AKAP9 |
A-kinase anchoring protein 9 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
- Anchoring of the basal body to the plasma membrane
- Signaling by BRAF and RAF fusions
- AURKA Activation by TPX2
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
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CASK |
calcium/calmodulin dependent serine protein kinase |
- Dopamine Neurotransmitter Release Cycle
- Syndecan interactions
- Nephrin family interactions
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
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- FG syndrome (FGS); Opitz-Kaveggia syndrome
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CTNNB1 |
catenin beta 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- Misspliced GSK3beta mutants stabilize beta-catenin
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
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DDX11 |
DEAD/H-box helicase 11 |
- XBP1(S) activates chaperone genes
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DMRTB1 |
DMRT like family B with proline rich C-terminal 1 |
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DSC1 |
desmocollin 1 |
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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DSC2 |
desmocollin 2 |
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
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DSG1 |
desmoglein 1 |
- Apoptotic cleavage of cell adhesion proteins
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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- Striate palmoplantar keratoderma
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DSG2 |
desmoglein 2 |
- Apoptotic cleavage of cell adhesion proteins
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
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DSP |
desmoplakin |
- Apoptotic cleavage of cell adhesion proteins
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Naxos disease and Carvajal syndrome
- Striate palmoplantar keratoderma
- Skin fragility-woolly hair syndrome
- Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM); Epidermolysis bullosa simplex, Koebner type (EBS-K); Epidermolysis bullosa simplex, Weber-Cockayne type (EBS-WC); Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP); Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex, recessive; Epidermolysis bullosa, lethal acantholytic
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GTF2IRD1 |
GTF2I repeat domain containing 1 |
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HSPB2 |
heat shock protein family B (small) member 2 |
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ITPR2 |
inositol 1,4,5-trisphosphate receptor type 2 |
- PLC beta mediated events
- Effects of PIP2 hydrolysis
- Elevation of cytosolic Ca2+ levels
- DAG and IP3 signaling
- Role of phospholipids in phagocytosis
- FCERI mediated Ca+2 mobilization
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Ca2+ pathway
- Regulation of insulin secretion
- VEGFR2 mediated cell proliferation
- Ion homeostasis
- Ion homeostasis
- CLEC7A (Dectin-1) induces NFAT activation
- FCGR3A-mediated IL10 synthesis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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JUP |
junction plakoglobin |
- Adherens junctions interactions
- VEGFR2 mediated vascular permeability
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Naxos disease and Carvajal syndrome
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KDM5A |
lysine demethylase 5A |
- HDMs demethylate histones
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KLC4 |
kinesin light chain 4 |
- MHC class II antigen presentation
- RHO GTPases activate KTN1
- COPI-dependent Golgi-to-ER retrograde traffic
- Kinesins
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KRT18 |
keratin 18 |
- Keratinization
- Formation of the cornified envelope
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KRT5 |
keratin 5 |
- Type I hemidesmosome assembly
- Keratinization
- Formation of the cornified envelope
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- Dowling-Degos disease
- Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM); Epidermolysis bullosa simplex, Koebner type (EBS-K); Epidermolysis bullosa simplex, Weber-Cockayne type (EBS-WC); Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP); Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex, recessive; Epidermolysis bullosa, lethal acantholytic
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MARK3 |
microtubule affinity regulating kinase 3 |
- RAF activation
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
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MTUS2 |
microtubule associated scaffold protein 2 |
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NDEL1 |
nudE neurodevelopment protein 1 like 1 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- RHO GTPases Activate Formins
- Mitotic Prometaphase
- EML4 and NUDC in mitotic spindle formation
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POLR3A |
RNA polymerase III subunit A |
- Cytosolic sensors of pathogen-associated DNA
- RNA Polymerase III Chain Elongation
- RNA Polymerase III Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
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RBM5 |
RNA binding motif protein 5 |
- mRNA Splicing - Major Pathway
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SINHCAF |
SIN3-HDAC complex associated factor |
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SMAD9 |
SMAD family member 9 |
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YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- AURKA Activation by TPX2
- Regulation of localization of FOXO transcription factors
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