Novel |
CARD14 |
caspase recruitment domain family member 14 |
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Novel |
CFHR3 |
complement factor H related 3 |
- Regulation of Complement cascade
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Novel |
MMP10 |
matrix metallopeptidase 10 |
- Collagen degradation
- Collagen degradation
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Activation of Matrix Metalloproteinases
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- Marimastat
- N-ISOBUTYL-N-[4-METHOXYPHENYLSULFONYL]GLYCYL HYDROXAMIC ACID
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Novel |
POLR2A |
RNA polymerase II subunit A |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Pausing and recovery of Tat-mediated HIV elongation
- Abortive elongation of HIV-1 transcript in the absence of Tat
- Tat-mediated HIV elongation arrest and recovery
- Tat-mediated elongation of the HIV-1 transcript
- HIV elongation arrest and recovery
- Pausing and recovery of HIV elongation
- Viral Messenger RNA Synthesis
- MicroRNA (miRNA) biogenesis
- Transcriptional regulation by small RNAs
- PIWI-interacting RNA (piRNA) biogenesis
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- FGFR2 alternative splicing
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- mRNA Capping
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
- Signaling by FGFR2 IIIa TM
- Estrogen-dependent gene expression
- Inhibition of DNA recombination at telomere
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Novel |
RCVRN |
recoverin |
- Inactivation, recovery and regulation of the phototransduction cascade
- Inactivation, recovery and regulation of the phototransduction cascade
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Novel |
ZNF367 |
zinc finger protein 367 |
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
- Transcriptional Regulation by VENTX
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Apoptotic factor-mediated response
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription factors
- Regulation of TP53 Degradation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
- Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
- Evasion of Oncogene Induced Senescence Due to p14ARF Defects
- Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects
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- Bladder cancer
- Type II diabetes mellitus
- Pancreatic cancer
- Burkitt lymphoma
- Adult T-cell leukemia
- Malignant pleural mesothelioma
- Non-small cell lung cancer
- Chronic myeloid leukemia (CML)
- Oral cancer
- Penile cancer
- Nasopharyngeal cancer
- Glioma
- Osteosarcoma
- Squamous cell carcinoma
- Cholangiocarcinoma
- Gallbladder cancer
- Malignant islet cell carcinoma
- Laryngeal cancer
- Hepatocellular carcinoma
- Esophageal cancer
- Malignant melanoma
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MYC |
MYC proto-oncogene, bHLH transcription factor |
- Transcription of E2F targets under negative control by DREAM complex
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- MAPK6/MAPK4 signaling
- Ub-specific processing proteases
- Interleukin-4 and Interleukin-13 signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- RUNX3 regulates WNT signaling
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Acetylsalicylic acid
- Nadroparin
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- Choriocarcinoma
- Penile cancer
- Burkitt lymphoma
- Oral cancer
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Multiple myeloma
- Small cell lung cancer
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Osteosarcoma
- Kaposi's sarcoma
- Laryngeal cancer
- Breast cancer
- Ovarian cancer
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ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
- Signaling by ERBB2
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- GRB7 events in ERBB2 signaling
- Downregulation of ERBB2:ERBB3 signaling
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Sema4D induced cell migration and growth-cone collapse
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Constitutive Signaling by Overexpressed ERBB2
- Drug-mediated inhibition of ERBB2 signaling
- Signaling by ERBB2 KD Mutants
- Resistance of ERBB2 KD mutants to trastuzumab
- Resistance of ERBB2 KD mutants to sapitinib
- Resistance of ERBB2 KD mutants to tesevatinib
- Resistance of ERBB2 KD mutants to neratinib
- Resistance of ERBB2 KD mutants to osimertinib
- Resistance of ERBB2 KD mutants to afatinib
- Resistance of ERBB2 KD mutants to AEE788
- Resistance of ERBB2 KD mutants to lapatinib
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Drug resistance in ERBB2 TMD/JMD mutants
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- Trastuzumab
- Lapatinib
- IGN311
- Trastuzumab emtansine
- Varlitinib
- AV-412
- Pertuzumab
- Afatinib
- Tucatinib
- Tesevatinib
- Fostamatinib
- Brigatinib
- Margetuximab
- Zanubrutinib
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- Choriocarcinoma
- Pancreatic cancer
- Gastric cancer
- Bladder cancer
- Endometrial Cancer
- Ovarian cancer
- Cholangiocarcinoma
- Breast cancer
- Cervical cancer
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PTEN |
phosphatase and tensin homolog |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP3 and IP4 in the cytosol
- Negative regulation of the PI3K/AKT network
- Downstream TCR signaling
- TP53 Regulates Metabolic Genes
- PTEN Loss of Function in Cancer
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Regulation of PTEN mRNA translation
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Transcriptional Regulation by MECP2
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- Vulvar cancer
- Prostate cancer
- Endometrial Cancer
- Glioma
- Small cell lung cancer
- Breast cancer
- Hepatocellular carcinoma
- Malignant melanoma
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RB1 |
RB transcriptional corepressor 1 |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Condensation of Prophase Chromosomes
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- RUNX2 regulates osteoblast differentiation
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Defective translocation of RB1 mutants to the nucleus
- Replication of the SARS-CoV-1 genome
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Replication of the SARS-CoV-2 genome
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- Insulin human
- Insulin pork
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- Bladder cancer
- Small cell lung cancer
- Glioma
- Osteosarcoma
- Breast cancer
- Esophageal cancer
- Hepatocellular carcinoma
- Chronic myeloid leukemia (CML)
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BCL2 |
BCL2 apoptosis regulator |
- Activation of BAD and translocation to mitochondria
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-4 and Interleukin-13 signaling
- The NLRP1 inflammasome
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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- Ibuprofen
- Paclitaxel
- Docetaxel
- Rasagiline
- Paclitaxel docosahexaenoic acid
- Apoptone
- Glycine betaine
- Eribulin
- Dexibuprofen
- Isosorbide
- Venetoclax
- Obatoclax
- Navitoclax
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- Choriocarcinoma
- Gastric cancer
- Chronic lymphocytic leukemia (CLL)
- Small cell lung cancer
- Kaposi's sarcoma
- Nasopharyngeal cancer
- Cervical cancer
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TP63 |
tumor protein p63 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Metabolic Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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- Limb-mammary syndrome
- ADULT syndrome
- Split-hand/foot malformation (SHFM)
- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
- Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
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MDM2 |
MDM2 proto-oncogene |
- AKT phosphorylates targets in the cytosol
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- Trafficking of AMPA receptors
- Constitutive Signaling by AKT1 E17K in Cancer
- Ub-specific processing proteases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
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- Zinc
- Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone
- Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
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ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- Chronic lymphocytic leukemia (CLL)
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ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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BRCA2 |
BRCA2 DNA repair associated |
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Presynaptic phase of homologous DNA pairing and strand exchange
- Meiotic recombination
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- Fanconi anemia
- Pancreatic cancer
- Breast cancer
- Ovarian cancer
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MEN1 |
menin 1 |
- Formation of the beta-catenin:TCF transactivating complex
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Deactivation of the beta-catenin transactivating complex
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- RHO GTPases activate IQGAPs
- Post-translational protein phosphorylation
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- Carcinoid
- Adrenal carcinoma
- Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)
- Malignant islet cell carcinoma
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ACTA1 |
actin alpha 1, skeletal muscle |
- Striated Muscle Contraction
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- Latrunculin A
- Sucrose
- Ulapualide A
- Kabiramide C
- Jaspisamide A
- Tmr
- 1-Methylhistidine
- Phosphoaminophosphonic Acid-Adenylate Ester
- Aplyronine A
- Reidispongiolide A
- Reidispongiolide C
- Sphinxolide B
- Latrunculin B
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- Congenital fiber type disproportion (CFTD)
- Cap myopathy
- Nemaline myopathy
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CDK4 |
cyclin dependent kinase 4 |
- SCF(Skp2)-mediated degradation of p27/p21
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- RMTs methylate histone arginines
- Transcriptional regulation of white adipocyte differentiation
- Cyclin D associated events in G1
- Ubiquitin-dependent degradation of Cyclin D
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates Cell Cycle
- Transcriptional regulation by RUNX2
- Meiotic recombination
- Transcriptional regulation of granulopoiesis
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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- Purvalanol
- Alvocidib
- Palbociclib
- Ribociclib
- Abemaciclib
- Fostamatinib
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- Glioma
- Malignant melanoma
- Cervical cancer
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