Search Results for: brca1

Novel Symbol Description Pathways Hide Drugs Hide Diseases Hide
SDK2 sidekick cell adhesion molecule 2
  • SDK interactions
SETX senataxin
  • 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)
  • Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
  • Distal hereditary motor neuropathies (dHMN)
SKP2 S-phase kinase associated protein 2
  • APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
  • SCF(Skp2)-mediated degradation of p27/p21
  • Ub-specific processing proteases
  • Orc1 removal from chromatin
  • Cyclin D associated events in G1
  • Regulation of RUNX2 expression and activity
  • Neddylation
  • Aberrant regulation of mitotic exit in cancer due to RB1 defects
  • Regulation of BACH1 activity
  • Antigen processing: Ubiquitination & Proteasome degradation
SMAD2 SMAD family member 2
  • Signaling by NODAL
  • Signaling by NODAL
  • Signaling by Activin
  • Signaling by Activin
  • Downregulation of TGF-beta receptor signaling
  • TGF-beta receptor signaling activates SMADs
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • SMAD2/3 Phosphorylation Motif Mutants in Cancer
  • SMAD4 MH2 Domain Mutants in Cancer
  • SMAD2/3 MH2 Domain Mutants in Cancer
  • TGFBR1 KD Mutants in Cancer
  • Transcriptional regulation of pluripotent stem cells
  • Ub-specific processing proteases
  • FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
  • FOXO-mediated transcription of cell cycle genes
  • FOXO-mediated transcription of cell cycle genes
  • Germ layer formation at gastrulation
  • Formation of axial mesoderm
  • Formation of definitive endoderm
  • Formation of definitive endoderm
  • Dexfosfoserine
  • Colorectal cancer
SMAD3 SMAD family member 3
  • Signaling by NODAL
  • Signaling by NODAL
  • Signaling by Activin
  • Signaling by Activin
  • Downregulation of TGF-beta receptor signaling
  • TGF-beta receptor signaling activates SMADs
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • SMAD2/3 Phosphorylation Motif Mutants in Cancer
  • SMAD4 MH2 Domain Mutants in Cancer
  • SMAD2/3 MH2 Domain Mutants in Cancer
  • TGFBR1 KD Mutants in Cancer
  • Ub-specific processing proteases
  • RUNX3 regulates CDKN1A transcription
  • RUNX3 regulates BCL2L11 (BIM) transcription
  • Interleukin-37 signaling
  • NOTCH4 Intracellular Domain Regulates Transcription
  • FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
  • FOXO-mediated transcription of cell cycle genes
  • FOXO-mediated transcription of cell cycle genes
  • SARS-CoV-1 targets host intracellular signalling and regulatory pathways
  • Germ layer formation at gastrulation
  • Formation of axial mesoderm
  • Formation of definitive endoderm
  • Formation of definitive endoderm
  • TGFBR3 expression
SMAD4 SMAD family member 4
  • Signaling by NODAL
  • Signaling by NODAL
  • Signaling by Activin
  • Signaling by Activin
  • Signaling by BMP
  • TGF-beta receptor signaling activates SMADs
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • SMAD4 MH2 Domain Mutants in Cancer
  • SMAD2/3 MH2 Domain Mutants in Cancer
  • Transcriptional regulation of pluripotent stem cells
  • Ub-specific processing proteases
  • RUNX2 regulates bone development
  • RUNX3 regulates CDKN1A transcription
  • RUNX3 regulates BCL2L11 (BIM) transcription
  • FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
  • FOXO-mediated transcription of cell cycle genes
  • FOXO-mediated transcription of cell cycle genes
  • Cardiogenesis
  • SARS-CoV-1 targets host intracellular signalling and regulatory pathways
  • Germ layer formation at gastrulation
  • Formation of definitive endoderm
  • Formation of definitive endoderm
  • TGFBR3 expression
  • Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
  • Colorectal cancer
  • Juvenile polyposis syndrome
  • Hereditary hemorrhagic telangiectasia (HHT)
  • Pancreatic cancer
SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
  • RMTs methylate histone arginines
  • RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
  • Regulation of MITF-M-dependent genes involved in pigmentation
  • Regulation of MITF-M-dependent genes involved in pigmentation
  • Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
  • Formation of the canonical BAF (cBAF) complex
  • Formation of the polybromo-BAF (pBAF) complex
  • Formation of the non-canonical BAF (ncBAF) complex
  • Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
  • Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 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
  • Negative Regulation of CDH1 Gene Transcription
  • Regulation of MITF-M-dependent genes involved in pigmentation
  • Regulation of MITF-M-dependent genes involved in pigmentation
  • Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
  • Formation of the canonical BAF (cBAF) complex
  • Formation of the polybromo-BAF (pBAF) complex
  • Formation of the embryonic stem cell BAF (esBAF) complex
  • Formation of the non-canonical BAF (ncBAF) complex
  • Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
  • Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
SMC1A structural maintenance of chromosomes 1A
  • Meiotic synapsis
  • Separation of Sister Chromatids
  • Establishment of Sister Chromatid Cohesion
  • Cohesin Loading onto Chromatin
  • Resolution of Sister Chromatid Cohesion
  • SUMOylation of DNA damage response and repair proteins
  • Estrogen-dependent gene expression
  • Cornelia de Lange syndrome (CdLS)
SNRNP200 small nuclear ribonucleoprotein U5 subunit 200
  • mRNA Splicing - Major Pathway
  • mRNA Splicing - Minor Pathway
  • Retinitis pigmentosa (RP)
SNX3 sorting nexin 3
  • WNT ligand biogenesis and trafficking
  • Ub-specific processing proteases
  • S,S-(2-Hydroxyethyl)Thiocysteine
SNX6 sorting nexin 6
SOX30 SRY-box transcription factor 30
SP1 Sp1 transcription factor
  • PPARA activates gene expression
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • Activation of gene expression by SREBF (SREBP)
  • Oncogene Induced Senescence
  • RNA polymerase II transcribes snRNA genes
  • RNA polymerase II transcribes snRNA genes
  • Estrogen-dependent gene expression
  • SARS-CoV-1 targets host intracellular signalling and regulatory pathways
  • Regulation of CDH11 gene transcription
  • Regulation of CDH11 gene transcription
  • Positive Regulation of CDH1 Gene Transcription
  • NFE2L2 regulating tumorigenic genes
  • TGFBR3 expression
SPATA4 spermatogenesis associated 4
SQSTM1 sequestosome 1
  • NRIF signals cell death from the nucleus
  • p75NTR recruits signalling complexes
  • NF-kB is activated and signals survival
  • PINK1-PRKN Mediated Mitophagy
  • Neddylation
  • Interleukin-1 signaling
  • Pexophagy
  • Signaling by ALK fusions and activated point mutants
  • KEAP1-NFE2L2 pathway
  • Nuclear events mediated by NFE2L2
  • Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
SSX2IP SSX family member 2 interacting protein
STAC2 SH3 and cysteine rich domain 2
STAT1 signal transducer and activator of transcription 1
  • Interleukin-6 signaling
  • ISG15 antiviral mechanism
  • Signaling by SCF-KIT
  • Signaling by cytosolic FGFR1 fusion mutants
  • Downstream signal transduction
  • Interleukin-4 and Interleukin-13 signaling
  • Interleukin-20 family signaling
  • Regulation of RUNX2 expression and activity
  • Interleukin-35 Signalling
  • Interleukin-9 signaling
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH3 Intracellular Domain Regulates Transcription
  • Interleukin-27 signaling
  • Interleukin-21 signaling
  • Interferon alpha/beta signaling
  • Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
  • Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
  • Signaling by PDGFRA extracellular domain mutants
  • Signaling by CSF3 (G-CSF)
  • Signaling by CSF1 (M-CSF) in myeloid cells
  • Inactivation of CSF3 (G-CSF) signaling
  • SARS-CoV-2 activates/modulates innate and adaptive immune responses
  • Signaling by ALK fusions and activated point mutants
  • Growth hormone receptor signaling
  • PKR-mediated signaling
  • Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
  • Regulation of PD-L1(CD274) transcription
  • Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
  • IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
STAT3 signal transducer and activator of transcription 3
  • Interleukin-6 signaling
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • Interleukin-7 signaling
  • Interleukin-7 signaling
  • Signaling by SCF-KIT
  • Signaling by cytosolic FGFR1 fusion mutants
  • Downstream signal transduction
  • Signalling to STAT3
  • Signaling by ALK
  • Senescence-Associated Secretory Phenotype (SASP)
  • Signaling by Leptin
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
  • Association of TriC/CCT with target proteins during biosynthesis
  • Transcriptional regulation of pluripotent stem cells
  • Interleukin-10 signaling
  • Interleukin-4 and Interleukin-13 signaling
  • PTK6 Activates STAT3
  • PTK6 Activates STAT3
  • Interleukin-20 family signaling
  • MET activates STAT3
  • MET activates STAT3
  • Interleukin-15 signaling
  • Interleukin-35 Signalling
  • Interleukin-9 signaling
  • Interleukin-37 signaling
  • Interleukin-23 signaling
  • Interleukin-23 signaling
  • Interleukin-27 signaling
  • Interleukin-21 signaling
  • Transcriptional regulation of granulopoiesis
  • Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
  • Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
  • Signaling by PDGFRA extracellular domain mutants
  • Signaling by CSF3 (G-CSF)
  • Signaling by CSF1 (M-CSF) in myeloid cells
  • STAT3 nuclear events downstream of ALK signaling
  • Inactivation of CSF3 (G-CSF) signaling
  • Cytoprotection by HMOX1
  • Signaling by ALK fusions and activated point mutants
  • Nuclear events stimulated by ALK signaling in cancer
  • Growth hormone receptor signaling
  • PKR-mediated signaling
  • Regulation of PD-L1(CD274) transcription
  • ENMD-1198
  • OPB-111077
  • Oral cancer
  • Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

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