Pathways > 17q12 copy number variation syndrome
Page last updated: 2024-10-06

17q12 copy number variation syndrome

Proteins (98)

ProteinSynonymsTaxonomy
Zinc finger protein AiolosIkaros family zinc finger protein 3Homo sapiens (human)
C-C motif chemokine 7Monocyte chemoattractant protein 3; Monocyte chemotactic protein 3; MCP-3; NC28; Small-inducible cytokine A7Homo sapiens (human)
Receptor tyrosine-protein kinase erbB-2EC 2.7.10.1; Metastatic lymph node gene 19 protein; MLN 19; Proto-oncogene Neu; Proto-oncogene c-ErbB-2; Tyrosine kinase-type cell surface receptor HER2; p185erbB2Homo sapiens (human)
60S ribosomal protein L2360S ribosomal protein L17; Large ribosomal subunit protein uL14Homo sapiens (human)
Phosphatidylinositol 5-phosphate 4-kinase type-2 betaEC 2.7.1.149; 1-phosphatidylinositol 5-phosphate 4-kinase 2-beta; Diphosphoinositide kinase 2-beta; Phosphatidylinositol 5-phosphate 4-kinase type II beta; PI(5)P 4-kinase type II beta; PIP4KII-beta; PtdIns(5)P-4-kinase isoform 2-betaHomo sapiens (human)
Phosphatidylinositol-glycan biosynthesis class W proteinPIG-W; EC 2.3.-.-Homo sapiens (human)
Voltage-dependent L-type calcium channel subunit beta-1CAB1; Calcium channel voltage-dependent subunit beta 1Homo sapiens (human)
Dual specificity protein phosphatase 14EC 3.1.3.16; EC 3.1.3.48; MKP-1-like protein tyrosine phosphatase; MKP-L; Mitogen-activated protein kinase phosphatase 6; MAP kinase phosphatase 6; MKP-6Homo sapiens (human)
Tyrosine-protein kinase TecEC 2.7.10.2Homo sapiens (human)
Acetyl-CoA carboxylase 1ACC1; EC 6.4.1.2; Acetyl-Coenzyme A carboxylase alpha; ACC-alphaHomo sapiens (human)
DNA ligase 3EC 6.5.1.1; DNA ligase III; Polydeoxyribonucleotide synthase [ATP] 3Homo sapiens (human)
C-C motif chemokine 5EoCP; Eosinophil chemotactic cytokine; SIS-delta; Small-inducible cytokine A5; T cell-specific protein P228; TCP228; T-cell-specific protein RANTESHomo sapiens (human)
Growth factor receptor-bound protein 7B47; Epidermal growth factor receptor GRB-7; GRB7 adapter proteinHomo sapiens (human)
SRC kinase signaling inhibitor 1SNAP-25-interacting protein; SNIP; p130Cas-associated protein; p140CapHomo sapiens (human)
C-C motif chemokine 3G0/G1 switch regulatory protein 19-1; Macrophage inflammatory protein 1-alpha; MIP-1-alpha; PAT 464.1; SIS-beta; Small-inducible cytokine A3; Tonsillar lymphocyte LD78 alpha proteinHomo sapiens (human)
C-C motif chemokine 4G-26 T-lymphocyte-secreted protein; HC21; Lymphocyte activation gene 1 protein; LAG-1; MIP-1-beta(1-69); Macrophage inflammatory protein 1-beta; MIP-1-beta; PAT 744; Protein H400; SIS-gamma; Small-inducible cytokine A4; T-cell activation protein 2; ACT-2Homo sapiens (human)
StAR-related lipid transfer protein 3Metastatic lymph node gene 64 protein; MLN 64; Protein CAB1; START domain-containing protein 3; StARD3Homo sapiens (human)
Phenylethanolamine N-methyltransferasePNMTase; EC 2.1.1.28; Noradrenaline N-methyltransferaseHomo sapiens (human)
C-C motif chemokine 2HC11; Monocyte chemoattractant protein 1; Monocyte chemotactic and activating factor; MCAF; Monocyte chemotactic protein 1; MCP-1; Monocyte secretory protein JE; Small-inducible cytokine A2Homo sapiens (human)
Cyclin-dependent kinase 12EC 2.7.11.22; EC 2.7.11.23; Cdc2-related kinase, arginine/serine-rich; CrkRS; Cell division cycle 2-related protein kinase 7; CDC2-related protein kinase 7; Cell division protein kinase 12; hCDK12Homo sapiens (human)
EotaxinC-C motif chemokine 11; Eosinophil chemotactic protein; Small-inducible cytokine A11Homo sapiens (human)
Schlafen family member 5Homo sapiens (human)
Mediator of RNA polymerase II transcription subunit 1Activator-recruited cofactor 205 kDa component; ARC205; Mediator complex subunit 1; Peroxisome proliferator-activated receptor-binding protein; PBP; PPAR-binding protein; Thyroid hormone receptor-associated protein complex 220 kDa component; Trap220; ThyrHomo sapiens (human)
Matrix metalloproteinase-28MMP-28; EC 3.4.24.-; EpilysinHomo sapiens (human)
Suppressor of cytokine signaling 7SOCS-7; Nck, Ash and phospholipase C gamma-binding protein; Nck-associated protein 4; NAP-4Homo sapiens (human)
Neurogenic differentiation factor 2NeuroD2; Class A basic helix-loop-helix protein 1; bHLHa1; NeuroD-related factor; NDRFHomo sapiens (human)
Schlafen family member 13EC 3.1.-.-; Schlafen-13; hSLFN13Homo sapiens (human)
Hepatocyte nuclear factor 1-betaHNF-1-beta; HNF-1B; Homeoprotein LFB3; Transcription factor 2; TCF-2; Variant hepatic nuclear factor 1; vHNF1Homo sapiens (human)
Acid-sensing ion channel 2ASIC2; Amiloride-sensitive brain sodium channel; Amiloride-sensitive cation channel 1, neuronal; Amiloride-sensitive cation channel neuronal 1; Brain sodium channel 1; BNC1; BNaC1; Mammalian degenerin homolog; MDEGHomo sapiens (human)
DNA repair protein RAD51 homolog 4R51H3; RAD51 homolog D; RAD51-like protein 3; TRADHomo sapiens (human)
Ras-like protein family member 10BEC 3.6.5.2; Ras-like protein VTS58635; Ras-related protein 17; RRP17Homo sapiens (human)
RAD52 motif-containing protein 1RAD52 homolog BHomo sapiens (human)
Protein phosphatase 1 regulatory subunit 1BDARPP-32; Dopamine- and cAMP-regulated neuronal phosphoproteinHomo sapiens (human)
Protein AATFApoptosis-antagonizing transcription factor; Rb-binding protein Che-1Homo sapiens (human)
Plexin domain-containing protein 1Tumor endothelial marker 3; Tumor endothelial marker 7Homo sapiens (human)
LIM and SH3 domain protein 1LASP-1; Metastatic lymph node gene 50 protein; MLN 50Homo sapiens (human)
TBC1 domain family member 3IHomo sapiens (human)
TBC1 domain family member 3KHomo sapiens (human)
Protein HEATR9HEAT repeat-containing protein 9Homo sapiens (human)
Uncharacterized protein C17orf102Homo sapiens (human)
TBC1 domain family member 3BHomo sapiens (human)
Putative ADP-ribosylation factor-like protein 5CADP-ribosylation factor-like protein 12Homo sapiens (human)
Elongin BC and Polycomb repressive complex 2-associated proteinProline-rich protein 28Homo sapiens (human)
Uncharacterized protein C17orf98Homo sapiens (human)
TBC1 domain family member 3LHomo sapiens (human)
Peroxisome assembly protein 12Peroxin-12; Peroxisome assembly factor 3; PAF-3Homo sapiens (human)
TelethoninTitin cap proteinHomo sapiens (human)
C-C motif chemokine 16Chemokine CC-4; HCC-4; Chemokine LEC; IL-10-inducible chemokine; LCC-1; Liver-expressed chemokine; Lymphocyte and monocyte chemoattractant; LMC; Monotactin-1; MTN-1; NCC-4; Small-inducible cytokine A16Homo sapiens (human)
Transcriptional adapter 2-alphaTranscriptional adapter 2-like; ADA2-like proteinHomo sapiens (human)
Lysozyme-like protein 6EC 3.2.1.17Homo sapiens (human)
CDGSH iron-sulfur domain-containing protein 3, mitochondrialMitoNEET-related protein 2; Miner2; Mitochondrial inner NEET protein; MiNTHomo sapiens (human)
Protein SLFN14Homo sapiens (human)
TBC1 domain family member 3HHomo sapiens (human)
C-C motif chemokine 3-like 1G0/G1 switch regulatory protein 19-2; LD78-beta(1-70); PAT 464.2; Small-inducible cytokine A3-like 1; Tonsillar lymphocyte LD78 beta proteinHomo sapiens (human)
C-C motif chemokine 1Small-inducible cytokine A1; T lymphocyte-secreted protein I-309Homo sapiens (human)
Polycomb group RING finger protein 2DNA-binding protein Mel-18; RING finger protein 110; Zinc finger protein 144Homo sapiens (human)
LIM/homeobox protein Lhx1LIM homeobox protein 1; Homeobox protein Lim-1; hLim-1Homo sapiens (human)
Protein AF-17ALL1-fused gene from chromosome 17 proteinHomo sapiens (human)
C-C motif chemokine 18Alternative macrophage activation-associated CC chemokine 1; AMAC-1; CC chemokine PARC; Dendritic cell chemokine 1; DC-CK1; Macrophage inflammatory protein 4; MIP-4; Pulmonary and activation-regulated chemokine; Small-inducible cytokine A18Homo sapiens (human)
AP-2 complex subunit betaAP105B; Adaptor protein complex AP-2 subunit beta; Adaptor-related protein complex 2 subunit beta; Beta-2-adaptin; Beta-adaptin; Clathrin assembly protein complex 2 beta large chain; Plasma membrane adaptor HA2/AP2 adaptin beta subunitHomo sapiens (human)
C-C motif chemokine 8HC14; Monocyte chemoattractant protein 2; Monocyte chemotactic protein 2; MCP-2; Small-inducible cytokine A8Homo sapiens (human)
Zinc finger HIT domain-containing protein 3HNF-4a coactivator; Thyroid hormone receptor interactor 3; Thyroid receptor-interacting protein 3; TR-interacting protein 3; TRIP-3Homo sapiens (human)
C-C motif chemokine 14Chemokine CC-1/CC-3; HCC-1/HCC-3; HCC-1(1-74); NCC-2; Small-inducible cytokine A14Homo sapiens (human)
C-C motif chemokine 15Chemokine CC-2; HCC-2; Leukotactin-1; LKN-1; MIP-1 delta; Macrophage inflammatory protein 5; MIP-5; Mrp-2b; NCC-3; Small-inducible cytokine A15Homo sapiens (human)
F-box only protein 47Homo sapiens (human)
TBC1 domain family member 3GHomo sapiens (human)
Transmembrane protein 132EHomo sapiens (human)
rRNA methyltransferase 1, mitochondrialEC 2.1.1.-; 16S rRNA (guanosine(1145)-2'-O)-methyltransferase; 16S rRNA [Gm1145] 2'-O-methyltransferaseHomo sapiens (human)
TBC1 domain family member 3CHomo sapiens (human)
Probable G-protein coupled receptor 179Probable G-protein coupled receptor 158-like 1; GPR158-likeHomo sapiens (human)
Dehydrogenase/reductase SDR family member 1117-beta-hydroxysteroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; 1.1.1.270; Estradiol 17-beta-dehydrogenase; 1.1.1.62; Short-chain dehydrogenase/reductase family 24C member 1Homo sapiens (human)
SH3 and cysteine-rich domain-containing protein 224b2/STAC2; Src homology 3 and cysteine-rich domain-containing protein 2Homo sapiens (human)
Schlafen family member 11EC 3.6.-.-Homo sapiens (human)
Protein unc-45 homolog BUnc-45B; SMUNC45Homo sapiens (human)
Schlafen family member 12Homo sapiens (human)
TBC1 domain family member 3Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17Homo sapiens (human)
Uncharacterized protein C17orf78Homo sapiens (human)
Solute carrier family 35 member G3Acyl-malonyl-condensing enzyme 1; Transmembrane protein 21AHomo sapiens (human)
C-C motif chemokine 4-likeLymphocyte activation gene 1 protein; LAG-1; Macrophage inflammatory protein 1-beta; MIP-1-beta; Monocyte adherence-induced protein 5-alpha; Small-inducible cytokine A4-likeHomo sapiens (human)
GAS2-like protein 2GAS2-related protein on chromosome 17; Growth arrest-specific protein 2-like 2Homo sapiens (human)
Fibronectin type III domain-containing protein 8Homo sapiens (human)
Uncharacterized protein C17orf50Homo sapiens (human)
E3 ubiquitin-protein ligase rififylinEC 2.3.2.27; Caspase regulator CARP2; Caspases-8 and -10-associated RING finger protein 2; CARP-2; FYVE-RING finger protein Sakura; Fring; RING finger and FYVE-like domain-containing protein 1; RING finger protein 189; RING finger protein 34-like; RING-tyHomo sapiens (human)
T-complex protein 1 subunit zeta-2TCP-1-zeta-2; CCT-zeta-2; CCT-zeta-like; TCP-1-zeta-like; Testis-specific Tcp20; Testis-specific protein TSA303Homo sapiens (human)
TATA-binding protein-associated factor 2N68 kDa TATA-binding protein-associated factor; TAF(II)68; TAFII68; RNA-binding protein 56Homo sapiens (human)
Post-GPI attachment to proteins factor 3COS16 homolog; hCOS16; Gene coamplified with ERBB2 protein; PER1-like domain-containing protein 1Homo sapiens (human)
Unconventional myosin-XIXMyosin head domain-containing protein 1Homo sapiens (human)
F-box/LRR-repeat protein 20F-box and leucine-rich repeat protein 20; F-box/LRR-repeat protein 2-likeHomo sapiens (human)
Zinc finger protein 830Coiled-coil domain-containing protein 16Homo sapiens (human)
C-C motif chemokine 13CK-beta-10; Monocyte chemoattractant protein 4; Monocyte chemotactic protein 4; MCP-4; NCC-1; Small-inducible cytokine A13Homo sapiens (human)
39S ribosomal protein L45, mitochondrialL45mt; MRP-L45; Mitochondrial large ribosomal subunit protein mL45Homo sapiens (human)
Migration and invasion enhancer 1HBV X-transactivated gene 4 protein; HBV XAg-transactivated protein 4; Protein C35Homo sapiens (human)
Gametogenetin-binding protein 2Laryngeal carcinoma-related protein 1; Protein ZNF403Homo sapiens (human)
Notchless protein homolog 1Homo sapiens (human)
Pre-mRNA-splicing factor CWC25 homologCoiled-coil domain-containing protein 49; Spliceosome-associated protein homolog CWC25Homo sapiens (human)
Rho GTPase-activating protein 23Rho-type GTPase-activating protein 23Homo sapiens (human)
Synergin gammaAP1 subunit gamma-binding protein 1; Gamma-synerginHomo sapiens (human)
Probable ATP-dependent RNA helicase DDX52EC 3.6.4.13; ATP-dependent RNA helicase ROK1-like; DEAD box protein 52Homo sapiens (human)

Compounds (0)

CompoundDescription