|
|
MITF |
melanocyte inducing transcription factor |
- SUMOylation of transcription factors
- Transcriptional and post-translational regulation of MITF-M expression and activity
|
|
- Malignant melanoma
- Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA)
- Waardenburg syndrome (WS)
|
|
|
NOL11 |
nucleolar protein 11 |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
|
|
|
|
|
PKP2 |
plakophilin 2 |
- Keratinization
- Formation of the cornified envelope
|
|
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|
|
|
PMPCB |
peptidase, mitochondrial processing subunit beta |
- Mitochondrial protein import
- Processing of SMDT1
|
|
|
|
|
PNPLA2 |
patatin like domain 2, triacylglycerol lipase |
- Acyl chain remodeling of DAG and TAG
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
|
|
|
|
|
PRKCQ |
protein kinase C theta |
- Apoptotic cleavage of cellular proteins
- Effects of PIP2 hydrolysis
- Downstream TCR signaling
- Inactivation, recovery and regulation of the phototransduction cascade
- FCERI mediated NF-kB activation
- FCERI mediated NF-kB activation
- Netrin-1 signaling
- G alpha (z) signalling events
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RAS processing
|
- Tamoxifen
- Staurosporine
- Staurosporine
- Phosphonothreonine
- Dequalinium
- Dexfosfoserine
- Benzoyl peroxide
- Fostamatinib
|
|
|
|
SAAL1 |
serum amyloid A like 1 |
|
|
|
|
|
SFN |
stratifin |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- Regulation of localization of FOXO transcription factors
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
|
|
|
|
|
TCEA2 |
transcription elongation factor A2 |
|
|
|
|
|
TTR |
transthyretin |
- The canonical retinoid cycle in rods (twilight vision)
- Non-integrin membrane-ECM interactions
- Neutrophil degranulation
- Retinoid metabolism and transport
- Amyloid fiber formation
- Defective visual phototransduction due to STRA6 loss of function
|
- Zinc
- Copper
- Tafamidis
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Revusiran
|
- Familial carpal tunnel syndrome
- Familial amyloidosis
|
|
|
VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
- SARS-CoV-2 modulates autophagy
|
|
|
|
|
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
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
- Transcriptional and post-translational regulation of MITF-M expression and activity
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
|
|
|
|
|
YWHAZ |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Deactivation of the beta-catenin transactivating complex
- Rap1 signalling
- GP1b-IX-V activation signalling
- KSRP (KHSRP) binds and destabilizes mRNA
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
- Transcriptional and post-translational regulation of MITF-M expression and activity
|
|
|