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C16orf70 | chromosome 16 open reading frame 70 (422 aa) | |||
LIN7B | lin-7 homolog B (C. elegans); Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may [...] (207 aa) | |||
EPAS1 | endothelial PAS domain protein 1; Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5’-[AG]CGTG-3’ within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of transcript [...] (870 aa) | |||
APBA1 | amyloid beta (A4) precursor protein-binding, family A, member 1 (837 aa) | |||
NDUFB10 | NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (172 aa) | |||
LIN7C | lin-7 homolog C (C. elegans); Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may [...] (197 aa) | |||
EPS8 | epidermal growth factor receptor pathway substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac- specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and ac [...] (822 aa) | |||
COQ5 | coenzyme Q5 homolog, methyltransferase (S. cerevisiae); Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3- methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity) (327 aa) | |||
SPATA2 | spermatogenesis associated 2; May have a role in the regulation of spermatogenesis (520 aa) | |||
F11R | F11 receptor; Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3. The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier. Involved in platelet activation. In case of orthoreovirus infection, serves as receptor for the virus (299 aa) | |||
KCNJ4 | potassium inwardly-rectifying channel, subfamily J, member 4; This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By s [...] (445 aa) | |||
SDC2 | syndecan 2; Cell surface proteoglycan that bears heparan sulfate. Regulates dendritic arbor morphogenesis (By similarity) (201 aa) | |||
APBA3 | amyloid beta (A4) precursor protein-binding, family A, member 3; May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN (575 aa) | |||
EPS8L2 | EPS8-like 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton (715 aa) | |||
CASKIN1 | CASK interacting protein 1; May link the scaffolding protein CASK to downstream intracellular effectors (By similarity) (1431 aa) | |||
DLG1 | discs, large homolog 1 (Drosophila) (926 aa) | |||
NPAS3 | neuronal PAS domain protein 3; May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity) (933 aa) | |||
DFNB31 | deafness, autosomal recessive 31 (907 aa) | |||
PARK2 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) (465 aa) | |||
PTGS2 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase); Mediates the formation of prostaglandins from arachidonate. May have a role as a major mediator of inflammation and/or a role for prostanoid signaling in activity-dependent plasticity (604 aa) | |||
UIMC1 | ubiquitin interaction motif containing 1 (719 aa) | |||
CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) (921 aa) | |||
TBR1 | T-box, brain, 1; Probable transcriptional regulator involved in developmental processes. TBR1 is required for normal brain development (682 aa) | |||
LIN7A | lin-7 homolog A (C. elegans); Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may [...] (233 aa) | |||
PPFIA2 | protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2; Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (1257 aa) | |||
APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2; Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP (749 aa) |