{ "uniprot_canonical_ac": "A2A2Y4-1", "sequence": { "length": 597, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" }, "uniprot_id": "FRMD3_HUMAN", "enzyme_annotation": [], "alternativenames": [ { "full": "Ovary type protein 4.1", "short": "4.1O" }, { "full": "Band 4.1-like protein 4O", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "FERM domain-containing protein 3" }, "publication": [ { "title": "Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26909942", "journal": "Genetics and molecular research : GMR", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ], "authors": "Al-waheeb S, Alwohhaib M, Abdelghani A, Al-Sharrah S, Al-Shafey E, Al-Sahow A, Alyatama N, Dashti AA, Hussain N", "date": "2016", "pmid": "26909942" }, { "title": "From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23434934", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ], "authors": "Martini S, Nair V, Patel SR, Eichinger F, Nelson RG, Weil EJ, Pezzolesi MG, Krolewski AS, Randolph A, Keller BJ, Werner T, Kretzler M", "date": "2013", "pmid": "23434934" }, { "title": "Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21698141", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ], "authors": "Freedman BI, Langefeld CD, Lu L, Divers J, Comeau ME, Kopp JB, Winkler CA, Nelson GW, Johnson RC, Palmer ND, Hicks PJ, Bostrom MA, Cooke JN, McDonough CW, Bowden DW", "date": "2011", "pmid": "21698141" }, { "title": "Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20460425", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ], "authors": "Maeda S, Araki S, Babazono T, Toyoda M, Umezono T, Kawai K, Imanishi M, Uzu T, Watada H, Suzuki D, Kashiwagi A, Iwamoto Y, Kaku K, Kawamori R, Nakamura Y", "date": "2010", "pmid": "20460425" }, { "title": "Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19252134", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ], "authors": "Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, Barati MT, Klein JB, Ng DP, Placha G, Canani LH, Bochenski J, Waggott D, Merchant ML, Krolewski B, Mirea L, Wanic K, Katavetin P, Kure M, Wolkow P, Dunn JS, Smiles A, Walker WH, Boright AP, Bull SB, Doria A, Rogus JJ, Rich SS, Warram JH, Krolewski AS", "date": "2009", "pmid": "19252134" }, { "title": "FRMD3, a novel putative tumour suppressor in NSCLC.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17260017", "journal": "Oncogene", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4/publications", "id": "A2A2Y4", "database": "UniProtKB" } ], "authors": "Haase D, Meister M, Muley T, Hess J, Teurich S, Schnabel P, Hartenstein B, Angel P", "date": "2007", "pmid": "17260017" }, { "title": "Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12601556", "journal": "J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4/publications", "id": "A2A2Y4", "database": "UniProtKB" } ], "authors": "Gu S., Ji C., Mao Y., Cheng H., Ying K., Cao G., Guo L., Ni X., Zhao R.C.", "date": "2003", "pmid": "12601556" } ], "glycosylation": [], "mutation": [ { "start_pos": 485, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Breast cancer (DOID:1612) with frequency of 1/50 (0.0200)", "sequence_org": "D", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "Y", "subjects_tested": "50", "end_pos": 485, "type": "Point mutation" }, { "start_pos": 462, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "E", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "D", "subjects_tested": "94", "end_pos": 462, "type": "Point mutation" }, { "start_pos": 444, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "E", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "K", "subjects_tested": "38", "end_pos": 444, "type": "Point mutation" }, { "start_pos": 422, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.1429", "annotation": "Somatic mutation in Hematologic cancer (DOID:2531) with frequency of 1/7 (0.1429)", "sequence_org": "R", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "Q", "subjects_tested": "7", "end_pos": 422, "type": "Point mutation" }, { "start_pos": 332, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Q", "subjects_tested": "94", "end_pos": 332, "type": "Point mutation" }, { "start_pos": 186, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 186, "type": "Point mutation" }, { "start_pos": 166, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "D", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "Y", "subjects_tested": "38", "end_pos": 166, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-1", "isoform_ac": "A2A2Y4-1", "locus": { "end_pos": 83247921, "start_pos": 83538231, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000304195", "id": "ENST00000304195", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000303508", "id": "ENSP00000303508", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 597, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#Q5JV61-1", "isoform_ac": "Q5JV61-1", "locus": { "end_pos": 83297774, "start_pos": 83311966, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000431299", "id": "ENST00000431299", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000412719", "id": "ENSP00000412719", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 140, "sequence": "GTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRCVQKKICSCFGVTW" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-2", "isoform_ac": "A2A2Y4-2", "locus": { "end_pos": 83243205, "start_pos": 83538231, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000376438", "id": "ENST00000376438", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000365621", "id": "ENSP00000365621", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 556, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-3", "isoform_ac": "A2A2Y4-3", "locus": { "end_pos": 83243205, "start_pos": 83331865, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000376434", "id": "ENST00000376434", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000365617", "id": "ENSP00000365617", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 362, "sequence": "MVFRRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-4", "isoform_ac": "A2A2Y4-4", "locus": { "end_pos": 83243205, "start_pos": 83267177, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000328788", "id": "ENST00000328788", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000328615", "id": "ENSP00000328615", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 213, "sequence": "MQAEETKGIGITSMAKCLVKIQTRRSLQLHMVNHCNSNVFVRLLRLGSKVTARNTGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-5", "isoform_ac": "A2A2Y4-5", "locus": { "end_pos": 83247921, "start_pos": 83467632, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000621208", "id": "ENST00000621208", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000484839", "id": "ENSP00000484839", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 553, "sequence": "MQLSKRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:257019", "resource": "KEGG Pathway", "id": "hsa:257019", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4#function", "annotation": "Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4#function", "id": "A2A2Y4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05). Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "Model for FRMD3 in diabetic nephropathy proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "These analyses reveal a role for FRMD3 in AA T2DN susceptibility.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "annotation": "Identify FRMD3 as a novel putative tumour suppressor gene suggesting an important role in the origin and progression of lung cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "id": "NP_777598.3", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZR47-1", "protein_name": "", "sequence": { "length": 500, "sequence": "MFASCHCAPRGRRTMKMIHFRSSSIKSLNQEMKCTIRLLDDSEVSCRIQRETKGQFLIEYICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKSSPYTMCFRVKFTHEPLKIKELTRYLLYLQIKRDIFHGRLLCSFTDAAYLGACIVQAEFGDYYPDEHPENYISEFEIFPKQSQKLERKIMEIHNNELRGQSPAMAEFNLLLKAHTLETYGVDPHPCKDSRGATAFLGFTAAGFVVFQGNKRIHLRKWYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQRDPPEVHRVNITQSRSFHSLNKQLIINMEPLQPLLPSPTEQEEEVPMGEGTPLPKMDVSESLISSSPVKGAQCADPPDEEEDRLKEDPLTISELAYNPSASLLPTPVDDDEINMLFDCPSRLELEREDTDSFEELEADENAFLIAEEEELKEARQALSWSYSILTGRIWVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMP" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A2Y4/", "id": "A2A2Y4", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BHD4-1", "protein_name": "FERM domain-containing protein 3", "sequence": { "length": 595, "sequence": "MFASCHCAPRGRRTMKMIHFRSSSIKSLNQEMKCTIRLLDDSEVSCHIQRETKGQFLIEYICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKSHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAEFGDYYPDEHPENYISEFEIFPKQSQKLERKIMEIHNNELRGQSPAIAEFNLLLKAHTLETYGVDPHPCKDSRGATAFLGFTAAGFVVFQGNKRIHLRKWSDVCKLKFEGKTFYVIGSQKEKNAVLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQRDPPEVHRVNITQSRSFHSLNKQLIINMEPLQPLLPSPTEQEEEVPVGEGVPLPKMDVSEPLIASSPVKGAQCADPPDEEEDRVKEDPLTISELAYNPSASLLPTPVDDDEINMLFDCPSRLELEREDTDSFEELEADENAFLIAEEEELKEARQALSWSYSILTGHIWVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVNIVLYMLGCS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A2Y4/", "id": "A2A2Y4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/16012", "id": "16012", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777598.3", "ac": "NP_777598.3", "name": "FERM domain-containing protein 3 isoform 1", "summary": "The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "cytoskeletal protein binding", "id": "GO:0008092" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "cytoskeleton", "id": "GO:0005856" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "actomyosin structure organization", "id": "GO:0031032" } ], "total": 1, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 92, "annotation": "n_glycosylation_sequon", "start_pos": 90 }, { "end_pos": 361, "annotation": "n_glycosylation_sequon", "start_pos": 359 }, { "end_pos": 409, "annotation": "n_glycosylation_sequon", "start_pos": 407 } ], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:257019", "id": "hsa:257019", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24125", "id": "24125", "database": "HGNC" }, { "url": "https://omabrowser.org/oma/group/EVHRTNI/", "id": "EVHRTNI", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14473", "id": "cd14473", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "id": "IPR029071", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014352", "id": "IPR014352", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000299", "id": "IPR000299", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000798", "id": "IPR000798", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014847", "id": "IPR014847", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018979", "id": "IPR018979", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018980", "id": "IPR018980", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019747", "id": "IPR019747", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019748", "id": "IPR019748", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019749", "id": "IPR019749", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035963", "id": "IPR035963", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD3", "id": "FRMD3", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/257019", "id": "257019", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF00373", "id": "PF00373", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF08736", "id": "PF08736", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09379", "id": "PF09379", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09380", "id": "PF09380", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2A2Y4", "id": "PR_A2A2Y4", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A2A2Y4", "id": "NX_A2A2Y4", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2A2Y4*", "id": "A2A2Y4", "database": "IntAct" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ] } ], "uniprot_ac": "A2A2Y4", "disease": [], "mass": { "monoisotopic_mass": 68772.0, "chemical_mass": 68772.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24125", "name": "FRMD3", "locus": { "end_pos": 83242990, "start_pos": 83538546, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000172159", "id": "ENSG00000172159", "database": "Ensembl Gene" } ] } } ] }