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RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
- Stimuli-sensing channels
- Rap1 signalling
- GP1b-IX-V activation signalling
- CD209 (DC-SIGN) signaling
- RAF activation
- MAP2K and MAPK activation
- Negative feedback regulation of MAPK pathway
- 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
- Signaling by RAF1 mutants
- Signaling by MRAS-complex mutants
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- Sorafenib
- LErafAON
- XL281
- iCo-007
- Cholecystokinin
- Regorafenib
- Dabrafenib
- Fostamatinib
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RASA1 |
RAS p21 protein activator 1 |
- Downstream signal transduction
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- VEGFR2 mediated cell proliferation
- Regulation of RAS by GAPs
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
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- RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
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RASSF1 |
Ras association domain family member 1 |
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- Non-small cell lung cancer
- Bladder cancer
- Nasopharyngeal cancer
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RBM26 |
RNA binding motif protein 26 |
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RIN2 |
Ras and Rab interactor 2 |
- RAB GEFs exchange GTP for GDP on RABs
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- Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome
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RPL11 |
ribosomal protein L11 |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Peptide chain elongation
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
- Viral mRNA Translation
- Selenocysteine synthesis
- Major pathway of rRNA processing in the nucleolus and cytosol
- Formation of a pool of free 40S subunits
- GTP hydrolysis and joining of the 60S ribosomal subunit
- Eukaryotic Translation Termination
- Regulation of expression of SLITs and ROBOs
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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- (S)-3-phenyllactic acid
- Anisomycin
- Puromycin
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- Diamond-Blackfan anemia (DBA)
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RPS7 |
ribosomal protein S7 |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Peptide chain elongation
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
- Viral mRNA Translation
- Selenocysteine synthesis
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
- Translation initiation complex formation
- Formation of a pool of free 40S subunits
- Formation of the ternary complex, and subsequently, the 43S complex
- Ribosomal scanning and start codon recognition
- GTP hydrolysis and joining of the 60S ribosomal subunit
- Eukaryotic Translation Termination
- Regulation of expression of SLITs and ROBOs
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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- Diamond-Blackfan anemia (DBA)
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RUVBL2 |
RuvB like AAA ATPase 2 |
- Telomere Extension By Telomerase
- HATs acetylate histones
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SEC61B |
SEC61 translocon subunit beta |
- ER-Phagosome pathway
- SRP-dependent cotranslational protein targeting to membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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SERTAD1 |
SERTA domain containing 1 |
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SFRP4 |
secreted frizzled related protein 4 |
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- Cyclothiazide
- Perindopril
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SIVA1 |
SIVA1 apoptosis inducing factor |
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- Zinc
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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SIX2 |
SIX homeobox 2 |
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SLC4A1 |
solute carrier family 4 member 1 (Diego blood group) |
- Erythrocytes take up carbon dioxide and release oxygen
- Erythrocytes take up oxygen and release carbon dioxide
- Bicarbonate transporters
- Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
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- Hereditary elliptocytosis (HE)
- Hereditary spherocytosis (SPH)
- Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
- Distal renal tubular acidosis (RTA type 1)
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SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
- Interleukin-7 signaling
- Formation of the beta-catenin:TCF transactivating complex
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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SNRPA |
small nuclear ribonucleoprotein polypeptide A |
- mRNA Splicing - Major Pathway
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
- SLBP independent Processing of Histone Pre-mRNAs
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- RNA Polymerase II Transcription Termination
- SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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SOX3 |
SRY-box transcription factor 3 |
- Deactivation of the beta-catenin transactivating complex
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- Septo-optic dysplasia
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
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SOX4 |
SRY-box transcription factor 4 |
- Deactivation of the beta-catenin transactivating complex
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STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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