15q24 copy number variation (Homo sapiens)

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Revision as of 08:03, 6 August 2025 by Fehrhart (Talk | contribs)
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Description

15q24 - under construction

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Bibliography

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  1. Hagihara M, Endo M, Hata K, Higuchi C, Takaoka K, Yoshikawa H, Yamashita T; ''Neogenin, a receptor for bone morphogenetic proteins.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
  2. Seifert R, Scholten A, Gauss R, Mincheva A, Lichter P, Kaupp UB; ''Molecular characterization of a slowly gating human hyperpolarization-activated channel predominantly expressed in thalamus, heart, and testis.''; Proc Natl Acad Sci U S A, 1999 PubMed Europe PMC Scholia
  3. Alazami AM, Maddirevula S, Seidahmed MZ, Albhlal LA, Alkuraya FS; ''A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.''; Hum Genet, 2019 PubMed Europe PMC Scholia
  4. Bobbs A, Gellerman K, Hallas WM, Joseph S, Yang C, Kurkewich J, Cowden Dahl KD; ''ARID3B Directly Regulates Ovarian Cancer Promoting Genes.''; PLoS One, 2015 PubMed Europe PMC Scholia
  5. Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW; ''Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.''; Proc Natl Acad Sci U S A, 2011 PubMed Europe PMC Scholia
  6. Lin YH, Lin YM, Kuo YC, Wang YY, Kuo PL; ''Identification and characterization of a novel Rab GTPase-activating protein in spermatids.''; Int J Androl, 2011 PubMed Europe PMC Scholia
  7. Gong D, Chi X, Ren K, Huang G, Zhou G, Yan N, Lei J, Zhou Q; ''Structure of the human plasma membrane Ca(2+)-ATPase 1 in complex with its obligatory subunit neuroplastin.''; Nat Commun, 2018 PubMed Europe PMC Scholia
  8. Lee AJ, Cai MX, Thomas PE, Conney AH, Zhu BT; ''Characterization of the oxidative metabolites of 17beta-estradiol and estrone formed by 15 selectively expressed human cytochrome p450 isoforms.''; Endocrinology, 2003 PubMed Europe PMC Scholia
  9. Kaczmarek K, Niedzialkowska E, Studencka M, Schulz Y, Grzmil P; ''Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein.''; Cytogenet Genome Res, 2009 PubMed Europe PMC Scholia
  10. Suzuki K, Okuno T, Yamamoto M, Pasterkamp RJ, Takegahara N, Takamatsu H, Kitao T, Takagi J, Rennert PD, Kolodkin AL, Kumanogoh A, Kikutani H; ''Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin.''; Nature, 2007 PubMed Europe PMC Scholia
  11. Bernardi R, Pandolfi PP; ''Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies.''; Nat Rev Mol Cell Biol, 2007 PubMed Europe PMC Scholia
  12. Bowler E, Porazinski S, Uzor S, Thibault P, Durand M, Lapointe E, Rouschop KMA, Hancock J, Wilson I, Ladomery M; ''Hypoxia leads to significant changes in alternative splicing and elevated expression of CLK splice factor kinases in PC3 prostate cancer cells.''; BMC Cancer, 2018 PubMed Europe PMC Scholia
  13. Mairhofer M, Steiner M, Salzer U, Prohaska R; ''Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  14. http://www.ebi.ac.uk/Tools/webservices/psicquic/view/main.xhtml; ''''; ,
  15. Duncan PI, Stojdl DF, Marius RM, Scheit KH, Bell JC; ''The Clk2 and Clk3 dual-specificity protein kinases regulate the intranuclear distribution of SR proteins and influence pre-mRNA splicing.''; Exp Cell Res, 1998 PubMed Europe PMC Scholia
  16. Badawi AF, Cavalieri EL, Rogan EG; ''Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol.''; Metabolism, 2001 PubMed Europe PMC Scholia
  17. Briguglio M, Hrelia S, Malaguti M, Serpe L, Canaparo R, Dell'Osso B, Galentino R, De Michele S, Dina CZ, Porta M, Banfi G; ''Food Bioactive Compounds and Their Interference in Drug Pharmacokinetic/Pharmacodynamic Profiles.''; Pharmaceutics, 2018 PubMed Europe PMC Scholia
  18. Scott GA, McClelland LA, Fricke AF; ''Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins.''; J Invest Dermatol, 2008 PubMed Europe PMC Scholia
  19. Berry DC, Jin H, Majumdar A, Noy N; ''Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses.''; Proc Natl Acad Sci U S A, 2011 PubMed Europe PMC Scholia
  20. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K; ''Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.''; Science, 2007 PubMed Europe PMC Scholia
  21. Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q; ''Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.''; J Med Genet, 2020 PubMed Europe PMC Scholia
  22. Fenger-Grøn M, Fillman C, Norrild B, Lykke-Andersen J; ''Multiple processing body factors and the ARE binding protein TTP activate mRNA decapping.''; Mol Cell, 2005 PubMed Europe PMC Scholia
  23. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T; ''Elastic fiber homeostasis requires lysyl oxidase-like 1 protein.''; Nat Genet, 2004 PubMed Europe PMC Scholia
  24. Numata S, Claudio PP, Dean C, Giordano A, Croce CM; ''Bdp, a new member of a family of DNA-binding proteins, associates with the retinoblastoma gene product.''; Cancer Res, 1999 PubMed Europe PMC Scholia
  25. Kim D, Probst L, Das C, Tucker PW; ''REKLES is an ARID3-restricted multifunctional domain.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  26. Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J; ''Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.''; Hum Mol Genet, 2014 PubMed Europe PMC Scholia
  27. Xu X, Vysotskaya ZV, Liu Q, Zhou L; ''Structural basis for the cAMP-dependent gating in the human HCN4 channel.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  28. Suzuki J, Imanishi E, Nagata S; ''Xkr8 phospholipid scrambling complex in apoptotic phosphatidylserine exposure.''; Proc Natl Acad Sci U S A, 2016 PubMed Europe PMC Scholia
  29. Jiang W, Li X, Xu H, Gu X, Li S, Zhu L, Lu J, Duan X, Li W, Fang M; ''UBL7 enhances antiviral innateimmunity by promoting Lys27-linked polyubiquitination of MAVS.''; Cell Rep, 2023 PubMed Europe PMC Scholia
  30. Zhang W, MacDonald EM, Koepp DM; ''The stomatin-like protein SLP-1 and Cdk2 interact with the F-Box protein Fbw7-γ.''; PLoS One, 2012 PubMed Europe PMC Scholia
  31. Ren XR, Ming GL, Xie Y, Hong Y, Sun DM, Zhao ZQ, Feng Z, Wang Q, Shim S, Chen ZF, Song HJ, Mei L, Xiong WC; ''Focal adhesion kinase in netrin-1 signaling.''; Nat Neurosci, 2004 PubMed Europe PMC Scholia
  32. Hashiguchi M, Kobori H, Ritprajak P, Kamimura Y, Kozono H, Azuma M; ''Triggering receptor expressed on myeloid cell-like transcript 2 (TLT-2) is a counter-receptor for B7-H3 and enhances T cell responses.''; Proc Natl Acad Sci U S A, 2008 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
140203view11:50, 6 August 2025Fehrhartwork in progress
140198view09:07, 6 August 2025Fehrhartwork in progress
140197view08:33, 6 August 2025Fehrhartwork in progress
140195view08:03, 6 August 2025FehrhartWork in progress
136292view13:43, 22 January 2025Fehrhartongoing work
136288view09:54, 22 January 2025Fehrhartongoing work
136287view09:40, 22 January 2025Fehrhartcontinued construction work
127199view14:23, 15 August 2023Fehrhartwork in progress
127195view09:00, 11 August 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADPMetabolite456216 (ChEBI)
ADPGKGeneProductENSG00000159322 (Ensembl)
AMPMetabolite456215 (ChEBI)
ANKRD31GeneProductENSG00000145700 (Ensembl)
ARID3BGeneProductENSG00000179361 (Ensembl)
ATP2B1GeneProductENSG00000070961 (Ensembl)
BBIP1GeneProductA8MTZ0 (Uniprot-TrEMBL)
BBS1GeneProductQ8NFJ9 (Uniprot-TrEMBL)
BBS2GeneProductQ9BXC9 (Uniprot-TrEMBL)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS4GeneProductQ96RK4 (Uniprot-TrEMBL)
BBS5GeneProductQ8N3I7 (Uniprot-TrEMBL)
BBS7GeneProductQ8IWZ6 (Uniprot-TrEMBL)
BBS9GeneProductQ3SYG4 (Uniprot-TrEMBL)
BBSome complexComplexCPX-1908
BMP2GeneProductENSG00000125845 (Ensembl)
BMP4GeneProductENSG00000125378 (Ensembl)
BMP6GeneProductENSG00000153162 (Ensembl)
BMP7GeneProductENSG00000101144 (Ensembl)
C15orf27GeneProductENSG00000169758 (Ensembl)
C15orf39GeneProductENSG00000167173 (Ensembl)
CCDC33GeneProductENSG00000140481 (Ensembl)
CD276GeneProductENSG00000103855 (Ensembl) B7-H3
CDK2GeneProductENSG00000123374 (Ensembl)
CHEK2GeneProductENSG00000183765 (Ensembl)
CLK3GeneProductENSG00000179335 (Ensembl)
CNPY3GeneProductENSG00000137161 (Ensembl)
COMMD4GeneProductENSG00000140365 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
CPLX3GeneProductENSG00000213578 (Ensembl)
CSKGeneProductENSG00000103653 (Ensembl)
CSPG4GeneProductENSG00000173546 (Ensembl)
CYP11A1GeneProductENSG00000140459 (Ensembl)
CYP1A1GeneProductENSG00000140465 (Ensembl)
CYP1A2GeneProductENSG00000140505 (Ensembl)
D-glucose 6-phosphateMetabolite61548 (ChEBI)
D-glucoseMetabolite4167 (ChEBI)
EDC3GeneProductENSG00000179151 (Ensembl)
ETFAGeneProductENSG00000140374 (Ensembl)
FAM219BGeneProductENSG00000178761 (Ensembl)
FBLN5GeneProductENSG00000140092 (Ensembl)
FBXO22GeneProductENSG00000167196 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
GOLGA6AGeneProductENSG00000159289 (Ensembl)
GOLGA6BGeneProductENSG00000215186 (Ensembl)
GOLGA6CGeneProductENSG00000167195 (Ensembl)
GOLGA6DGeneProductENSG00000140478 (Ensembl)
HCN4GeneProductENSG00000138622 (Ensembl)
HIGD2BGeneProductENSG00000175202 (Ensembl)
HMG20AGeneProductENSG00000140382 (Ensembl)
IHO1GeneProductENSG00000173421 (Ensembl)
IMP3GeneProductENSG00000177971 (Ensembl)
INSYN1GeneProductENSG00000205363 (Ensembl) C15orf59
ISL2GeneProductENSG00000159556 (Ensembl)
ISLR2GeneProductENSG00000167178 (Ensembl)
ISLRGeneProductENSG00000129009 (Ensembl)
ITGA1GeneProductENSG00000213949 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
JAK2GeneProductENSG00000096968 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
LINGO1GeneProductENSG00000169783 (Ensembl)
LMAN1LGeneProductENSG00000140506 (Ensembl)
LMLNGeneProductENSG00000185621 (Ensembl)
LOXL1GeneProductENSG00000129038 (Ensembl)
MAN2C1GeneProductENSG00000140400 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
MEI4GeneProductENSG00000269964 (Ensembl)
MIR3713GeneProductENSG00000266449 (Ensembl)
MIR4313GeneProductENSG00000261043 (Ensembl)
MIR4513GeneProductENSG00000264386 (Ensembl)
MIR631GeneProductENSG00000207636 (Ensembl)
MPIGeneProductENSG00000178802 (Ensembl)
NEIL1GeneProductENSG00000140398 (Ensembl)
NEO1GeneProductENSG00000067141 (Ensembl)
NPTNGeneProductENSG00000156642 (Ensembl)
NRG4GeneProductENSG00000169752 (Ensembl)
ODF3L1GeneProductENSG00000182950 (Ensembl)
PEAK1GeneProductENSG00000173517 (Ensembl)
PLXNC1GeneProductENSG00000136040 (Ensembl)
PMLGeneProductENSG00000140464 (Ensembl)
PPCDCGeneProductENSG00000138621 (Ensembl)
PSTPIP1GeneProductENSG00000140368 (Ensembl)
PTK2GeneProductENSG00000169398 (Ensembl)
PTPN9GeneProductENSG00000169410 (Ensembl)
RAB3AGeneProductENSG00000105649 (Ensembl)
RBP1GeneProductENSG00000114115 (Ensembl)
RBP2GeneProductENSG00000114113 (Ensembl)
RBP5GeneProductENSG00000139194 (Ensembl)
RBP7GeneProductENSG00000162444 (Ensembl)
RCN2GeneProductENSG00000117906 (Ensembl)
REC114GeneProductENSG00000183324 (Ensembl) C15orf60
RGMAGeneProductENSG00000182175 (Ensembl)
RGMBGeneProductENSG00000174136 (Ensembl)
RHOBTB3GeneProductENSG00000164292 (Ensembl)
RPP25GeneProductENSG00000178718 (Ensembl)
SCAMP2GeneProductENSG00000140497 (Ensembl)
SCAMP5GeneProductENSG00000198794 (Ensembl)
SCAPERGeneProductENSG00000140386 (Ensembl)
SEMA7AGeneProductENSG00000138623 (Ensembl)
SGPL1GeneProductENSG00000166224 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SLC25A20GeneProductENSG00000178537 (Ensembl)
SNUPNGeneProductENSG00000169371 (Ensembl)
SNX33GeneProductENSG00000173548 (Ensembl)
SRSF1GeneProductENSG00000136450 (Ensembl)
SRSF3GeneProductENSG00000112081 (Ensembl)
STAT5AGeneProductENSG00000126561 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
STOMGeneProductENSG00000148175 (Ensembl)
STOML1GeneProductENSG00000067221 (Ensembl)
STRA6GeneProductENSG00000137868 (Ensembl)
TBC1D21GeneProductENSG00000167139 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TREML2GeneProductENSG00000112195 (Ensembl)
TSPAN3GeneProductENSG00000140391 (Ensembl)
TTC8GeneProductQ8TAM2 (Uniprot-TrEMBL)
UBE2Q2GeneProductENSG00000140367 (Ensembl)
UBL7GeneProductENSG00000138629 (Ensembl)
ULK3GeneProductENSG00000140474 (Ensembl)
XKR8GeneProductENSG00000158156 (Ensembl)
cAMPMetaboliteCHEBI:17489 (ChEBI)
cholesterolMetaboliteCHEBI:16113 (ChEBI)
pregnenoloneMetaboliteCHEBI:16581 (ChEBI)
retinolMetaboliteCHEBI:17336 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
ADPAMPmim-conversion11460 (Rhea)
D-glucoseD-glucose 6-phosphatemim-conversion11460 (Rhea)
cholesterolpregnenolonemim-conversion35739 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5410"
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