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LAMB2 |
laminin subunit beta 2 |
- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- MET activates PTK2 signaling
- Post-translational protein phosphorylation
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LSM4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
- mRNA decay by 5' to 3' exoribonuclease
- mRNA decay by 5' to 3' exoribonuclease
- mRNA Splicing - Major Pathway
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MAX |
MYC associated factor X |
- Transcription of E2F targets under negative control by DREAM complex
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional Regulation by E2F6
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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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PLEC |
plectin |
- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
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- 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
- Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB); Epidermolysis bullosa simplex with pyloric atresia (EBS-PA); Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD); Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
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PLEKHA6 |
pleckstrin homology domain containing A6 |
- Synthesis of PIPs at the plasma membrane
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PPP1R13B |
protein phosphatase 1 regulatory subunit 13B |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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PROM1 |
prominin 1 |
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- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
- Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
- Stargardt disease (STGD); Fundus flavimaculatus
- Retinitis pigmentosa (RP)
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SH3BP5L |
SH3 binding domain protein 5 like |
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SOGA1 |
suppressor of glucose, autophagy associated 1 |
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
- Caspase-mediated cleavage of cytoskeletal proteins
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- RAF/MAP kinase cascade
- Neutrophil degranulation
- COPI-mediated anterograde transport
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- Early infantile epileptic encephalopathy; Ohtahara syndrome
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- RAF/MAP kinase cascade
- COPI-mediated anterograde transport
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 fusion proteins
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- Calcium
- 1D-myo-inositol 1,4,5-trisphosphate
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SRPK2 |
SRSF protein kinase 2 |
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- Adenine
- Purvalanol
- Phosphoaminophosphonic Acid-Adenylate Ester
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UPF1 |
UPF1 RNA helicase and ATPase |
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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WASH2P |
WASP family homolog 2, pseudogene |
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YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- 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
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- AURKA Activation by TPX2
- Regulation of localization of FOXO transcription factors
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