| ANK2 |
ankyrin 2 |
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- COPI-mediated anterograde transport
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
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| DCAF12 |
DDB1 and CUL4 associated factor 12 |
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| DNAJB5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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| GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
- Sialic acid metabolism
- Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
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- Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
- Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM)
- Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
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| ITPR3 |
inositol 1,4,5-trisphosphate receptor type 3 |
- PLC beta mediated events
- Effects of PIP2 hydrolysis
- Elevation of cytosolic Ca2+ levels
- DAG and IP3 signaling
- Role of phospholipids in phagocytosis
- FCERI mediated Ca+2 mobilization
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Ca2+ pathway
- Regulation of insulin secretion
- VEGFR2 mediated cell proliferation
- Ion homeostasis
- Ion homeostasis
- CLEC7A (Dectin-1) induces NFAT activation
- FCGR3A-mediated IL10 synthesis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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| NFX1 |
nuclear transcription factor, X-box binding 1 |
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| PDZD11 |
PDZ domain containing 11 |
- Biotin transport and metabolism
- Vitamin B5 (pantothenate) metabolism
- Transport of vitamins, nucleosides, and related molecules
- Ion influx/efflux at host-pathogen interface
- Ion transport by P-type ATPases
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| PHF24 |
PHD finger protein 24 |
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| RECK |
reversion inducing cysteine rich protein with kazal motifs |
- Post-translational modification: synthesis of GPI-anchored proteins
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| RUSC2 |
RUN and SH3 domain containing 2 |
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| SPAG8 |
sperm associated antigen 8 |
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| SPINK4 |
serine peptidase inhibitor Kazal type 4 |
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| VCP |
valosin containing protein |
- Translesion Synthesis by POLH
- HSF1 activation
- ABC-family proteins mediated transport
- N-glycan trimming in the ER and Calnexin/Calreticulin cycle
- Hedgehog ligand biogenesis
- Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
- Defective CFTR causes cystic fibrosis
- Josephin domain DUBs
- Ovarian tumor domain proteases
- Neutrophil degranulation
- E3 ubiquitin ligases ubiquitinate target proteins
- Protein methylation
- Aggrephagy
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- Phosphoaminophosphonic Acid-Adenylate Ester
- Phenethyl Isothiocyanate
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- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
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