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Novel |
ARHGEF5 |
Rho guanine nucleotide exchange factor 5 |
- NRAGE signals death through JNK
- Rho GTPase cycle
- G alpha (12/13) signalling events
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Novel |
ZBED8 |
zinc finger BED-type containing 8 |
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AIMP2 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
- Selenoamino acid metabolism
- Cytosolic tRNA aminoacylation
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BAG2 |
BAG cochaperone 2 |
- Regulation of HSF1-mediated heat shock response
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CCDC85B |
coiled-coil domain containing 85B |
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CEP70 |
centrosomal protein 70 |
- 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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DEF6 |
DEF6 guanine nucleotide exchange factor |
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FHL3 |
four and a half LIM domains 3 |
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GOLGA2 |
golgin A2 |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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GTF2I |
general transcription factor IIi |
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- SUMOylation of immune response proteins
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- CLEC7A (Dectin-1) signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
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- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Incontinentia pigmenti
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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JMJD6 |
jumonji domain containing 6, arginine demethylase and lysine hydroxylase |
- HDMs demethylate histones
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KDM1A |
lysine demethylase 1A |
- HDACs deacetylate histones
- HDMs demethylate histones
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- Potential therapeutics for SARS
- Factors involved in megakaryocyte development and platelet production
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KRT40 |
keratin 40 |
- Keratinization
- Formation of the cornified envelope
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LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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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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LONRF1 |
LON peptidase N-terminal domain and ring finger 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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LZTS2 |
leucine zipper tumor suppressor 2 |
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MCC |
MCC regulator of WNT signaling pathway |
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NFKBID |
NFKB inhibitor delta |
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NSD3 |
nuclear receptor binding SET domain protein 3 |
- PKMTs methylate histone lysines
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