17q12 copy number variation syndrome (Homo sapiens)

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Centromerechr17: 33,500,001chr17: 39,800,000Deleted Genes on 17q12 Microdeletion SyndromeTBC1D3HEPOPSLC35G3Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseasesReceptortyrosine-protein kinase erbB-2Hepatocyte growth factor receptor signalingTBC1D3GPEX12 SLFN14rRNA modification in the mitochondrionTBC1 domain family member 3HFamilial hyperlipidemia type 3 CDGSH iron-sulfur domain-containing protein 3, mitochondrial p53 transcriptional gene networkProtein AF-17E3 ubiquitin-protein ligase rififylinCCL4L2CCL3L1Notchless protein homolog 1 NEUROD2RFFLC-C motif chemokine 3-like 1C-C motif chemokine 4RASL10BDUSP14TBC1 domain family member 3IFNDC8TMEM132E-DTProbable G-protein coupled receptor 179TBC1D3CF-box only protein 47Uncharacterized protein C17orf98Transmembrane protein 132ETATA-binding protein-associated factor 2NAP2B1StAR-related lipid transfer protein 3 Pre-mRNA-splicing factor CWC25 homolog TMEM132E-DTSTARD3Suppressor of cytokine signaling 7 Lysozyme-like protein 6 HostInteractions of HIV factorsF-box/LRR-repeat protein 20MRM1LIM and SH3 domain protein 1 Dual specificity protein phosphatase 14C17orf78 TBC1 domain family member 3BCCL13Zinc finger HIT domain-containing protein 3Phosphatidylinositol-glycan biosynthesis class W proteinSolute carrier family 35 member G3CCL7MLLT6CCL5RDM1Nuclear receptorsPCGF2PIP4K2BZinc finger protein Aiolos Ion channeltransport T-complex protein 1 subunit zeta-2 HNF1BTBC1 domain family member 3CPeroxisomallipid metabolismMitochondrial iron-sulfur cluster biogenesis C-C motif chemokine 7EotaxinPLXDC1C-C motif chemokine 1Protein foldingDNA ligase 3 Plexin domain-containing protein 1 RPL23Fibronectin type III domain-containing protein 8Telethonin Familialhyperlipidemiatype 1Ribonuclease SLFN12CCL11 DNA replicationTCAPPutative ADP-ribosylation factor-like protein 5CFBXL20TBC1D3LCCT6BPresynaptic depolarizationand calciumchannel openingPhenylethanolamine N-methyltransferase C-C motif chemokine 18SYNRGSLFN5Hepatocyte nuclearfactor 1-betaSLFN13ZNHIT3RAD52 motif-containing protein 1Probable ATP-dependentRNA helicase DDX52ERBB2DHRS11Brain-derived neurotrophic factor (BDNF) signaling pathwayCWC25Peroxisomal protein import C-C motif chemokine 3DNA repair protein RAD51 homolog 4RAF/MAP kinase cascadeTADA2AC-C motif chemokine 15CACNB1Cyclin-dependent kinase 12 CCL18Polycomb group RING finger protein 2ACACAG-protein betagamma signalingCDK12TBC1D3ISLFN12SRC kinase signaling inhibitor 1TBC1 domain family member 3KMitochondrial protein importNLE1Migration and invasion enhancer 1ZNF830IKZF3Matrix metalloproteinase-28C-C motif chemokine 4-like LYZL6Protein SLFN14Transcriptional adapter 2-alphaAcetyl-CoA carboxylase 1 CCL8C-C motif chemokine 14Unconventional myosin-XIXSLFN11AATFTMEM132EGametogenetin-binding protein 2Post-GPI attachment to proteins factor 3 C-C motif chemokine 5 CCL14Synergin gammaRho GTPase-activating protein 23Uncharacterized protein C17orf50TECCCL15GRB7C-C motif chemokine 8LASP1CCL4LHX1MMP28TBC1D3KCostimulation by the CD28 familyLIG3Protein HEATR9G protein signaling pathways39S ribosomal protein L45, mitochondrialPPP1R1BProtein unc-45 homolog BEGFR tyrosine kinase inhibitor resistanceTAF15SH3 and cysteine-rich domain-containing protein 2 TBC1 domain family member 3LBrain-derived neurotrophic factor (BDNF) signaling pathwayMIEN1ARL5CUncharacterized protein C17orf78 Interactome of polycomb repressive complex 2 (PRC2)C-C motif chemokine 16 GPR179SRCIN1C-C motif chemokine 13NRF2 pathway DNA repair pathwaysLIM/homeobox protein Lhx1 Prolactin receptor signalingDDX52AP-2 complex subunit betaC17orf98Dehydrogenase/reductase SDR family member 11Peroxisome assembly protein 12Schlafen family member 11Class I peroxisomal membrane protein importFBXO47Neurogenic differentiation factor 2Hepatitis B infectionGAS2-like protein 2CCL1TBC1D3Elongin BC and Polycomb repressive complex 2-associated proteinProtein AATF Tyrosine-protein kinase Tec STAC2Growth factor receptor-bound protein 7 Protein phosphatase 1 regulatory subunit 1BZinc finger protein 830 Ras-like proteinfamily member 10BSOCS7UNC45BProteinC17orf50PGAP3RAD51D GeneTBC1D3BrRNA methyltransferase1, mitochondrial Schlafen familymember 13Degradation of beta-catenin by the destruction complex C-C motif chemokine 2Mediator of RNA polymerase II transcription subunit 1 60S ribosomal protein L23MRPL45GGNBP2CISD3Acid-sensing ion channel 2MYO19Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signalingTBC1 domain family member 3Methionine metabolism leading to sulfur aminoacids and related disordersMED1Phosphatidylinositol 5-phosphate 4-kinase type-2 betaPNMTCCL16ARHGAP23Schlafen family member 5GAS2L2PathwayPIGWCCL3ASIC2 TBC1 domain family member 3G Voltage-dependent L-type calcium channel subunit beta-1HEATR9RNA Polymerase II Transcription16711, 64112106, 1161392415411867, 72, 104141113431433331, 1471316411813511111814411813193959247, 108, 1242314814, 6513115217369, 12311814915114646541091319819, 66131787713128, 9711786813013157130118393135131158121281321316137682296, 1291789237119, 14111894101181631188550, 110671022616915511311641181541181166310249, 13312151151481311599152, 93, 156, 15720, 997, 62171763414137, 5915821411889, 126, 168174969165118118118281317314012015061171161608321171102107TLK2P1 134, 17010237, 901186626, 554441, 947156100153, 1668561251186131881, 1602114281311181810558, 79, 14532, 14845601721314033384981754, 1381775370, 8376271128748103328, 38, 7413651118352979115251648, 177142, 1443611875, 12816210328, 7461118127CCL280Chemokine signaling pathway42Chemokine signaling pathway42Chemokine signaling pathway42Chemokine signaling pathway42Chemokine signaling pathway42Chemokine signaling pathway42E3 ubiquitin ligases ubiquitinate target proteinsProteinfolding122140Costimulation by the CD28 family158ProteinfoldingCostimulation by the CD28 family140Proteinfolding158140Proteinfolding140FamilialHyperlipidemiatype 195Proteinfolding140Costimulation by the CD28 family158Costimulation by the CD28 family158Proteinfolding140Protein Folding140Costimulation by the CD28 family158Proteinfolding140G protein signaling pathways178Proteinfolding140FamilialHyperlipidemiatype 195G protein signaling pathways178Costimulation by the CD28 family158Proteinfolding140Proteinfolding140Proteinfolding140Brain-derived neurotrophic factor (BDNF) signaling pathwayProteinfolding140Proteinfolding140FamilialHyperlipidemiatype 195Protein Folding140FamilialHyperlipidemiatype 195Protein Folding140Protein Folding140RNA Polymerase II Transcription88RAF/MAP kinase cascade34Protein Folding140Brain-derived neurotrophic factor (BDNF) signaling pathwayRAF/MAP kinase cascade34FamilialHyperlipidemiatype 195Protein Folding140


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Overview of the 17q12 copy number variation syndrome, showing the involved genes, their pathways, and downstream events.

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  171. Robert L. Strausberg, Elise A. Feingold, Lynette H. Grouse, Jeffery G. Derge, Richard D. Klausner, Francis S. Collins, Lukas Wagner, Carolyn M. Shenmen, Gregory D. Schuler, Stephen F. Altschul, Barry Zeeberg, Kenneth H. Buetow, Carl F. Schaefer, Narayan K. Bhat, Ralph F. Hopkins, Heather Jordan, Troy Moore, Steve I. Max, Jun Wang, Florence Hsieh, Luda Diatchenko, Kate Marusina, Andrew A. Farmer, Gerald M. Rubin, Ling Hong, Mark Stapleton, M. Bento Soares, Maria F. Bonaldo, Tom L. Casavant, Todd E Scheetz, Michael J. Brownstein, Ted B. Usdin, Shiraki Toshiyuki, Piero Carninci, Christa Prange, Sam S. Raha, Naomi A. Loquellano, Garrick J. Peters, Rick D. Abramson, Sara J. Mullahy, Stephanie A. Bosak, Paul J. McEwan, Kevin J. McKernan, Joel A. Malek, Preethi H. Gunaratne, Stephen Richards, Kim C. Worley, Sarah Hale, Angela M. Garcia, Laura J. Gay, Stephen W. Hulyk, Debbie K. Villalon, Donna M. Muzny, Erica J. Sodergren,, Xiuhua Lu, Richard A. Gibbs, Jessica Fahey, Erin Helton, Mark Ketteman, Anuradha Madan, Stephanie Rodrigues, Amy Sanchez, Michelle Whiting, Anup Madan, Alice C. Young, Yuriy Shevchenko, Gerard G. Bouffard, Robert W. Blakesley, Jeffrey W. Touchman, Eric D. Green, Mark C. Dickson, Alex C Rodriguez, Jane Grimwood, Jeremy Schmutz, Richard M. Myers, Yaron S. N. Butterfield, Martin I. Krzywinski, Ursula Skalska, Duane E. Smailus, Angelique Schnerch, Jacqueline E. Schein, Steven J. M. Jones, Marco A. Marra, Mammalian Gene Collection Program Team; ''Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.''; , 2002 PubMed Europe PMC Scholia
  172. Anabelle Decottignies; ''Alternative end-joining mechanisms: a historical perspective''; WikiPathway, 2013 PubMed Europe PMC Scholia
  173. M. Linnebank, F. Lagler, A. C. Muntau,, W. Röschinger, B. Olgemöller, B. Fowler, H. G. Koch; ''Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases''; WikiPathways, 2005 PubMed Europe PMC Scholia
  174. Cartwright R., Dunn A.M., Simpson P.J., Tambini C.E., Thacker J.; ''Isolation of novel human and mouse genes of the recA/RAD51 recombination- repair gene family.''; UniProt, 1998 PubMed Europe PMC Scholia
  175. Laszlo Nagy, Roland Schüle, Hinrich Gronemeyer; ''Twenty years of nuclear receptors: Conference on Nuclear Receptors: from Chromatin to Disease''; WikiPathways, 2006 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
134488view03:23, 22 July 2024EweitzOntology Term : 'chromosome 17q12 duplication syndrome' added !
134487view03:23, 22 July 2024EweitzOntology Term : 'chromosome 17q12 deletion syndrome' added !
134486view03:22, 22 July 2024EweitzFix node label truncation, standardize case
134485view03:17, 22 July 2024EweitzFix node label truncation, standardize case
134391view19:24, 21 July 2024EweitzRemove template comments
126824view11:19, 25 June 2023EgonwConverted graphical lines to be that in the GPML too
126823view11:11, 25 June 2023EgonwModified description
124559view16:10, 8 November 2022FehrhartOntology Term : 'disease pathway' added !
124461view07:51, 29 October 2022EgonwMade four more pathways clickable
124350view05:08, 19 October 2022EgonwRemoved whitespace in the pubmed id
124349view05:05, 19 October 2022EgonwMade many pathways clickable
124187view04:40, 26 September 2022EgonwUpdated the UniProt data sources
124184view12:25, 25 September 2022JulietaCostaNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
SLFN14GeneProductENSG00000236320 (Ensembl)
39S ribosomal

protein L45,

mitochondrial		ProteinQ9BRJ2 (Uniprot-TrEMBL)
60S ribosomal protein L23ProteinP62829 (Uniprot-TrEMBL)
AATFGeneProductENSG00000275700 (Ensembl)
ACACAGeneProductENSG00000278540 (Ensembl)
AP-2 complex subunit betaProteinP63010 (Uniprot-TrEMBL)
AP2B1GeneProductENSG00000006125 (Ensembl)
ARHGAP23GeneProductENSG00000275832 (Ensembl)
ARL5CGeneProductENSG00000141748 (Ensembl)
ASIC2 GeneProductENSG00000108684 (Ensembl) Chromosomal Location 17q11.2-q12
Acetyl-CoA carboxylase 1 ProteinQ13085 (Uniprot-TrEMBL)
Acid-sensing ion channel 2ProteinQ16515 (Uniprot-TrEMBL) Cation channel with high affinity for sodium
Brain-derived

neurotrophic factor (BDNF) signaling

pathway		PathwayWP2380 (WikiPathways)
Brain-derived

neurotrophic factor

(BDNF) signaling pathway		PathwayWP2380 (WikiPathways)
C-C motif chemokine 13ProteinQ99616 (Uniprot-TrEMBL)
C-C motif chemokine 14ProteinQ16627 (Uniprot-TrEMBL)
C-C motif chemokine 15ProteinQ16663 (Uniprot-TrEMBL)
C-C motif chemokine 16 ProteinO15467 (Uniprot-TrEMBL)
C-C motif chemokine 18ProteinP55774 (Uniprot-TrEMBL)
C-C motif chemokine 1ProteinP22362 (Uniprot-TrEMBL)
C-C motif chemokine 2ProteinP13500 (Uniprot-TrEMBL) Biological process: Inflammatory response & Chemotaxis
C-C motif chemokine 3-like 1ProteinP16619 (Uniprot-TrEMBL)
C-C motif chemokine 3ProteinP10147 (Uniprot-TrEMBL)
C-C motif chemokine 4-like ProteinQ8NHW4 (Uniprot-TrEMBL)
C-C motif chemokine 4ProteinP13236 (Uniprot-TrEMBL)
C-C motif chemokine 5 ProteinP13501 (Uniprot-TrEMBL)
C-C motif chemokine 7ProteinP80098 (Uniprot-TrEMBL)
C-C motif chemokine 8ProteinP80075 (Uniprot-TrEMBL)
C17orf50GeneProductENSG00000270806 (Ensembl)
C17orf78 GeneProductENSG00000278505 (Ensembl)
C17orf98GeneProductENSG00000275489 (Ensembl)
CACNB1GeneProductENSG00000067191 (Ensembl)
CCL11 GeneProductENSG00000172156 (Ensembl)
CCL13GeneProductENSG00000181374 (Ensembl)
CCL14GeneProductENSG00000276409 (Ensembl)
CCL15GeneProductENSG00000275718 (Ensembl)
CCL16GeneProductENSG00000275152 (Ensembl)
CCL18GeneProductENSG00000275385 (Ensembl)
CCL1GeneProductENSG00000108702 (Ensembl)
CCL2GeneProductENSG00000108691 (Ensembl)
CCL3GeneProductENSG00000277632 (Ensembl)
CCL3L1GeneProductENSG00000276085 (Ensembl)
CCL4GeneProductENSG00000275302 (Ensembl)
CCL4L2GeneProductENSG00000276070 (Ensembl)
CCL5GeneProductENSG00000271503 (Ensembl)
CCL7GeneProductENSG00000108688 (Ensembl)
CCL8GeneProductENSG00000108700 (Ensembl)
CCT6BGeneProductENSG00000132141 (Ensembl)
CDGSH iron-sulfur

domain-containing

protein 3, mitochondrial 		ProteinP0C7P0 (Uniprot-TrEMBL)
CDK12GeneProductENSG00000167258 (Ensembl)
CISD3GeneProductENSG00000277972 (Ensembl)
CWC25GeneProductENSG00000273559 (Ensembl)
Chemokine

signaling

pathway		PathwayWP3929 (WikiPathways)
Class I peroxisomal

membrane protein

import		PathwayWP4987 (WikiPathways)
Costimulation

by the

CD28 family		PathwayWP1799 (WikiPathways)
Cyclin-dependent kinase 12 ProteinQ9NYV4 (Uniprot-TrEMBL)
DDX52GeneProductENSG00000278053 (Ensembl)
DHRS11GeneProductENSG00000278535 (Ensembl)
DNA ligase 3 ProteinP49916 (Uniprot-TrEMBL)
DNA repair pathwaysPathwayWP4946 (WikiPathways)
DNA repair protein RAD51 homolog 4ProteinO75771 (Uniprot-TrEMBL)
DNA replicationPathwayWP466 (WikiPathways)
DUSP14GeneProductENSG00000276023 (Ensembl)
Degradation of

beta-catenin by the destruction

complex 		PathwayWP2773 (WikiPathways)
Dehydrogenase/

reductase

SDR family member 11		ProteinQ6UWP2 (Uniprot-TrEMBL)
Dual specificity

protein

phosphatase 14		ProteinO95147 (Uniprot-TrEMBL)
E3 ubiquitin

ligases ubiquitinate

target proteins		PathwayWP4055 (WikiPathways)
E3 ubiquitin-protein ligase rififylinProteinQ8WZ73 (Uniprot-TrEMBL)
EGFR tyrosine

kinase inhibitor

resistance		PathwayWP4806 (WikiPathways)
EPOPGeneProductENSG00000273604 (Ensembl)
ERBB2GeneProductENSG00000141736 (Ensembl)
Elongin BC and Polycomb

repressive complex 2-associated

protein		ProteinA6NHQ4 (Uniprot-TrEMBL)
EotaxinProteinP51671 (Uniprot-TrEMBL)
F-box only protein 47ProteinQ5MNV8 (Uniprot-TrEMBL)
F-box/LRR- repeat protein 20ProteinQ96IG2 (Uniprot-TrEMBL)
FBXL20GeneProductENSG00000108306 (Ensembl)
FBXO47GeneProductENSG00000204952 (Ensembl)
FNDC8GeneProductENSG00000073598 (Ensembl)
Factors and pathways

affecting insulin-like growth factor (IGF1)-Akt

signaling		PathwayWP3850 (WikiPathways)
Familial

Hyperlipidemia

type 1		PathwayWP5108 (WikiPathways)
Familial

hyperlipidemia

type 1		PathwayWP5108 (WikiPathways)
Familial

hyperlipidemia

type 3 		PathwayWP5110 (WikiPathways)
Fibronectin type III

domain-containing

protein 8		ProteinQ8TC99 (Uniprot-TrEMBL)
G protein

signaling

pathways		PathwayWP35 (WikiPathways)
G-protein beta gamma signalingPathwayWP4428 (WikiPathways)
GAS2-like protein 2ProteinQ8NHY3 (Uniprot-TrEMBL)
GAS2L2GeneProductENSG00000270765 (Ensembl)
GGNBP2GeneProductENSG00000278311 (Ensembl)
GPR179GeneProductENSG00000277399 (Ensembl)
GRB7GeneProductENSG00000141738 (Ensembl)
Gametogenetin-binding protein 2ProteinQ9H3C7 (Uniprot-TrEMBL)
Gamma-glutamyl

cycle for the biosynthesis and degradation of glutathione,

including diseases		PathwayWP4518 (WikiPathways)
GeneGeneProduct
Growth factor receptor-bound protein 7 ProteinQ14451 (Uniprot-TrEMBL)
HEATR9GeneProductENSG00000270379 (Ensembl)
HNF1BGeneProductENSG00000275410 (Ensembl)
Hepatitis B infectionPathwayWP4666 (WikiPathways)
Hepatocyte growth factor receptor signalingPathwayWP313 (WikiPathways)
Hepatocyte nuclear factor 1-betaProteinP35680 (Uniprot-TrEMBL)
Host

Interactions

of HIV factors		PathwayWP2684 (WikiPathways)
IKZF3GeneProductENSG00000161405 (Ensembl)
Interactome of

polycomb repressive

complex 2 (PRC2)		PathwayWP2916 (WikiPathways)
Ion channel transport PathwayWP4098 (WikiPathways)
LASP1GeneProductENSG00000002834 (Ensembl)
LHX1GeneProductENSG00000273706 (Ensembl)
LIG3GeneProductENSG00000005156 (Ensembl)
LIM and SH3 domain protein 1 ProteinQ14847 (Uniprot-TrEMBL)
LIM/homeobox protein Lhx1 ProteinP48742 (Uniprot-TrEMBL)
LYZL6GeneProductENSG00000275722 (Ensembl)
Lysozyme-like protein 6 ProteinO75951 (Uniprot-TrEMBL)
MED1GeneProductENSG00000125686 (Ensembl)
MIEN1GeneProductENSG00000141741 (Ensembl)
MLLT6GeneProductENSG00000275023 (Ensembl)
MMP28GeneProductENSG00000271447 (Ensembl)
MRM1GeneProductENSG00000278619 (Ensembl)
MRPL45GeneProductENSG00000278845 (Ensembl)
MYO19GeneProductENSG00000278259 (Ensembl)
Matrix metalloproteinase-28ProteinQ9H239 (Uniprot-TrEMBL)
Mediator of RNA polymerase II transcription subunit 1 ProteinQ15648 (Uniprot-TrEMBL)
Methionine metabolism

leading to sulfur amino

acids and related disorders		PathwayWP4292 (WikiPathways)
Migration and invasion enhancer 1ProteinQ9BRT3 (Uniprot-TrEMBL)
Mitochondrial

iron-sulfur

cluster biogenesis 		PathwayWP2702 (WikiPathways)
Mitochondrial protein importPathwayWP2717 (WikiPathways)
NEUROD2GeneProductENSG00000171532 (Ensembl)
NLE1GeneProductENSG00000073536 (Ensembl)
NRF2 pathway PathwayWP2884 (WikiPathways)
Neurogenic differentiation factor 2ProteinQ15784 (Uniprot-TrEMBL)
Notchless protein homolog 1 ProteinQ9NVX2 (Uniprot-TrEMBL)
Nuclear receptorsPathwayWP170 (WikiPathways)
PCGF2GeneProductENSG00000277258 (Ensembl)
PEX12GeneProductENSG00000108733 (Ensembl)
PGAP3GeneProductENSG00000161395 (Ensembl)
PIGWGeneProductENSG00000277161 (Ensembl)
PIP4K2BGeneProductENSG00000276293 (Ensembl)
PLXDC1GeneProductENSG00000161381 (Ensembl)
PNMTGeneProductENSG00000141744 (Ensembl)
PPP1R1BGeneProductENSG00000131771 (Ensembl)
PathwayPathway
Peroxisomal lipid metabolismPathwayWP1878 (WikiPathways)
Peroxisomal protein import PathwayWP4442 (WikiPathways)
Peroxisome assembly protein 12ProteinO00623 (Uniprot-TrEMBL)
Phenylethanolamine N-methyltransferase ProteinP11086 (Uniprot-TrEMBL)
Phosphatidylinositol

5-phosphate 4-kinase

type-2 beta		ProteinP78356 (Uniprot-TrEMBL)
Phosphatidylinositol-glycan biosynthesis class W proteinProteinQ7Z7B1 (Uniprot-TrEMBL)
Plexin

domain-containing

protein 1 		ProteinQ8IUK5 (Uniprot-TrEMBL)
Polycomb group RING finger protein 2ProteinP35227 (Uniprot-TrEMBL)
Post-GPI attachment to proteins factor 3 ProteinQ96FM1 (Uniprot-TrEMBL)
Pre-mRNA-splicing factor CWC25 homolog ProteinQ9NXE8 (Uniprot-TrEMBL)
Presynaptic

depolarization and calcium

channel opening		PathwayWP1800 (WikiPathways)
Probable

ATP-dependent

RNA helicase DDX52		ProteinQ9Y2R4 (Uniprot-TrEMBL)
Probable G-protein coupled receptor 179ProteinQ6PRD1 (Uniprot-TrEMBL)
Prolactin receptor signalingPathwayWP2678 (WikiPathways)
ProteinProtein
Protein foldingPathwayWP1892 (WikiPathways) Interact with molecular chaperones to attain their native conformation.
Protein FoldingPathwayWP1892 (WikiPathways) Interact with molecular chaperones to attain their native conformation.
Protein foldingPathwayWP1892 (WikiPathways) Interact with molecular chaperones to attain their native conformation.
Protein AATF ProteinQ9NY61 (Uniprot-TrEMBL)
Protein AF-17ProteinP55198 (Uniprot-TrEMBL)
Protein HEATR9ProteinA2RTY3 (Uniprot-TrEMBL)
Protein SLFN14ProteinP0C7P3 (Uniprot-TrEMBL)
Protein phosphatase 1 regulatory subunit 1BProteinQ9UD71 (Uniprot-TrEMBL)
Protein unc-45 homolog BProteinQ8IWX7 (Uniprot-TrEMBL)
Putative

ADP-ribosylation

factor-like protein 5C		ProteinA6NH57 (Uniprot-TrEMBL)
RAD51D GeneProductENSG00000185379 (Ensembl)
RAD52

motif-containing

protein 1		ProteinQ8NG50 (Uniprot-TrEMBL)
RAF/MAP kinase cascadePathwayWP2735 (WikiPathways)
RASL10BGeneProductENSG00000270885 (Ensembl)
RDM1GeneProductENSG00000278023 (Ensembl)
RFFLGeneProductENSG00000092871 (Ensembl)
RNA Polymerase II TranscriptionPathwayWP1906 (WikiPathways)
RPL23GeneProductENSG00000125691 (Ensembl)
Ras-like protein family member 10BProteinQ96S79 (Uniprot-TrEMBL)
Receptor

tyrosine-protein

kinase erbB-2		ProteinP04626 (Uniprot-TrEMBL)
Rho GTPase-activating protein 23ProteinQ9P227 (Uniprot-TrEMBL)
Ribonuclease SLFN12ProteinQ8IYM2 (Uniprot-TrEMBL)
SH3 and cysteine-rich domain-containing protein 2 ProteinQ6ZMT1 (Uniprot-TrEMBL)
SLC35G3GeneProductENSG00000164729 (Ensembl)
SLFN11GeneProductENSG00000172716 (Ensembl)
SLFN12GeneProductENSG00000172123 (Ensembl)
SLFN13GeneProductENSG00000154760 (Ensembl)
SLFN5GeneProductENSG00000166750 (Ensembl)
SOCS7GeneProductENSG00000274211 (Ensembl)
SRC kinase signaling inhibitor 1ProteinQ9C0H9 (Uniprot-TrEMBL)
SRCIN1GeneProductENSG00000277363 (Ensembl)
STAC2GeneProductENSG00000141750 (Ensembl)
STARD3GeneProductENSG00000131748 (Ensembl)
SYNRGGeneProductENSG00000275066 (Ensembl)
Schlafen family member 13ProteinQ68D06 (Uniprot-TrEMBL)
Schlafen family member 11ProteinQ7Z7L1 (Uniprot-TrEMBL)
Schlafen family member 5ProteinQ08AF3 (Uniprot-TrEMBL)
Solute carrier family 35 member G3ProteinQ8N808 (Uniprot-TrEMBL)
StAR-related lipid transfer protein 3 ProteinQ14849 (Uniprot-TrEMBL)
Suppressor of cytokine signaling 7 ProteinO14512 (Uniprot-TrEMBL)
Synergin gammaProteinQ9UMZ2 (Uniprot-TrEMBL)
T-complex protein 1 subunit zeta-2 ProteinQ92526 (Uniprot-TrEMBL)
TADA2AGeneProductENSG00000276234 (Ensembl)
TAF15GeneProductENSG00000270647 (Ensembl)
TATA-binding

protein-associated

factor 2N		ProteinQ92804 (Uniprot-TrEMBL)
TBC1 domain family member 3BProteinA6NDS4 (Uniprot-TrEMBL)
TBC1 domain family member 3CProteinQ6IPX1 (Uniprot-TrEMBL)
TBC1 domain family member 3G ProteinQ6DHY5 (Uniprot-TrEMBL)
TBC1 domain family member 3HProteinP0C7X1 (Uniprot-TrEMBL)
TBC1 domain family member 3IProteinA0A087WXS9 (Uniprot-TrEMBL)
TBC1 domain family member 3KProteinA0A087X1G2 (Uniprot-TrEMBL)
TBC1 domain family member 3LProteinB9A6J9 (Uniprot-TrEMBL)
TBC1 domain family member 3ProteinQ8IZP1 (Uniprot-TrEMBL)
TBC1D3BGeneProductENSG00000274808 (Ensembl)
TBC1D3CGeneProductENSG00000278299 (Ensembl)
TBC1D3GeneProductENSG00000274611 (Ensembl)
TBC1D3GGeneProductENSG00000260287 (Ensembl)
TBC1D3HGeneProductENSG00000274226 (Ensembl)
TBC1D3IGeneProductENSG00000274933 (Ensembl)
TBC1D3KGeneProductENSG00000273513 (Ensembl)
TBC1D3LGeneProductENSG00000274512 (Ensembl)
TCAPGeneProductENSG00000173991 (Ensembl)
TECGeneProductENSG00000279119 (Ensembl) This gene does not contain any transcripts
TLK2P1 GeneProductENSG00000226049 (Ensembl) Also known as: HUAT, LGALS9A
TMEM132E-DTProteinA2RUQ5 (Uniprot-TrEMBL) Uncharacterized protein
TMEM132E-DTGeneProductENSG00000197322 (Ensembl)
TMEM132EGeneProductENSG00000181291 (Ensembl)
Telethonin ProteinO15273 (Uniprot-TrEMBL)
Transcriptional adapter 2-alphaProteinO75478 (Uniprot-TrEMBL)
Transmembrane protein 132EProteinQ6IEE7 (Uniprot-TrEMBL)
Tyrosine-protein kinase Tec ProteinP42680 (Uniprot-TrEMBL)
UNC45BGeneProductENSG00000141161 (Ensembl)
Uncharacterized protein C17orf50ProteinQ8WW18 (Uniprot-TrEMBL)
Uncharacterized protein C17orf78 ProteinQ8N4C9 (Uniprot-TrEMBL)
Uncharacterized protein C17orf98ProteinA8MV24 (Uniprot-TrEMBL)
Unconventional myosin-XIXProteinQ96H55 (Uniprot-TrEMBL)
Voltage-dependent

L-type calcium

channel subunit beta-1		ProteinQ02641 (Uniprot-TrEMBL)
ZNF830GeneProductENSG00000198783 (Ensembl)
ZNHIT3GeneProductENSG00000273611 (Ensembl)
Zinc finger protein 830 ProteinQ96NB3 (Uniprot-TrEMBL)
Zinc finger HIT

domain-containing

protein 3		ProteinQ15649 (Uniprot-TrEMBL)
Zinc finger protein Aiolos ProteinQ9UKT9 (Uniprot-TrEMBL)
p53 transcriptional gene networkPathwayWP4963 (WikiPathways)
rRNA

methyltransferase

1, mitochondrial 		ProteinQ6IN84 (Uniprot-TrEMBL)
rRNA modification in the mitochondrionPathwayWP4099 (WikiPathways)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5287"
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