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EFHC1 |
EF-hand domain containing 1 |
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- Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
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EIF4E2 |
eukaryotic translation initiation factor 4E family member 2 |
- ISG15 antiviral mechanism
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EIF4EBP1 |
eukaryotic translation initiation factor 4E binding protein 1 |
- mTORC1-mediated signalling
- Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
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EP300 |
EP300 lysine acetyltransferase |
- Regulation of gene expression by Hypoxia-inducible Factor
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- NOTCH2 intracellular domain regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NGF-stimulated transcription
- NGF-stimulated transcription
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
- STAT3 nuclear events downstream of ALK signaling
- Heme signaling
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- Nuclear events mediated by NFE2L2
- Formation of paraxial mesoderm
- NFE2L2 regulating inflammation associated genes
- NFE2L2 regulating anti-oxidant/detoxification enzymes
- NFE2L2 regulates pentose phosphate pathway genes
- NFE2L2 regulating tumorigenic genes
- NFE2L2 regulating MDR associated enzymes
- NFE2L2 regulating ER-stress associated genes
- Regulation of NFE2L2 gene expression
- Regulation of NFE2L2 gene expression
- Zygotic genome activation (ZGA)
- Evasion by RSV of host interferon responses
- TGFBR3 expression
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
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- Rubinstein-Taybi syndrome
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EPB41L3 |
erythrocyte membrane protein band 4.1 like 3 |
- Neurexins and neuroligins
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
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EPHB6 |
EPH receptor B6 |
- EPH-Ephrin signaling
- EPH-Ephrin signaling
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- Ephrin signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
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EXOC8 |
exocyst complex component 8 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Insulin processing
- VxPx cargo-targeting to cilium
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EXOSC1 |
exosome component 1 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 3' to 5' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- Major pathway of rRNA processing in the nucleolus and cytosol
- Nuclear RNA decay
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FAH |
fumarylacetoacetate hydrolase |
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- Fumaric acid
- Acetoacetic acid
- 4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid
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- Tyrosinemia; Tyrosinemia, type I; Tyrosinemia, type II; Tyrosinemia, type III; Hawkinsinuria
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FAM110A |
family with sequence similarity 110 member A |
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FAM124B |
family with sequence similarity 124 member B |
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FAM74A4 |
family with sequence similarity 74 member A4 |
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FLAD1 |
flavin adenine dinucleotide synthetase 1 |
- Vitamin B2 (riboflavin) metabolism
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FLNA |
filamin A |
- Platelet degranulation
- GP1b-IX-V activation signalling
- Cell-extracellular matrix interactions
- RHO GTPases activate PAKs
- OAS antiviral response
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- FG syndrome (FGS); Opitz-Kaveggia syndrome
- Periventricular nodular heterotopia (PVNH)
- 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)
- Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
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FRS3 |
fibroblast growth factor receptor substrate 3 |
- FRS-mediated FGFR1 signaling
- FRS-mediated FGFR2 signaling
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- RAF/MAP kinase cascade
- Activated NTRK2 signals through FRS2 and FRS3
- RND2 GTPase cycle
- RND1 GTPase cycle
- Signaling by ALK fusions and activated point mutants
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GEM |
GTP binding protein overexpressed in skeletal muscle |
- NPAS4 regulates expression of target genes
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GLRX3 |
glutaredoxin 3 |
- Iron uptake and transport
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GNG10 |
G protein subunit gamma 10 |
- Activation of G protein gated Potassium channels
- Glucagon signaling in metabolic regulation
- G-protein activation
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- ADP signalling through P2Y purinoceptor 12
- G beta:gamma signalling through PI3Kgamma
- Prostacyclin signalling through prostacyclin receptor
- Prostacyclin signalling through prostacyclin receptor
- Adrenaline,noradrenaline inhibits insulin secretion
- Adrenaline,noradrenaline inhibits insulin secretion
- Ca2+ pathway
- Ca2+ pathway
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- G beta:gamma signalling through PLC beta
- G alpha (s) signalling events
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
- G alpha (i) signalling events
- G alpha (z) signalling events
- Glucagon-type ligand receptors
- Thromboxane signalling through TP receptor
- Vasopressin regulates renal water homeostasis via Aquaporins
- Thrombin signalling through proteinase activated receptors (PARs)
- Thrombin signalling through proteinase activated receptors (PARs)
- Presynaptic function of Kainate receptors
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- G beta:gamma signalling through BTK
- G beta:gamma signalling through CDC42
- Extra-nuclear estrogen signaling
- GPER1 signaling
- ADORA2B mediated anti-inflammatory cytokines production
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
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GOLGA8EP |
golgin A8 family member E, pseudogene |
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GOLGA8F |
golgin A8 family member F |
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