15q24 copy number variation (Homo sapiens)

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1515142935138615710114121chr15:78151253axon extensionneuronal developmentcrosslinks and stabilizes collagensand elastinschr15:72900171part of inhibitorysynapsiscell in the pacemakerarea of the heartGolgin variationexact function unknownexact functionunknowndirects STOM from plasma membrane tolate endosomesformation ofPML-nuclear bodiesSUMOylationT cell response1615MIR4513BBS4SCAMP5BBS2BMP2ATP2B1CYP11A1CCDC33K+ANKRD31BBSome complexSTOMMIR631FAM219BPSTPIP1TREML2MAN2C1PPCDCSTRA6EDC3ISLRGOLGA6DBBS4BBS5CD276BBS7RAB3AMEI4MIR3713BMP4COMMD4COX5ASTOML1XKR8RGMBNEIL1HCN4RCN2ULK3PMLFBXO22GOLGA6CBBIP1TBC1D21GOLGA6BREC114D-glucose 6-phosphateBBS1UBL7D-glucoseCLK3UBE2Q2FBLN5PTK2TTC8LOXL1TP53C15orf39ADPSCAPERGOLGA6ASEMA7AHMG20ACHEK2SIN3AC15orf27IHO1FBXW7LMAN1LBMP6RGMAINSYN1ODF3L1MPITSPAN3CYP1A2SNX33LINGO1ISL2MDM2CYP1A1cAMPETFAAMPRPP25CPLX3PTPN9ISLR2ADPGKPEAK1SCAMP2NRG4IMP3CSKMIR4313CSPG4NEO1HIGD2BBBS9BMP7ARID3BNPTNCDK2SNUPNfunctionunknownpossibly pseudogeneK+96


Description

15q24 - under construction

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Bibliography

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  1. 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
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History

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127199view14:23, 15 August 2023Fehrhartwork in progress
127195view09:00, 11 August 2023FehrhartNew pathway

External references

DataNodes

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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)
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)
K+MetaboliteCHEBI:29103 (ChEBI)
LINGO1GeneProductENSG00000169783 (Ensembl)
LMAN1LGeneProductENSG00000140506 (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)
PMLGeneProductENSG00000140464 (Ensembl)
PPCDCGeneProductENSG00000138621 (Ensembl)
PSTPIP1GeneProductENSG00000140368 (Ensembl)
PTK2GeneProductENSG00000169398 (Ensembl)
PTPN9GeneProductENSG00000169410 (Ensembl)
RAB3AGeneProductENSG00000105649 (Ensembl)
RCN2GeneProductENSG00000117906 (Ensembl)
REC114GeneProductENSG00000183324 (Ensembl) C15orf60
RGMAGeneProductENSG00000182175 (Ensembl)
RGMBGeneProductENSG00000174136 (Ensembl)
RPP25GeneProductENSG00000178718 (Ensembl)
SCAMP2GeneProductENSG00000140497 (Ensembl)
SCAMP5GeneProductENSG00000198794 (Ensembl)
SCAPERGeneProductENSG00000140386 (Ensembl)
SEMA7AGeneProductENSG00000138623 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SNUPNGeneProductENSG00000169371 (Ensembl)
SNX33GeneProductENSG00000173548 (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)

Annotated Interactions

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