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LHX4 |
LIM homeobox 4 |
- Regulation of expression of SLITs and ROBOs
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- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
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- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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LMNB2 |
lamin B2 |
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LNX2 |
ligand of numb-protein X 2 |
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LONRF1 |
LON peptidase N-terminal domain and ring finger 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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LZTS2 |
leucine zipper tumor suppressor 2 |
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MALT1 |
MALT1 paracaspase |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- FCERI mediated NF-kB activation
- CLEC7A (Dectin-1) signaling
- CLEC7A/inflammasome pathway
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MAP3K2 |
mitogen-activated protein kinase kinase kinase 2 |
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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
- Signaling by ALK fusions and activated point mutants
- Degradation of CDH1
- NPAS4 regulates expression of target genes
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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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- Penile cancer
- Alveolar rhabdomyosarcoma
- Choriocarcinoma
- Osteosarcoma
- Glioma
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MID2 |
midline 2 |
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MLKL |
mixed lineage kinase domain like pseudokinase |
- TRP channels
- RIPK1-mediated regulated necrosis
- Regulation of necroptotic cell death
- Microbial modulation of RIPK1-mediated regulated necrosis
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MNAT1 |
MNAT1 component of CDK activating kinase |
- 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
- Tat-mediated elongation of the HIV-1 transcript
- NoRC negatively regulates rRNA expression
- Formation of Incision Complex in GG-NER
- 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
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A/B1/B2 associated events during G2/M transition
- Cyclin A:Cdk2-associated events at S phase entry
- mRNA Capping
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- 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
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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MORN5 |
MORN repeat containing 5 |
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MRPL28 |
mitochondrial ribosomal protein L28 |
- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
- Mitochondrial ribosome-associated quality control
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MTUS2 |
microtubule associated scaffold protein 2 |
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MYC |
MYC proto-oncogene, bHLH transcription factor |
- Transcription of E2F targets under negative control by DREAM complex
- Signaling by ALK
- 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
- Regulation of CDH1 mRNA translation by microRNAs
- Regulation of NFE2L2 gene expression
- Regulation of PD-L1(CD274) transcription
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- Acetylsalicylic acid
- Dimethyl sulfoxide
- Doconexent
- Nadroparin
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- Penile cancer
- Breast cancer
- Laryngeal cancer
- Oral cancer
- Multiple myeloma
- Kaposi's sarcoma
- Ovarian cancer
- Choriocarcinoma
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Burkitt lymphoma
- Small cell lung cancer
- Osteosarcoma
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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NAB2 |
NGFI-A binding protein 2 |
- NGF-stimulated transcription
- NGF-stimulated transcription
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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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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NEFL |
neurofilament light chain |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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