{ "uniprot_canonical_ac": "A1X283-1", "sequence": { "header": "sp|A1X283-1|SPD2B_HUMAN Isoform 1 of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=3 CANONICAL=A1X283-1", "length": 911, "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP" }, "uniprot_id": "SPD2B_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "SH3 and PX domain-containing protein 2B isoform a", "adapter protein HOFI; adaptor protein HOFI; tyrosine kinase substrate with four SH3 domains; factor for adipocyte differentiation 49" ], "uniprotkb": [ "SH3 and PX domain-containing protein 2B", "Adapter protein HOFI", "Tyrosine kinase substrate with four SH3 domains", "Factor for adipocyte differentiation 49" ] }, "gene": { "refseq": [ "SH3PXD2B", "FAD49", "FTHS", "HOFI", "KIAA1295", "TKS4", "TSK4" ], "uniprotkb": [ "SH3PXD2B", "FAD49", "KIAA1295", "TKS4", "FTHS", "HOFI", "TSK4" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "SH3 and PX domain-containing protein 2B; Adapter protein HOFI; Tyrosine kinase substrate with four SH3 domains; Factor for adipocyte differentiation 49." }, "publication": [ { "title": "EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29928795", "journal": "Biochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Dulk M, Szeder B, Glatz G, Mero BL, Koprivanacz K, Kudlik G, Vas V, Sipeki S, Cserkaszky A, Radnai L, Buday L", "date": "2018", "pmid": "29928795" }, { "title": "Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29100834", "journal": "Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Chang TC, Bauer M, Puerta HS, Greenberg MB, Cavuoto KM", "date": "2017", "pmid": "29100834" }, { "title": "The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27802184", "journal": "Oncotarget", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Iizuka S, Abdullah C, Buschman MD, Diaz B, Courtneidge SA", "date": "2016", "pmid": "27802184" }, { "title": "Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26183326", "journal": "Cell communication and signaling : CCS", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Adam C, Fekete A, Bogel G, Nemeth Z, Tokesi N, Ovadi J, Liliom K, Pesti S, Geiszt M, Buday L", "date": "2015", "pmid": "26183326" }, { "title": "Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24105366", "journal": "European journal of human genetics : EJHG", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ", "date": "2014", "pmid": "24105366" }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014", "pmid": "24129315" }, { "title": "Direct interaction between Tks proteins and the N-terminal proline-rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20609497", "journal": "Eur. J. Cell Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Bokoch G.M., Gianni D., Dermardirossian C.", "date": "2011", "pmid": "20609497" }, { "title": "Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20137777", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millan JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H", "date": "2010", "pmid": "20137777" }, { "title": "The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19144821", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Buschman MD, Bromann PA, Cejudo-Martin P, Wen F, Pass I, Courtneidge SA", "date": "2009", "pmid": "19144821" }, { "title": "Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19755710", "journal": "Sci. Signal.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Bokoch G.M., Fowler B., Courtneidge S.A., Gianni D., Diaz B., Taulet N.", "date": "2009", "pmid": "19755710" }, { "title": "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19807924", "journal": "BMC Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Janssen O., Lettau M., Voss M.", "date": "2009", "pmid": "19807924" }, { "title": "Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19228371", "journal": "BMC medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ], "authors": "Vogel CI, Greene B, Scherag A, Muller TD, Friedel S, Grallert H, Heid IM, Illig T, Wichmann HE, Schafer H, Hebebrand J, Hinney A", "date": "2009", "pmid": "19228371" }, { "title": "A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18959745", "journal": "FEBS J.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Eguchi T., Osada S., Imagawa M., Nishizuka M., Hishida T.", "date": "2008", "pmid": "18959745" }, { "title": "The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12615925", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283/publications", "id": "A1X283", "database": "UniProtKB" } ], "authors": "Abram C.L., Courtneidge S.A., Maurer L., Pass I., Roth T.M., Salinsky D., Seals D.F.", "date": "2003", "pmid": "12615925" } ], "glycosylation": [], "mutation": [ { "start_pos": 222, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1X283", "id": "A1X283", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. 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(8.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 20, "type": "Point mutation" }, { "start_pos": 698, "subjects_positive": "3", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1X283", "id": "A1X283", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "Q", "subjects_tested": "672", "end_pos": 698, "type": "Point mutation" }, { "start_pos": 1, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1X283", "id": "A1X283", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "M", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 1, "type": "Point mutation" }, { "start_pos": 31, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1X283", "id": "A1X283", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "A", "subjects_tested": "50", "end_pos": 31, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1X283#A1X283-1", "isoform_ac": "A1X283-1", "locus": { "end_pos": 172338372, "start_pos": 172454352, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000311601", "id": "ENST00000311601", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000309714", "id": "ENSP00000309714", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1X283-1|SPD2B_HUMAN Isoform 1 of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=3 CANONICAL=A1X283-1", "length": 911, "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP" } }, { "url": "https://www.uniprot.org/uniprot/A1X283#H0YAU1-1", "isoform_ac": "H0YAU1-1", "locus": { "end_pos": 172333727, "start_pos": 172350386, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518522", "id": "ENST00000518522", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428076", "id": "ENSP00000428076", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YAU1-1|SPD2B_HUMAN Computationally mapped isoform of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1", "length": 81, "sequence": "XPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEEQWALPTTSCLLIG" } }, { "url": "https://www.uniprot.org/uniprot/A1X283#A0A1B0GUF2-1", "isoform_ac": "A0A1B0GUF2-1", "locus": { "end_pos": 172325277, "start_pos": 172454308, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000636523", "id": "ENST00000636523", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000490082", "id": "ENSP00000490082", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1B0GUF2-1|SPD2B_HUMAN Computationally mapped isoform of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1", "length": 444, "sequence": "XQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEVSWRYWSLPRPVGRRRTLGDLYAISWRQEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEDHKNVHLESPVEVPLRRIKMRTALGKHVAASMEM" } }, { "url": "https://www.uniprot.org/uniprot/A1X283#G3V144-1", "isoform_ac": "G3V144-1", "locus": { "end_pos": 172325279, "start_pos": 172454352, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519643", "id": "ENST00000519643", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430890", "id": "ENSP00000430890", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G3V144-1|SPD2B_HUMAN Computationally mapped isoform of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1", "length": 430, "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEDHKNVHLESPVEVPLRRIKMRTALGKHVAASMEM" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:285590", "resource": "KEGG Pathway", "id": "hsa:285590", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1X283#function", "annotation": "Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283#function", "id": "A1X283", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "The interaction of Tks4 with Src may result in the long term stabilization of the kinase in its active conformation, leading to prolonged Src activity following epidermal growth factor stimulation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "We report a sibling pair with Frank-ter Haar syndrome (FTHS) caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "Suggest the importance of Tks adaptor proteins in melanoma growth and metastasis in vivo is likely via functional invadopodia formation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "Misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "These findings establish a role for TKS4 in Frank-Ter Haar syndrome and embryonic development.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "id": "NP_001017995.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZAF9-1", "protein_name": "SH3 and PX domains 2B.", "sequence": { "length": 804, "sequence": "ALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGSDPTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGVVVEVIQKNLEGWWKIRFQGKEGWAPASYLKKSSGEPLPPKLGPSSSAHSGALDLDGVSRQQNAVGREKELLNNQRDGRFEGRLAPDGDVKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKSLSGWWYIQMEDKEGWAPATFIDKYKKTSSASRPNFLAPLPHEMTQLRLGEAAATENNTGPEAVGPSRPLPEAPHGAVDSGMLWSKDWKGGKEAPRKASSDLSASTGYEEISDPTQEEKPSLPPRKESIIKSEEELLERERQKMEPHRGSSPKPPGVILPMIPAKHAPLARDSKKPEPKPDKSKFPLRNDMGLECGHKVLAKEVKKPNLRPISRSKAELPEEKVEPNPQNLFLKSRPQVRPKPTPSPKTEPAQGEDQVDIYNLRSKLRPAKSQEKALLDGESHHAAGGHDTALGRSFLPGEGPGRGQDRSGRQDGLSPKETPCRAPPRPAKTTDPGPKNVPVPVQEATQQRPVVPPRRPPPPKKTSSSPLSCRPLPEVRGSQREESRAIPASGRALLVPPKAKPFLSNSSVGQDDIRGKGGLGPRIAGKVGETREKAASFLNADGPKDSLYVAVANFEGDEDTSSFQEGTVFEVREKNSSGWWFCRVLSGAPSWEGWIPSNYLRKKP" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1X283/", "id": "A1X283", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "A2AAY5-1", "protein_name": "SH3 and PX domain-containing protein 2B; Tyrosine kinase substrate with four SH3 domains; Factor for adipocyte differentiation 49.", "sequence": { "length": 908, "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGATEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGNDPTSVDPMVLEQYVVVADYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVVQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKLGPSSPAHSGALDLDGVSRHQNAMGREKELLNNQRDGRFEGRLVPDGDVKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKSLSGWWYIQMEDKEGWAPATFIDKYKKTSSASRPNFLAPLPHEMTQLRLGDAAATENNTGPEAVGPSRPLPEAPHGAVDSGMLWSKDWKGGKEAPRKASSDLSASTGYEEISDPTQEEKPSLPPRKESIIKSEEELLERERQKMEPLRGSSPKPPGMILPMIPAKHAPLARDSRKPEPKLDKSKFPLRNDMGLECGHKVLAKEVKKPNLRPISRSKAELSEEKVDPTSQNLFMKSRPQVRPKPTPSPKTEPAQSEDHVDIYNLRSKLRPAKSQEKALLDGESHHAAGSHDTALSRSFLPGEGPGHGQDRSGRQDGLSPKETPCRAPPRPAKTTDPGPKNVPVPVQEATLQQRPVVPPRRPPPPKKTSSSPLSCRPLPEVRGAQREESRVAPAAGRALLVPPKAKPFLSNSSVGQDDMRGKGGLGPRVTGKVGETREKAASFLNADGPKDSLYVAVANFEGDEDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1X283/", "id": "A1X283", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/27952", "id": "27952", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995.1", "ac": "NP_001017995.1", "name": "SH3 and PX domain-containing protein 2B isoform a; adapter protein HOFI; adaptor protein HOFI; tyrosine kinase substrate with four SH3 domains; factor for adipocyte differentiation 49.", "summary": "This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "phosphatidylinositol binding", "id": "GO:0035091" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016176", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "superoxide-generating NADPH oxidase activator activity", "id": "GO:0016176" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "SH2 domain binding", "id": "GO:0042169" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266" } ], "total": 7, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "cell junction", "id": "GO:0030054" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "podosome", "id": "GO:0002102" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "cell projection", "id": "GO:0042995" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "heart development", "id": "GO:0007507" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "extracellular matrix disassembly", "id": "GO:0022617" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "skeletal system development", "id": "GO:0001501" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "bone development", "id": "GO:0060348" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "protein localization to membrane", "id": "GO:0072657" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "eye development", "id": "GO:0001654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "superoxide metabolic process", "id": "GO:0006801" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "cranial skeletal system development", "id": "GO:1904888" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002051", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "osteoblast fate commitment", "id": "GO:0002051" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "positive regulation of adipose tissue development", "id": "GO:1904179" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060378", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "regulation of brood size", "id": "GO:0060378" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "positive regulation of gene expression", "id": "GO:0010628" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "positive regulation of fat cell differentiation", "id": "GO:0045600" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "adipose tissue development", "id": "GO:0060612" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "positive regulation of stress fiber assembly", "id": "GO:0051496" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "skeletal system morphogenesis", "id": "GO:0048705" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "positive regulation of multicellular organism growth", "id": "GO:0040018" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071800", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283", "database": "UniProtKB" } ], "name": "podosome assembly", "id": "GO:0071800" } ], "total": 18, 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