe PMC Scholia
  25. Zhang D, Sliwkowski MX, Mark M, Frantz G, Akita R, Sun Y, Hillan K, Crowley C, Brush J, Godowski PJ; ''Neuregulin-3 (NRG3): a novel neural tissue-enriched protein that binds and activates ErbB4.''; Proc Natl Acad Sci U S A, 1997 PubMed Europe PMC Scholia
  26. Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY; ''Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.''; Am J Hum Genet, 2000 PubMed Europe PMC Scholia
  27. Beckouët F, Srinivasan M, Roig MB, Chan KL, Scheinost JC, Batty P, Hu B, Petela N, Gligoris T, Smith AC, Strmecki L, Rowland BD, Nasmyth K; ''Releasing Activity Disengages Cohesin's Smc3/Scc1 Interface in a Process Blocked by Acetylation.''; Mol Cell, 2016 PubMed Europe PMC Scholia
  28. Li S, Qiao Y, Di Q, Le X, Zhang L, Zhang X, Zhang C, Cheng J, Zong S, Koide SS, Miao S, Wang L; ''Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis.''; Eur J Cell Biol, 2009 PubMed Europe PMC Scholia
  29. Tomida J, Takata KI, Bhetawal S, Person MD, Chao HP, Tang DG, Wood RD; ''FAM35A associates with REV7 and modulates DNA damage responses of normal and BRCA1-defective cells.''; EMBO J, 2018 PubMed Europe PMC Scholia
  30. Zhou Q, Ruiz-Lozano P, Martone ME, Chen J; ''Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  31. Mishina Y, Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR; ''Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
  32. Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y, Sheikh F, Ye S, Chen J, Ke Y, Cheng H; ''Cypher/ZASP is a novel A-kinase anchoring protein.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  33. Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S; ''Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.''; Am J Hum Genet, 2013 PubMed Europe PMC Scholia
  34. Pan W, Cheng Y, Zhang H, Liu B, Mo X, Li T, Li L, Cheng X, Zhang L, Ji J, Wang P, Han W; ''CSBF/C10orf99, a novel potential cytokine, inhibits colon cancer cell growth through inducing G1 arrest.''; Sci Rep, 2014 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134532view16:37, 22 July 2024EgonwAdded missing datasources
134425view23:20, 21 July 2024EweitzRefine node alignment, standardize case
129008view18:46, 2 March 2024PklemmerRemoved line break from 'axonemal radial spoke complex 1 (RS1)' label to avoid issues in WikiPathways backend
127208view09:38, 17 August 2023Fehrhartadded new complex ID
127141view13:21, 6 August 2023FehrhartModified description
127140view13:20, 6 August 2023FehrhartModified description
127139view13:11, 6 August 2023Fehrhartprogress save
127138view12:56, 6 August 2023Fehrhartwork in progress
127127view16:11, 4 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127126view16:11, 4 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127125view16:11, 4 August 2023FehrhartOntology Term : 'disease pathway' added !
127124view16:09, 4 August 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
11-cis-RetinaldehydeMetaboliteHMDB0002152 (HMDB) 11-cis-retinal
2-oxoglutarateMetabolite16810 (ChEBI)
ACTN2GeneProductENSG00000077522 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ADIRFGeneProductENSG00000148671 (Ensembl)
AFG3L2GeneProductENSG00000141385 (Ensembl)
ATPMetabolite30616 (ChEBI)
BMP2GeneProductENSG00000125845 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl) CD292
BUB1BGeneProductENSG00000156970 (Ensembl)
C10orf99GeneProductENSG00000188373 (Ensembl)
CCSER2GeneProductENSG00000107771 (Ensembl)
CDHR1GeneProductENSG00000148600 (Ensembl)
CEBPAGeneProductENSG00000245848 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DYDC1GeneProductENSG00000170788 (Ensembl)
DYDC2GeneProductENSG00000133665 (Ensembl)
DiphosphateMetabolite33019 (ChEBI)
ERBB4GeneProductENSG00000178568 (Ensembl)
FAM25AGeneProductENSG00000188100 (Ensembl)
GHITMGeneProductENSG00000165678 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GPR15GeneProductENSG00000154165 (Ensembl)
GRID1GeneProductENSG00000182771 (Ensembl)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetabolite15377 (ChEBI)
IQUBGeneProductENSG00000164675 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
L-glutamateMetabolite29985 (ChEBI)
L-methionineMetabolite57844 (ChEBI)
LDB3GeneProductENSG00000122367 (Ensembl)
LINC00858GeneProductENSG00000229404 (Ensembl)
LRIT1GeneProductENSG00000148602 (Ensembl)
LRIT2GeneProductENSG00000204033 (Ensembl)
MAD2L2GeneProductENSG00000116670 (Ensembl)
MAPK signaling pathwayPathwayWP382 (WikiPathways)
MAS1GeneProductENSG00000130368 (Ensembl)
MAT1AGeneProductENSG00000151224 (Ensembl)
MIR346GeneProductENSG00000199104 (Ensembl)
MMRN2GeneProductENSG00000173269 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NFKB1GeneProductENSG00000109320 (Ensembl)
NME5GeneProductENSG00000112981 (Ensembl)
NRG3GeneProductENSG00000185737 (Ensembl)
Nuclear mitotic cohesin complexComplexCPX-5989
OPN4GeneProductENSG00000122375 (Ensembl)
PDS5AGeneProductENSG00000121892 (Ensembl)
PDS5BGeneProductENSG00000083642 (Ensembl)
PKAGeneProduct
PKCGeneProduct
PPARGGeneProductENSG00000132170 (Ensembl)
PRXL2AGeneProductENSG00000122378 (Ensembl) FAM213A
PhosphateMetabolite43474 (ChEBI)
RAD21GeneProductENSG00000164754 (Ensembl)
RGRGeneProductENSG00000148604 (Ensembl)
ROPN1LGeneProductENSG00000145491 (Ensembl)
RSPH14GeneProductENSG00000100218 (Ensembl)
RSPH1GeneProductENSG00000160188 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH4AGeneProductENSG00000111834 (Ensembl)
RSPH6AGeneProductENSG00000104941 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
RetinalMetaboliteHMDB0001358 (HMDB) all-trans-retinal
S-adenosyl-L-methionineMetabolite59789 (ChEBI)
SF3B4GeneProductENSG00000143368 (Ensembl)
SH2D4BGeneProductENSG00000178217 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl) SH3P13
SHLD1GeneProductENSG00000171984 (Ensembl)
SHLD2GeneProductENSG00000122376 (Ensembl) FAM35A
SHLD3GeneProductENSG00000253251 (Ensembl)
SIRT4GeneProductENSG00000089163 (Ensembl)
SMC1AGeneProductENSG00000072501 (Ensembl)
SMC3GeneProductENSG00000108055 (Ensembl)
SNCGGeneProductENSG00000173267 (Ensembl)
STAG1GeneProductENSG00000118007 (Ensembl)
SUSD2GeneProductENSG00000099994 (Ensembl)
Shieldin complexComplexCPX-3481
TNFSF11GeneProductENSG00000120659 (Ensembl)
TSPAN14GeneProductENSG00000108219 (Ensembl)
VEGFAGeneProductENSG00000112715 (Ensembl)
WAPALGeneProductENSG00000062650 (Ensembl)
WNT signalingPathwayWP428 (WikiPathways)
ZMYND11GeneProductENSG00000015171 (Ensembl)
axonemal radial spoke complex 1 (RS1)ComplexCPX-8163complex portal

Annotated Interactions

SourceTargetTypeDatabase referenceComment
L-glutamate2-oxoglutaratemim-conversion15133 (Rhea)
MAT1Amim-catalysis21080 (Rhea)
mim-conversion21080 (Rhea)
Personal tools