17q12 copy number variation syndrome (Homo sapiens)

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chr17: 33,500,001Centromerechr17: 39,800,000Deleted Genes on 17q12 Microdeletion SyndromeCDGSH iron-sulfur domain-containing protein 3, mitochondrial Class I peroxisomal membrane protein importUncharacterized protein C17orf50NRF2 pathway C-C motif chemokine 1Ribonuclease SLFN12CCL4CWC25C-C motif chemokine 4Notchless protein homolog 1 CCL1PGAP3Gametogenetin-binding protein 2STARD3EotaxinStAR-related lipid transfer protein 3 Lysozyme-like protein 6 C-C motif chemokine 5 Costimulation by the CD28 familyLIM/homeobox protein Lhx1 Probable ATP-dependentRNA helicase DDX52TECRas-like proteinfamily member 10BCCL16HEATR9TBC1 domain family member 3LCCL14Protein AATF RAD51D Brain-derived neurotrophic factor (BDNF) signaling pathwayZinc finger HIT domain-containing protein 3LIM and SH3 domain protein 1 TMEM132E-DTrRNA modification in the mitochondrionProtein FoldingPLXDC1C-C motif chemokine 3-like 1SOCS7Pre-mRNA-splicing factor CWC25 homolog SH3 and cysteine-rich domain-containing protein 2 TBC1D3CCCL8TBC1 domain family member 3HDNA repair protein RAD51 homolog 4C-C motif chemokine 15RNA Polymerase II TranscriptionTMEM132ETMEM132E-DTACACAPost-GPI attachment to proteins factor 3 CCL15Hepatitis B infectionPutative ADP-ribosylation factor-like protein 5CPEX12Elongin BC and Polycomb repressive complex 2-associated proteinCCL4L2Methionine metabolism leading to sulfur aminoacids and related disordersPNMTASIC2 Hepatocyte nuclearfactor 1-betaFamilial Hyperlipidemia type 3 Mitochondrial iron-sulfur cluster biogenesis Protein phosphatase 1 regulatory subunit 1BLIG3MIEN1RASL10BPIGWTCAPGAS2L2GRB7TBC1 domain family member 3Protein unc-45 homolog BPeroxisomal protein import TADA2AC17orf78 TBC1D3IC-C motif chemokine 4-like PIP4K2BIon ChannelTransport AP2B1GeneFactors and pathways affecting insulin-like growth factor (IGF1)-Akt signalingFNDC8Presynaptic depolarizationand calciumchannel openingProbable G-protein coupled receptor 179Degradation of beta-catenin by the destruction complex LYZL6EGFR tyrosine kinase inhibitor resistanceRAF/MAP kinase cascadeF-box only protein 47TBC1D3LDUSP14E3 ubiquitin-protein ligase rififylinAcetyl-CoA carboxylase 1 Dehydrogenase/reductase SDR family member 11Protein SLFN14LASP1FamilialHyperlipidemiatype 1Phosphatidylinositol 5-phosphate 4-kinase type-2 beta60S ribosomal protein L23TBC1 domain family member 3BSchlafen family member 5CISD3TBC1D3BPPP1R1BZinc finger protein 830 Mitochondrial protein importTBC1D3HC-C motif chemokine 13MMP28RFFLTBC1D3KSRC kinase signaling inhibitor 1C-C motif chemokine 3CCL11 Transmembrane protein 132EProteinLHX1DDX52Hepatocyte growth factor receptor signalingERBB2GPR179Fibronectin type III domain-containing protein 8Mediator of RNA polymerase II transcription subunit 1 Schlafen familymember 13Tyrosine-protein kinase Tec ARHGAP23G protein signaling pathwaysMatrix metalloproteinase-28RDM1C-C motif chemokine 14C-C motif chemokine 2MLLT6CCL18ZNHIT3SLFN13RAD52 motif-containing protein 1Cyclin-dependent kinase 12 Brain-derived neurotrophic factor (BDNF) signaling pathwayPeroxisome assembly protein 12Uncharacterized protein C17orf78 GAS2-like protein 2CCL5Zinc finger protein Aiolos MED1SLFN11MYO19TBC1 domain family member 3G Transcriptional adapter 2-alphaCCL13MRM1CACNB1SLFN12Uncharacterized protein C17orf98TBC1 domain family member 3CDNA Repair PathwaysNLE1CCL3L1GGNBP2ZNF830Rho GTPase-activating protein 23Voltage-dependent L-type calcium channel subunit beta-1EPOPSchlafen family member 11NEUROD2Protein HEATR9Receptortyrosine-protein kinase erbB-2FBXO47ARL5C39S ribosomal protein L45, mitochondrialDNA ReplicationCCT6BPolycomb group RING finger protein 2IKZF3Synergin gammaTBC1D3GDNA ligase 3 FBXL20DHRS11 SLFN14CCL3PCGF2HostInteractions of HIV factorsNuclear receptorsTBC1 domain family member 3KSuppressor of cytokine signaling 7 C17orf50TBC1D3SLFN5Interactome of polycomb repressive complex 2 (PRC2)Plexin domain-containing protein 1 UNC45BPeroxisomallipid metabolismPathwayC-C motif chemokine 7Growth factor receptor-bound protein 7 Acid-sensing ion channel 2Phosphatidylinositol-glycan biosynthesis class W proteinAP-2 complex subunit betaMRPL45rRNA methyltransferase1, mitochondrial Dual specificity protein phosphatase 14SYNRGAATFTATA-binding protein-associated factor 2NSLC35G3C17orf98Solute carrier family 35 member G3C-C motif chemokine 18Migration and invasion enhancer 1Telethonin p53 transcriptional gene networkCDK12Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseasesNeurogenic differentiation factor 2Unconventional myosin-XIXT-complex protein 1 subunit zeta-2 F-box/LRR-repeat protein 20Phenylethanolamine N-methyltransferase G-protein betagamma signalingC-C motif chemokine 16 CCL7HNF1BC-C motif chemokine 8Protein AF-17TBC1 domain family member 3ISRCIN1RPL23Prolactin receptor signalingSTAC2TAF158414363, 1291084523921717112314029, 8513016623142561192398, 12411415915, 1985211754328581676970100150685469, 741052350, 125101452648941541541493122, 152148831271547614615695, 1381451771551885, 128, 151261131361601561541410339, 12410101127129231171734780171235123106, 1122330417, 102145136, 16922, 5262167023751528549735522310751, 1642323665911871513090351546513721, 161154TLK2P1 911541655024119771385489154146238611157, 13260, 1605927, 141238, 140, 15813617066812117, 157232334, 1311542385, 15167, 78, 17844, 45174147102121482, 9691341532325, 72, 126231731312411523361541353387, 9153, 1161381451541202361163371708897791549316810414458, 1762017238, 81, 110, 15092, 16214864, 139, 1674015714415410942CCL2133Chemokine Signaling Pathway99Chemokine Signaling Pathway99Chemokine Signaling Pathway99Chemokine Signaling Pathway99Chemokine Signaling Pathway99Chemokine Signaling Pathway99E3 ubiquitin ligases ubiquitinate target proteins31Protein Folding86Costimulation by the CD28 family94Protein FoldingCostimulation by the CD28 family86Protein Folding9486Protein Folding86FamilialHyperlipidemiatype 128Protein Folding86Costimulation by the CD28 family94Costimulation by the CD28 family94Protein Folding86Protein Folding86Costimulation by the CD28 family94Protein Folding86G protein signaling pathways101Protein Folding86FamilialHyperlipidemiatype 128G protein signaling pathways101Costimulation by the CD28 family94Protein Folding86Protein Folding86Protein Folding86Brain-derived neurotrophic factor (BDNF) signaling pathwayProtein Folding86Protein Folding86FamilialHyperlipidemiatype 128Protein Folding86FamilialHyperlipidemiatype 128Protein Folding86Protein Folding86RNA Polymerase II Transcription90RAF/MAP kinase cascade142Protein Folding86Brain-derived neurotrophic factor (BDNF) signaling pathwayRAF/MAP kinase cascade142FamilialHyperlipidemiatype 128Protein Folding86


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17q12 copy number variaton syndrome

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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
  176. Garcia-Zepeda E.A., Combadiere C., Rothenberg M.E., Sarafi M.N., Lavigne F., Hamid Q., Murphy P.M., Luster A.D.; ''Human monocyte chemoattractant protein (MCP)-4 is a novel CC chemokine with activities on monocytes, eosinophils, and basophils induced in allergic and nonallergic inflammation that signals through the CC chemokine receptors (CCR)-2 and -3.''; Uniprot, 1996 PubMed Europe PMC Scholia
  177. F. Morohoshi, K. Arai, E. I. Takahashi, A. Tanigami, M. Ohki; ''Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins.''; , 1996 PubMed Europe PMC Scholia
  178. L. Stryer, H. R. Bourne; ''G proteins: a family of signal transducers''; WikiPathway, 1986 PubMed Europe PMC Scholia

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 Repair PathwaysPathwayWP4946 (WikiPathways)
DNA ReplicationPathwayWP466 (WikiPathways)
DNA ligase 3 ProteinP49916 (Uniprot-TrEMBL)
DNA repair protein RAD51 homolog 4ProteinO75771 (Uniprot-TrEMBL)
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 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 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
  • Type your comment here
TLK2P1 GeneProductENSG00000226049 (Ensembl) Also known as: HUAT, LGALS9A
TMEM132E-DTProteinA2RUQ5 (Uniprot-TrEMBL)
  • Uncharacterized protein
  • Type your comment here
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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