ELN and SPINK1 |
elastin |
serine peptidase inhibitor Kazal type 1 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and FCN1 |
elastin |
ficolin 1 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Lectin pathway of complement activation
- Initial triggering of complement
- Ficolins bind to repetitive carbohydrate structures on the target cell surface
- Neutrophil degranulation
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and LYZ |
elastin |
lysozyme |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Neutrophil degranulation
- Antimicrobial peptides
- Amyloid fiber formation
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- L-Aspartic Acid
- (R)-Propylene glycol
- 4-Methylumbelliferyl Chitobiose
- Sucrose
- Arsanilic acid
- Di(N-Acetyl-D-Glucosamine)
- Para-Toluene Sulfonate
- Propyl alcohol
- Cu-Cyclam
- 3-Aminosuccinimide
- Dodecyl Sulfate
- Chitotriose
- Methylumbelliferyl Chitotriose
- UNDECA-3,7-DIENE-1,3,7,11-TETRACARBALDEHYDE
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and FKBP10 |
elastin |
FKBP prolyl isomerase 10 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and NID2 |
elastin |
nidogen 2 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Laminin interactions
- Laminin interactions
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and MTDH |
elastin |
metadherin |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and MFAP2 |
elastin |
microfibril associated protein 2 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and LOX |
elastin |
lysyl oxidase |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Elastic fibre formation
- Crosslinking of collagen fibrils
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and FBLN1 |
elastin |
fibulin 1 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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- Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses
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ELN and LGALS3 |
elastin |
galectin 3 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Neutrophil degranulation
- Advanced glycosylation endproduct receptor signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX2 regulates genes involved in differentiation of myeloid cells
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- 2,3,5,6-Tetrafluoro-4-Methoxy-Benzamide
- Lactose
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and PRTN3 |
elastin |
proteinase 3 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Common Pathway of Fibrin Clot Formation
- Other interleukin signaling
- Neutrophil degranulation
- Antimicrobial peptides
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and FBN1 |
elastin |
fibrillin 1 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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- Ectopia lentis
- Shprintzen-Goldberg syndrome
- MASS phenotype
- Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS
- Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome
- Geleophysic dysplasia
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ELN and FBN2 |
elastin |
fibrillin 2 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Calcium Citrate
- Calcium Phosphate
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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- Congenital contractural arachnodactyly (CCA) ; Beals syndrome
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ELN and MAGEH1 |
elastin |
MAGE family member H1 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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ELN and FBLN2 |
elastin |
fibulin 2 |
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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EMD and LMNA |
emerin |
lamin A/C |
- Nuclear Envelope Breakdown
- Initiation of Nuclear Envelope (NE) Reformation
- Depolymerisation of the Nuclear Lamina
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- Emery-Dreifuss muscular dystrophy
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- Restrictive dermopathy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Mandibuloacral dysplasia
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
- Limb-girdle muscular dystrophy (LGMD)
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Hutchinson-Gilford progeria syndrome
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MARK2 and YWHAZ |
microtubule affinity regulating kinase 2 |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
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- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Deactivation of the beta-catenin transactivating complex
- Rap1 signalling
- GP1b-IX-V activation signalling
- KSRP (KHSRP) binds and destabilizes mRNA
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
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MARK2 and PINK1 |
microtubule affinity regulating kinase 2 |
PTEN induced kinase 1 |
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- Pink/Parkin Mediated Mitophagy
- FOXO-mediated transcription of cell death genes
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ENO1 and YWHAZ |
enolase 1 |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Glycolysis
- Gluconeogenesis
- Manipulation of host energy metabolism
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- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Deactivation of the beta-catenin transactivating complex
- Rap1 signalling
- GP1b-IX-V activation signalling
- KSRP (KHSRP) binds and destabilizes mRNA
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
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EP300 and NOXA1 |
E1A binding protein p300 |
NADPH oxidase activator 1 |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- RORA activates gene expression
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- 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
- 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
- Circadian Clock
- Circadian Clock
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- 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
- 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
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- RHO GTPases Activate NADPH Oxidases
- WNT5:FZD7-mediated leishmania damping
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- Rubinstein-Taybi syndrome
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