ATXN1 and PRRC2A |
ataxin 1 |
proline-rich coiled-coil 2A |
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ATXN2 and BAG6 |
ataxin 2 |
BCL2-associated athanogene 6 |
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CCL7 and FEZ1 |
chemokine (C-C motif) ligand 7 |
fasciculation and elongation protein zeta 1 (zygin I) |
- Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
- Signaling by GPCR
- Peptide ligand-binding receptors
- Chemokine receptors bind chemokines
- Class A/1 (Rhodopsin-like receptors)
- Metabolic disorders of biological oxidation enzymes
- GPCR ligand binding
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SDC2 and BAG6 |
syndecan 2 |
BCL2-associated athanogene 6 |
- MPS IIIB - Sanfilippo syndrome B
- Diseases of glycosylation
- Axon guidance
- Defective B4GALT7 causes EDS, progeroid type
- Heparan sulfate/heparin (HS-GAG) metabolism
- MPS I - Hurler syndrome
- MPS IX - Natowicz syndrome
- Chondroitin sulfate/dermatan sulfate metabolism
- Defective SLC26A2 causes chondrodysplasias
- Glycosaminoglycan metabolism
- EPHB-mediated forward signaling
- Defective CHST14 causes EDS, musculocontractural type
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
- Defective PAPSS2 causes SEMD-PA
- MPS IIIA - Sanfilippo syndrome A
- Myoclonic epilepsy of Lafora
- Defective CHST6 causes MCDC1
- Glycogen storage diseases
- MPS IIID - Sanfilippo syndrome D
- EPH-Ephrin signaling
- A tetrasaccharide linker sequence is required for GAG synthesis
- MPS IIIC - Sanfilippo syndrome C
- Retinoid metabolism and transport
- Diseases associated with glycosaminoglycan metabolism
- Mucopolysaccharidoses
- Defective EXT2 causes exostoses 2
- MPS II - Hunter syndrome
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Non-integrin membrane-ECM interactions
- Diseases associated with visual transduction
- Defective EXT1 causes exostoses 1, TRPS2 and CHDS
- Syndecan interactions
- MPS IV - Morquio syndrome A
- Visual phototransduction
- MPS IV - Morquio syndrome B
- Defective CHSY1 causes TPBS
- MPS VII - Sly syndrome
- Metabolism of carbohydrates
- HS-GAG biosynthesis
- HS-GAG degradation
- MPS VI - Maroteaux-Lamy syndrome
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SDCBP and NT5C2 |
syndecan binding protein (syntenin) |
5-nucleotidase, cytosolic II |
- Ephrin signaling
- Axon guidance
- Neurofascin interactions
- EPH-Ephrin signaling
- L1CAM interactions
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- Purine catabolism
- Purine metabolism
- Metabolism of nucleotides
- Abacavir transport and metabolism
- Abacavir metabolism
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- Adenosine triphosphate
- Ribavirin
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SDCBP and SMARCA2 |
syndecan binding protein (syntenin) |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
- Ephrin signaling
- Axon guidance
- Neurofascin interactions
- EPH-Ephrin signaling
- L1CAM interactions
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- Chromatin modifying enzymes
- Chromatin organization
- RMTs methylate histone arginines
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CXCL12 and DAZAP2 |
chemokine (C-X-C motif) ligand 12 |
DAZ associated protein 2 |
- Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
- Signaling by GPCR
- Class A/1 (Rhodopsin-like receptors)
- Signaling by ERBB4
- GPCR ligand binding
- Metabolic disorders of biological oxidation enzymes
- GPCR downstream signaling
- Nuclear signaling by ERBB4
- Peptide ligand-binding receptors
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
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CXCL12 and CXCR4 |
chemokine (C-X-C motif) ligand 12 |
chemokine (C-X-C motif) receptor 4 |
- Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
- Signaling by GPCR
- Class A/1 (Rhodopsin-like receptors)
- Signaling by ERBB4
- GPCR ligand binding
- Metabolic disorders of biological oxidation enzymes
- GPCR downstream signaling
- Nuclear signaling by ERBB4
- Peptide ligand-binding receptors
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
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- Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
- Signaling by GPCR
- HIV Infection
- Class A/1 (Rhodopsin-like receptors)
- GPCR ligand binding
- Metabolic disorders of biological oxidation enzymes
- Early Phase of HIV Life Cycle
- GPCR downstream signaling
- HIV Life Cycle
- Peptide ligand-binding receptors
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
- Binding and entry of HIV virion
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SEC13 and SEC16B |
SEC13 homolog (S. cerevisiae) |
SEC16 homolog B (S. cerevisiae) |
- Mitotic Prometaphase
- Diseases of glycosylation
- Separation of Sister Chromatids
- Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
- Transport to the Golgi and subsequent modification
- Defective MGAT2 causes MGAT2-CDG (CDG-2a)
- Defective ALG1 causes ALG1-CDG (CDG-1k)
- Mitotic Anaphase
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
- M Phase
- Defective MOGS causes MOGS-CDG (CDG-2b)
- Defective ALG9 causes ALG9-CDG (CDG-1l)
- Defective MAN1B1 causes MRT15
- MHC class II antigen presentation
- Class I MHC mediated antigen processing & presentation
- COPII (Coat Protein 2) Mediated Vesicle Transport
- ER to Golgi Transport
- Defective ALG11 causes ALG11-CDG (CDG-1p)
- Defective ALG2 causes ALG2-CDG (CDG-1i)
- Defective ALG3 causes ALG3-CDG (CDG-1d)
- Post-translational protein modification
- Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
- Cell Cycle, Mitotic
- Defective ALG6 causes ALG6-CDG (CDG-1c)
- Defective RFT1 causes RFT1-CDG (CDG-1n)
- Asparagine N-linked glycosylation
- Defective ALG8 causes ALG8-CDG (CDG-1h)
- Defective MPDU1 causes MPDU1-CDG (CDG-1f)
- Resolution of Sister Chromatid Cohesion
- Defective ALG12 causes ALG12-CDG (CDG-1g)
- Mitotic Metaphase and Anaphase
- Diseases associated with N-glycosylation of proteins
- Adaptive Immune System
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SEMA3F and NRP1 |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F |
neuropilin 1 |
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- Signal transduction by L1
- CHL1 interactions
- Axon guidance
- Semaphorin interactions
- Signaling by VEGF
- Sema3A PAK dependent Axon repulsion
- Neurophilin interactions with VEGF and VEGFR
- L1CAM interactions
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- CRMPs in Sema3A signaling
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SRSF2 and TCF4 |
serine/arginine-rich splicing factor 2 |
transcription factor 4 |
- mRNA Splicing
- Processing of Capped Intron-Containing Pre-mRNA
- RNA Polymerase II Transcription
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Minor Pathway
- mRNA Splicing - Major Pathway
- Transport of Mature Transcript to Cytoplasm
- Cleavage of Growing Transcript in the Termination Region
- RNA Polymerase II Transcription Termination
- mRNA 3'-end processing
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- CDO in myogenesis
- Myogenesis
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SGTA and BAG6 |
small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha |
BCL2-associated athanogene 6 |
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ITSN1 and ARHGAP31 |
intersectin 1 (SH3 domain protein) |
Rho GTPase activating protein 31 |
- Signaling by GPCR
- Signalling by NGF
- Axon guidance
- Cell death signalling via NRAGE, NRIF and NADE
- p75 NTR receptor-mediated signalling
- Rho GTPase cycle
- EPHB-mediated forward signaling
- GPCR downstream signaling
- NRAGE signals death through JNK
- Signaling by Rho GTPases
- EPH-Ephrin signaling
- G alpha (12/13) signalling events
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- Rho GTPase cycle
- Signaling by Rho GTPases
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ITSN1 and DISC1 |
intersectin 1 (SH3 domain protein) |
disrupted in schizophrenia 1 |
- Signaling by GPCR
- Signalling by NGF
- Axon guidance
- Cell death signalling via NRAGE, NRIF and NADE
- p75 NTR receptor-mediated signalling
- Rho GTPase cycle
- EPHB-mediated forward signaling
- GPCR downstream signaling
- NRAGE signals death through JNK
- Signaling by Rho GTPases
- EPH-Ephrin signaling
- G alpha (12/13) signalling events
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ITSN1 and PPFIA2 |
intersectin 1 (SH3 domain protein) |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 |
- Signaling by GPCR
- Signalling by NGF
- Axon guidance
- Cell death signalling via NRAGE, NRIF and NADE
- p75 NTR receptor-mediated signalling
- Rho GTPase cycle
- EPHB-mediated forward signaling
- GPCR downstream signaling
- NRAGE signals death through JNK
- Signaling by Rho GTPases
- EPH-Ephrin signaling
- G alpha (12/13) signalling events
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- Dopamine Neurotransmitter Release Cycle
- Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Serotonin Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Transmission across Chemical Synapses
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ITSN1 and ZFPM2 |
intersectin 1 (SH3 domain protein) |
zinc finger protein, FOG family member 2 |
- Signaling by GPCR
- Signalling by NGF
- Axon guidance
- Cell death signalling via NRAGE, NRIF and NADE
- p75 NTR receptor-mediated signalling
- Rho GTPase cycle
- EPHB-mediated forward signaling
- GPCR downstream signaling
- NRAGE signals death through JNK
- Signaling by Rho GTPases
- EPH-Ephrin signaling
- G alpha (12/13) signalling events
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- Factors involved in megakaryocyte development and platelet production
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SKP1 and FBXO11 |
S-phase kinase-associated protein 1 |
F-box protein 11 |
- Signaling by the B Cell Receptor (BCR)
- Signaling by NOTCH1 HD Domain Mutants in Cancer
- Hedgehog 'off' state
- misspliced GSK3beta mutants stabilize beta-catenin
- T41 mutants of beta-catenin aren't phosphorylated
- truncated APC mutants destabilize the destruction complex
- TCF7L2 mutants don't bind CTBP
- Cyclin E associated events during G1/S transition
- Signaling by Wnt
- Regulation of PLK1 Activity at G2/M Transition
- Downstream signaling events of B Cell Receptor (BCR)
- Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Degradation of beta-catenin by the destruction complex
- G1/S Transition
- AXIN mutants destabilize the destruction complex, activating WNT signaling
- S33 mutants of beta-catenin aren't phosphorylated
- Signaling by NOTCH1 in Cancer
- Prolactin receptor signaling
- Mitotic G1-G1/S phases
- truncations of AMER1 destabilize the destruction complex
- Signaling by NOTCH
- Host Interactions of HIV factors
- phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
- AXIN missense mutants destabilize the destruction complex
- S45 mutants of beta-catenin aren't phosphorylated
- Regulation of APC/C activators between G1/S and early anaphase
- S Phase
- Signaling by ERBB4
- APC/C-mediated degradation of cell cycle proteins
- Signaling by Interleukins
- SCF(Skp2)-mediated degradation of p27/p21
- deletions in the AMER1 gene destabilize the destruction complex
- AMER1 mutants destabilize the destruction complex
- Signaling by NOTCH1 PEST Domain Mutants in Cancer
- Interleukin-1 signaling
- Cyclin A:Cdk2-associated events at S phase entry
- SCF(Skp2)-mediated degradation of p27/p21
- Mitotic G2-G2/M phases
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Adaptive Immune System
- Antigen processing: Ubiquitination & Proteasome degradation
- Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
- HIV Infection
- APC truncation mutants have impaired AXIN binding
- G2/M Transition
- APC truncation mutants are not K63 polyubiquitinated
- S37 mutants of beta-catenin aren't phosphorylated
- Signaling by NOTCH1
- Class I MHC mediated antigen processing & presentation
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- FBXW7 Mutants and NOTCH1 in Cancer
- Vpu mediated degradation of CD4
- G1 Phase
- Cytokine Signaling in Immune system
- Cell Cycle, Mitotic
- NOTCH1 Intracellular Domain Regulates Transcription
- Cyclin D associated events in G1
- Nuclear signaling by ERBB4
- Activation of NF-kappaB in B cells
- SCF-beta-TrCP mediated degradation of Emi1
- Regulation of mitotic cell cycle
- Signaling by Hedgehog
- deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling
- Degradation of GLI1 by the proteasome
- Signaling by WNT in cancer
- GLI3 is processed to GLI3R by the proteasome
- Degradation of GLI2 by the proteasome
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SLAMF1 and SH2D1B |
signaling lymphocytic activation molecule family member 1 |
SH2 domain containing 1B |
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SLC9A1 and TNIK |
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 |
TRAF2 and NCK interacting kinase |
- MPS IIIB - Sanfilippo syndrome B
- Diseases of glycosylation
- Defective B4GALT7 causes EDS, progeroid type
- MPS I - Hurler syndrome
- MPS IX - Natowicz syndrome
- Transport of inorganic cations/anions and amino acids/oligopeptides
- Defective SLC26A2 causes chondrodysplasias
- Glycosaminoglycan metabolism
- SLC-mediated transmembrane transport
- Hyaluronan uptake and degradation
- Defective CHST14 causes EDS, musculocontractural type
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
- Defective PAPSS2 causes SEMD-PA
- MPS IIIA - Sanfilippo syndrome A
- Myoclonic epilepsy of Lafora
- Glycogen storage diseases
- Hyaluronan metabolism
- MPS IIID - Sanfilippo syndrome D
- Defective CHST6 causes MCDC1
- MPS IIIC - Sanfilippo syndrome C
- Diseases associated with glycosaminoglycan metabolism
- Sodium/Proton exchangers
- Mucopolysaccharidoses
- Defective EXT2 causes exostoses 2
- MPS II - Hunter syndrome
- Defective CHST3 causes SEDCJD
- Defective B3GAT3 causes JDSSDHD
- Defective EXT1 causes exostoses 1, TRPS2 and CHDS
- MPS IV - Morquio syndrome A
- MPS IV - Morquio syndrome B
- Defective CHSY1 causes TPBS
- MPS VII - Sly syndrome
- Metabolism of carbohydrates
- MPS VI - Maroteaux-Lamy syndrome
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- Oxidative Stress Induced Senescence
- Cellular Senescence
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- Amiloride
- Homoserine Lactone
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SLC9A1 and MAP4K4 |
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 |
mitogen-activated protein kinase kinase kinase kinase 4 |
- MPS IIIB - Sanfilippo syndrome B
- Diseases of glycosylation
- Defective B4GALT7 causes EDS, progeroid type
- MPS I - Hurler syndrome
- MPS IX - Natowicz syndrome
- Transport of inorganic cations/anions and amino acids/oligopeptides
- Defective SLC26A2 causes chondrodysplasias
- Glycosaminoglycan metabolism
- SLC-mediated transmembrane transport
- Hyaluronan uptake and degradation
- Defective CHST14 causes EDS, musculocontractural type
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
- Defective PAPSS2 causes SEMD-PA
- MPS IIIA - Sanfilippo syndrome A
- Myoclonic epilepsy of Lafora
- Glycogen storage diseases
- Hyaluronan metabolism
- MPS IIID - Sanfilippo syndrome D
- Defective CHST6 causes MCDC1
- MPS IIIC - Sanfilippo syndrome C
- Diseases associated with glycosaminoglycan metabolism
- Sodium/Proton exchangers
- Mucopolysaccharidoses
- Defective EXT2 causes exostoses 2
- MPS II - Hunter syndrome
- Defective CHST3 causes SEDCJD
- Defective B3GAT3 causes JDSSDHD
- Defective EXT1 causes exostoses 1, TRPS2 and CHDS
- MPS IV - Morquio syndrome A
- MPS IV - Morquio syndrome B
- Defective CHSY1 causes TPBS
- MPS VII - Sly syndrome
- Metabolism of carbohydrates
- MPS VI - Maroteaux-Lamy syndrome
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- Oxidative Stress Induced Senescence
- Cellular Senescence
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- Amiloride
- Homoserine Lactone
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