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| | BBS10 | Bardet-Biedl syndrome 10. (721 aa) |
| | POC1B | POC1 centriolar protein B. (478 aa) |
| | MAK | Male germ cell associated kinase. (692 aa) |
| | SRF | Serum response factor. (512 aa) |
| | ADGRF5 | Adhesion G protein-coupled receptor F5; Belongs to the G-protein coupled receptor 2 family. (1340 aa) |
| | IL17A | Interleukin-17A; Ligand for IL17RA and IL17RC. The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC. Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines. Belongs to the IL-17 family. (153 aa) |
| | CTSH | Cathepsin H heavy chain; Important for the overall degradation of proteins in lysosomes; Belongs to the peptidase C1 family. (335 aa) |
| | SPATA7 | Spermatogenesis-associated protein 7 isoform 1. (576 aa) |
| | PTH1R | Parathyroid hormone/parathyroid hormone-related peptide receptor; Receptor for parathyroid hormone and for parathyroid hormone- related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Belongs to the G-protein coupled receptor 2 family. (641 aa) |
| | BBS12 | Bardet-Biedl syndrome 12. (714 aa) |
| | AKT3 | Non-specific serine/threonine protein kinase; Belongs to the protein kinase superfamily. (500 aa) |
| | RP1 | RP1 axonemal microtubule associated. (2142 aa) |
| | STK39 | Serine/threonine kinase 39. (582 aa) |
| | CDHR1 | Cadherin-related family member 1 isoform 1. (856 aa) |
| | ANKRD31 | Ankyrin repeat domain 31. (1501 aa) |
| | MFSD2A | Major facilitator superfamily domain containing 2A. (541 aa) |
| | BBS4 | Uncharacterized protein. (826 aa) |
| | CNGB1 | Cyclic nucleotide-binding domain-containing protein. (1165 aa) |
| | LSR | Lipolysis stimulated lipoprotein receptor. (598 aa) |
| | BAX | Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; Belongs to the Gfo/Idh/MocA family. (480 aa) |
| | PTPN11 | Tyrosine-protein phosphatase non-receptor type; Belongs to the protein-tyrosine phosphatase family. Non- receptor class 2 subfamily. (597 aa) |
| | CROCC | Ciliary rootlet coiled-coil, rootletin. (1966 aa) |
| | RPE65 | Retinoid isomerohydrolase RPE65. (533 aa) |
| | USP45 | Ubiquitin carboxyl-terminal hydrolase; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Belongs to the peptidase C19 family. (817 aa) |
| | CLDN5 | Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family. (218 aa) |
| | STRAP | Serine-threonine kinase receptor-associated protein. (350 aa) |
| | MTF1 | Metal regulatory transcription factor 1. (747 aa) |
| | IL7 | Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation; Belongs to the IL-7/IL-9 family. (176 aa) |
| | VSTM4 | V-set and transmembrane domain containing 4. (382 aa) |
| | MBP | Myelin basic protein; Is, with PLP, the most abundant protein component of the myelin membrane in the CNS. Has a role in both the formation and stabilization of this compact multilayer arrangement of bilayers. Each splice variant and charge isomer may have a specialized function in the assembly of an optimized, biochemically functional myelin membrane (By similarity). (295 aa) |
| | IQCB1 | IQ motif containing B1. (600 aa) |
| | LDB2 | LIM domain binding 2. (356 aa) |
| | SLC28A2 | Sodium/nucleoside cotransporter; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. (704 aa) |
| | SH3GL2 | SH3 domain containing GRB2 like 2, endophilin A1. (352 aa) |
| | TRIM32 | Tripartite motif containing 32. (652 aa) |
| | CRB2 | Crumbs cell polarity complex component 2. (1283 aa) |
| | EXT1 | Exostosin glycosyltransferase 1; Belongs to the glycosyltransferase 47 family. (746 aa) |
| | PRDM14 | PR/SET domain 14. (571 aa) |
| | ABCA4 | ATP binding cassette subfamily A member 4. (2320 aa) |
| | MKKS | McKusick-Kaufman syndrome. (570 aa) |
| | EPAS1 | Uncharacterized protein. (870 aa) |
| | CYTL1 | Cytokine like 1. (149 aa) |
| | RB1 | RB transcriptional corepressor 1. (938 aa) |
| | TNFSF11 | TNF superfamily member 11; Belongs to the tumor necrosis factor family. (319 aa) |
| | PTK2B | Protein tyrosine kinase 2 beta; Belongs to the protein kinase superfamily. Tyr protein kinase family. (1009 aa) |
| | P2RX7 | P2X purinoceptor; Receptor for ATP that acts as a ligand-gated ion channel. Belongs to the P2X receptor family. (595 aa) |
| | HNF1A | Hepatocyte nuclear factor 1-alpha isoform 2. (631 aa) |
| | CDH23 | Cadherin related 23. (3354 aa) |
| | ERCC6 | ERCC excision repair 6, chromatin remodeling factor. (1462 aa) |
| | LIPA | Lipase A, lysosomal acid type. (450 aa) |
| | LDB1 | LID domain-containing protein. (411 aa) |
| | CRB1 | Crumbs cell polarity complex component 1. (1464 aa) |
| | TLR9 | Toll-like receptor 9; Key component of innate and adaptive immunity. TLRs (Toll- like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine- phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Upon CpG stimulation, induces B-cell proliferation, activation, survival and antibody production (By similarity). (1030 aa) |
| | VHL | Von Hippel-Lindau disease tumor suppressor isoform 1. (205 aa) |
| | RHO | Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change that activates signaling via G-proteins. Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (By similarity). (348 aa) |
| | WWTR1 | WW domain containing transcription regulator 1. (398 aa) |
| | MUC13 | Uncharacterized protein. (537 aa) |
| | SASH3 | SAM and SH3 domain containing 3. (420 aa) |
| | TCIRG1 | V-type proton ATPase subunit a; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase. (862 aa) |
| | USH1C | USH1 protein network component harmonin. (858 aa) |
| | PTH | Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D- glucose (2DG) transport and glycogen synthesis in osteoblastic cells (By similarity). (115 aa) |
| | STK11 | Serine/threonine kinase 11; Belongs to the protein kinase superfamily. (438 aa) |
| | ACP5 | Tartrate-resistant acid phosphatase type 5; Uteroferrin is a phosphoprotein phosphatase, synthesized in response to progesterone. It appears to function in transplacental transport of iron in pig. (373 aa) |
| | COMP | Cartilage oligomeric matrix protein. (756 aa) |
| | IHH | Hedgehog protein; Intercellular signal essential for a variety of patterning events during development. (454 aa) |
| | SMO | Smoothened, frizzled class receptor; Belongs to the G-protein coupled receptor Fz/Smo family. (783 aa) |
| | SNX10 | Sorting nexin-10 isoform 1. (200 aa) |
| | LPCAT1 | Lysophosphatidylcholine acyltransferase 1. (534 aa) |
| | USH1G | USH1 protein network component sans. (461 aa) |
| | SOX9 | Transcription factor SOX-9; Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219. (511 aa) |
| | NKIRAS2 | NF-kappa-B inhibitor-interacting Ras-like protein 2 isoform a. (191 aa) |
| | MKS1 | MKS transition zone complex subunit 1. (557 aa) |
| | ATP1B2 | Sodium/potassium-transporting ATPase subunit beta; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Belongs to the X(+)/potassium ATPases subunit beta family. (289 aa) |
| | TPP1 | Tripeptidyl-peptidase 1 preproprotein. (572 aa) |
| | ILDR1 | Immunoglobulin like domain containing receptor 1. (595 aa) |
| | KRAS | KRAS proto-oncogene, GTPase. (189 aa) |
| | CDH3 | Cadherin-3; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. (826 aa) |
| | GATA1 | Erythroid transcription factor. (412 aa) |
| | DRAM2 | DNA damage-regulated autophagy modulator protein 2 isoform X1. (266 aa) |
| | AIPL1 | Aryl hydrocarbon receptor interacting protein like 1. (328 aa) |
| | NPHP4 | Nephrocystin 4. (1466 aa) |
| | TFF3 | Trefoil factor 3; Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen) (By similarity). (109 aa) |
| | CCDC154 | Coiled-coil domain containing 154. (524 aa) |
| | TFF2 | Trefoil factor 2; Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains. (165 aa) |
| | ZNF830 | Zinc finger protein 830. (367 aa) |
| | MBL2 | Mannose-binding protein C; Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. According to some authors, it only binds mannose. (239 aa) |
| | RCN3 | Reticulocalbin 3. (335 aa) |
| | HOXA13 | Homeobox A13. (388 aa) |
| | ALDH1A1 | Aldehyde dehydrogenase 1 family member A1; Belongs to the aldehyde dehydrogenase family. (501 aa) |
| | SOD1 | Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems; Belongs to the Cu-Zn superoxide dismutase family. (155 aa) |
| | BBS2 | Bardet-Biedl syndrome 2 protein homolog. (727 aa) |
| | TP53INP2 | Tumor protein p53 inducible nuclear protein 2. (209 aa) |
| | GNAS | Guanine nucleotide-binding protein G(s) subunit alpha; Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein- coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. Stimulates the Ras signaling pathway via RAPGEF2. (1045 aa) |
| | KDR | Kinase insert domain receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. (1360 aa) |
| | SRC | Tyrosine-protein kinase. (559 aa) |
| | TGFB1 | Transforming growth factor beta-1 proprotein; Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form fo [...] (390 aa) |
| | NOX4 | NADPH oxidase 4. (578 aa) |
| | NCDN | Neurochondrin. (712 aa) |
| | TUB | Tubby-like protein; Belongs to the TUB family. (585 aa) |
| | CTNNB1 | Catenin beta 1. (808 aa) |
| | LRRC45 | Leucine rich repeat containing 45. (674 aa) |
| | ILDR2 | Immunoglobulin like domain containing receptor 2. (641 aa) |
| | VPS54 | Vacuolar protein sorting-associated protein 54 isoform 1. (977 aa) |
| | NXNL2 | Nucleoredoxin like 2. (156 aa) |
| | ANKRD12 | Ankyrin repeat domain-containing protein 12 isoform X1. (2032 aa) |
| | YAP1 | Yes associated protein 1. (432 aa) |
| | WHRN | Whirlin. (920 aa) |
| | COL3A1 | Collagen alpha-1(III) chain preproprotein. (1471 aa) |
| | HOMER1 | Homer scaffold protein 1. (365 aa) |
| | BAP1 | BRCA1 associated protein 1. (759 aa) |
| | ADD1 | Adducin 1. (786 aa) |
| | CXADR | Uncharacterized protein. (419 aa) |
| | TRAF6 | TNF receptor-associated factor 6; E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as IKBKG, IRAK1, AKT1 and AKT2. Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation. Mediates activation of NF-kappa-B and JUN. May be essential for the formation of functional osteoclasts. Seems to also play a role in dendritic cells (DCs) maturation and/or activation. Represses c-Myb-mediated transactivation, in B-lymphocytes. Adapter protein that seems to [...] (541 aa) |
| | CLCN3 | Chloride channel protein. (866 aa) |
| | F2R | G_PROTEIN_RECEP_F1_2 domain-containing protein; Belongs to the G-protein coupled receptor 1 family. (427 aa) |
| | NANOS1 | Nanos C2HC-type zinc finger 1; Belongs to the nanos family. (284 aa) |
| | CORO1A | Coronin; Belongs to the WD repeat coronin family. (492 aa) |
| | BBS1 | Bardet-Biedl syndrome 1 protein. (593 aa) |
| | COL2A1 | Collagen type II alpha 1 chain. (1486 aa) |
| | CCN2 | CCN family member 2; Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes (By similarity). Mediates heparin- and divalent cation- dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells (By similarity). Enhances fibroblast growth factor-induced DNA synthesis (By similarity). (354 aa) |
| | CROCC2 | Ciliary rootlet coiled-coil, rootletin family member 2. (1566 aa) |
| | PIWIL4 | Piwi like RNA-mediated gene silencing 4; Belongs to the argonaute family. (906 aa) |
| | RBP4 | Retinol-binding protein 4; Retinol-binding protein that mediates retinol transport in blood plasma. Delivers retinol from the liver stores to the peripheral tissues. Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane. Belongs to the calycin superfamily. Lipocalin family. (238 aa) |
| | SLC39A8 | Solute carrier family 39 member 8. (461 aa) |
| | GPR55 | G-protein coupled receptor 55; Belongs to the G-protein coupled receptor 1 family. (361 aa) |
| | GCNT2 | Glucosaminyl (N-acetyl) transferase 2 (I blood group). (402 aa) |
| | XIAP | X-linked inhibitor of apoptosis. (514 aa) |
| | NKIRAS1 | NF-kappa-B inhibitor-interacting Ras-like protein 1 isoform X1. (192 aa) |
| | LRRK1 | Leucine rich repeat kinase 1. (2030 aa) |
| | TJP3 | Tight junction protein 3; Belongs to the MAGUK family. (1024 aa) |
| | NAPSA | Napsin A aspartic peptidase; Belongs to the peptidase A1 family. (416 aa) |
| | TULP1 | Tubby-like protein; Belongs to the TUB family. (535 aa) |
| | KMT2A | Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. (4000 aa) |
| | OCLN | Occludin; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. Belongs to the ELL/occludin family. (533 aa) |
| | CRACD | KIAA1211. (1294 aa) |
| | ADGRV1 | Adhesion G protein-coupled receptor V1. (6313 aa) |
| | FH | Fumarate hydratase, mitochondrial; Catalyzes the reversible stereospecific interconversion of fumarate to L-malate. Experiments in different species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable). [Isoform Cytoplasmic]: Catalyzes the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism (By similarity). Also plays a role in DNA repair by promoting non-homolog [...] (466 aa) |
| | ACACA | Acetyl-CoA carboxylase alpha. (2383 aa) |
| | TFF1 | P-type domain-containing protein. (86 aa) |
| | NXNL1 | Nucleoredoxin like 1. (214 aa) |
| | NOS3 | Nitric oxide synthase, endothelial; Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets (By similarity). (1239 aa) |
| | ADRB2 | Beta-2 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30- fold greater affinity than it does norepinephrine (By similarity). (418 aa) |
| | NOTCH1 | Neurogenic locus notch homolog protein 1 preproprotein. (2560 aa) |
| | PROM1 | Prominin 1. (838 aa) |
| | HOMER2 | Homer scaffold protein 2. (343 aa) |
| | SCX | Basic helix-loop-helix transcription factor scleraxis. (310 aa) |
| | CLRN1 | Clarin 1. (232 aa) |
| | USH2A | Uncharacterized protein. (1544 aa) |
| | TJP2 | Uncharacterized protein; Belongs to the MAGUK family. (1187 aa) |
| | LCA5 | Lebercilin isoform X1. (700 aa) |
| | KLHL10 | Kelch like family member 10. (608 aa) |
| | NPHP3 | TPR_REGION domain-containing protein. (1368 aa) |
| | TJP1 | Tight junction protein 1; Belongs to the MAGUK family. (1862 aa) |
| | CLN8 | CLN8 transmembrane ER and ERGIC protein. (416 aa) |
| | PBLD | Phenazine biosynthesis like protein domain containing. (322 aa) |
| | NOD2 | Uncharacterized protein. (1013 aa) |
| | RAB3D | RAB3D, member RAS oncogene family. (218 aa) |
| | CD7 | Ig-like domain-containing protein. (206 aa) |
| | ABCA12 | ATP binding cassette subfamily A member 12. (2593 aa) |
| | CSF1 | Colony stimulating factor 1. (656 aa) |
| | SFTPD | Pulmonary surfactant-associated protein D; Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha- glucosyl moieties (By similarity); Belongs to the SFTPD family. (386 aa) |
| | PRLH | Prolactin releasing hormone. (87 aa) |
| | COL11A2 | Collagen type XI alpha 2 chain. (1796 aa) |
