SFTPC and WWP2 |
surfactant protein C |
WW domain containing E3 ubiquitin protein ligase 2 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Regulation of PTEN stability and activity
- NOTCH3 Activation and Transmission of Signal to the Nucleus
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and SEC61G |
surfactant protein C |
SEC61 translocon subunit gamma |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- 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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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and TMEM79 |
surfactant protein C |
transmembrane protein 79 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and CREB3 |
surfactant protein C |
cAMP responsive element binding protein 3 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- CREB3 factors activate genes
- CREB3 factors activate genes
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPD and RBX1 |
surfactant protein D |
ring-box 1 |
- Toll Like Receptor 4 (TLR4) Cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Signal regulatory protein family interactions
- Surfactant metabolism
- Regulation of TLR by endogenous ligand
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Recognition of DNA damage by PCNA-containing replication complex
- Prolactin receptor signaling
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Vif-mediated degradation of APOBEC3G
- Degradation of beta-catenin by the destruction complex
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Degradation of DVL
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- 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
- Orc1 removal from chromatin
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
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SNRPD2 and CEP70 |
small nuclear ribonucleoprotein D2 polypeptide |
centrosomal protein 70 |
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
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- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
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SNRPD2 and SNRPF |
small nuclear ribonucleoprotein D2 polypeptide |
small nuclear ribonucleoprotein polypeptide F |
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
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- 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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SOX9 and ATP6V1H |
SRY-box transcription factor 9 |
ATPase H+ transporting V1 subunit H |
- Deactivation of the beta-catenin transactivating complex
- Transcriptional regulation by RUNX2
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- ROS and RNS production in phagocytes
- Nef Mediated CD4 Down-regulation
- Nef Mediated CD8 Down-regulation
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Blockage of phagosome acidification
- Amino acids regulate mTORC1
- Ion channel transport
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- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Campomelic dysplasia (CD)
- 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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SOX9 and HERC1 |
SRY-box transcription factor 9 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
- Deactivation of the beta-catenin transactivating complex
- Transcriptional regulation by RUNX2
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- Antigen processing: Ubiquitination & Proteasome degradation
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- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Campomelic dysplasia (CD)
- 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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SYN2 and SYN3 |
synapsin II |
synapsin III |
- Serotonin Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
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- Serotonin Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
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TERT and RUVBL1 |
telomerase reverse transcriptase |
RuvB like AAA ATPase 1 |
- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
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- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- HATs acetylate histones
- UCH proteinases
- Ub-specific processing proteases
- DNA Damage Recognition in GG-NER
- Deposition of new CENPA-containing nucleosomes at the centromere
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- Zidovudine
- Grn163l
- Tertomotide
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- Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
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TFAP2B and CITED2 |
transcription factor AP-2 beta |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
- SUMOylation of transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
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- Regulation of gene expression by Hypoxia-inducible Factor
- TFAP2 (AP-2) family regulates transcription of other transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
- FOXO-mediated transcription of cell death genes
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TFAP2C and CITED2 |
transcription factor AP-2 gamma |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
- SUMOylation of transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- TFAP2 (AP-2) family regulates transcription of other transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
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- Regulation of gene expression by Hypoxia-inducible Factor
- TFAP2 (AP-2) family regulates transcription of other transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
- FOXO-mediated transcription of cell death genes
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TFAP2C and WWOX |
transcription factor AP-2 gamma |
WW domain containing oxidoreductase |
- SUMOylation of transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- TFAP2 (AP-2) family regulates transcription of other transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
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- Nuclear signaling by ERBB4
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Activation of the TFAP2 (AP-2) family of transcription factors
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TGFB1 and TGFB2 |
transforming growth factor beta 1 |
transforming growth factor beta 2 |
- Platelet degranulation
- Influenza Virus Induced Apoptosis
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Syndecan interactions
- ECM proteoglycans
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- Transcriptional regulation of white adipocyte differentiation
- UCH proteinases
- Interleukin-4 and Interleukin-13 signaling
- RUNX3 regulates CDKN1A transcription
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
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- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Hyaluronidase
- Hyaluronidase (Human Recombinant)
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- Graft-versus-host disease
- Allograft rejection
- Camurati-Engelmann disease; Progressive diaphyseal dysplasia
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- Graft-versus-host disease
- Allograft rejection
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TGFB2 and TGFB3 |
transforming growth factor beta 2 |
transforming growth factor beta 3 |
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Graft-versus-host disease
- Allograft rejection
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Graft-versus-host disease
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- Allograft rejection
- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
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TGFB2 and TGFBR1 |
transforming growth factor beta 2 |
transforming growth factor beta receptor 1 |
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- UCH proteinases
- Ub-specific processing proteases
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- 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline
- Naphthyridine Inhibitor
- 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole
- N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide
- 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine
- N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine
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- Graft-versus-host disease
- Allograft rejection
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- Loeys-Dietz syndrome (LDS)
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
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TGFB2 and TGFBR2 |
transforming growth factor beta 2 |
transforming growth factor beta receptor 2 |
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- UCH proteinases
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- Graft-versus-host disease
- Allograft rejection
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- Colorectal cancer
- Loeys-Dietz syndrome (LDS)
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
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TGFB2 and TGFBR3 |
transforming growth factor beta 2 |
transforming growth factor beta receptor 3 |
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Graft-versus-host disease
- Allograft rejection
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TGFB2 and VASN |
transforming growth factor beta 2 |
vasorin |
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Graft-versus-host disease
- Allograft rejection
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