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AAAS | achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system (546 aa) | |||
RHBDD3 | rhomboid domain containing 3 (386 aa) | |||
DHRS7 | dehydrogenase/reductase (SDR family) member 7 (339 aa) | |||
LRRC8A | leucine rich repeat containing 8 family, member A; Involved in B-cell development. Required for the pro-B cell to pre-B cell transition (By similarity) (810 aa) | |||
ADCY3 | adenylate cyclase 3; Mediates odorant detection (possibly) via modulation of intracellular cAMP concentration (1144 aa) | |||
POPDC2 | popeye domain containing 2; May play an important role in heart development (364 aa) | |||
SLC12A7 | solute carrier family 12 (potassium/chloride transporters), member 7; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters’ cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity) (1083 aa) | |||
SLC12A9 | solute carrier family 12 (potassium/chloride transporters), member 9 (914 aa) | |||
BTG2 | BTG family, member 2; Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenyltion in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth (158 aa) | |||
ADCY9 | adenylate cyclase 9; May play a fundamental role in situations where fine interplay between intracellular calcium and cAMP determines the cellular function. May be a physiologically relevant docking site for calcineurin (By similarity) (1353 aa) | |||
ATP13A2 | ATPase type 13A2; May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity (1180 aa) | |||
ATP11C | ATPase, class VI, type 11C (1132 aa) | |||
ARHGEF25 | Rho guanine nucleotide exchange factor (GEF) 25; May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11- coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity) (619 aa) | |||
PCNXL3 | pecanex-like 3 (Drosophila) (2034 aa) | |||
ANK2 | ankyrin 2, neuronal; In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner se [...] (3957 aa) | |||
VANGL2 | vang-like 2 (van gogh, Drosophila); Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process (By similarity) (521 aa) | |||
LRRC8C | leucine rich repeat containing 8 family, member C; May play a role in adipogenesis (By similarity) (803 aa) | |||
ANO6 | anoctamin 6; Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes (931 aa) | |||
TPCN1 | two pore segment channel 1; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane (888 aa) | |||
C17orf49 | chromosome 17 open reading frame 49; Component of chromatin complexes such as the MLL1/MLL and NURF complexes (192 aa) |