{
    "uniprot_canonical_ac": "A0PK00-1", 
    "sequence": {
        "header": "sp|A0PK00-1|T120B_HUMAN Isoform 1 of Transmembrane protein 120B  OS=Homo sapiens OX=9606 GN=TMEM120B PE=1 SV=1 CANONICAL=A0PK00-1", 
        "length": 339, 
        "sequence": "MSGQLERCEREWHELEGEFQELQETHRIYKQKLEELAALQTLCSSSISKQKKHLKDLKLTLQRCKRHASREEAELVQQMAANIKERQDVFFDMEAYLPKKNGLYLNLVLGNVNVTLLSNQAKFAYKDEYEKFKLYLTIILLLGAVACRFVLHYRVTDEVFNFLLVWYYCTLTIRESILISNGSRIKGWWVSHHYVSTFLSGVMLTWPNGPIYQKFRNQFLAFSIFQSCVQFLQYYYQRGCLYRLRALGERNHLDLTVEGFQSWMWRGLTFLLPFLFCGHFWQLYNAVTLFELSSHEECREWQVFVLAFTFLILFLGNFLTTLKVVHAKLQKNRGKTKQP"
    }, 
    "uniprot_id": "T120B_HUMAN", 
    "enzyme_annotation": [], 
    "synonyms": {
        "protein": {
            "refseq": [
                "transmembrane protein 120B"
            ], 
            "uniprotkb": [
                "Transmembrane protein 120B"
            ]
        }, 
        "gene": {
            "refseq": [
                "TMEM120B"
            ], 
            "uniprotkb": [
                "TMEM120B"
            ]
        }
    }, 
    "keywords": [], 
    "species": [
        {
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0PK00", 
                    "id": "A0PK00", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "recommendedname": {
        "full": "Transmembrane protein 120B."
    }, 
    "publication": [
        {
            "title": "A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/24026423", 
            "journal": "Human genetics", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
                    "id": "NP_001074294.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ", 
            "date": "2014", 
            "pmid": "24026423"
        }, 
        {
            "title": "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/19240061", 
            "journal": "Gut", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
                    "id": "NP_001074294.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C", 
            "date": "2009", 
            "pmid": "19240061"
        }
    ], 
    "glycosylation": [], 
    "mutation": [
        {
            "start_pos": 92, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "D", 
            "disease": {
                "doid": "1612", 
                "url": "http://disease-ontology.org/term/DOID:1612", 
                "icd10": "", 
                "name": "Breast cancer"
            }, 
            "sequence_mut": "N", 
            "subjects_tested": "50", 
            "end_pos": 92, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 16, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "E", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "*", 
            "subjects_tested": "50", 
            "end_pos": 16, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 301, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "W", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "C", 
            "subjects_tested": "50", 
            "end_pos": 301, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 158, 
            "subjects_positive": "2", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.4", 
            "annotation": "Filters passed (1/5): num. of cancers (3).", 
            "sequence_org": "E", 
            "disease": {
                "doid": "363", 
                "url": "http://disease-ontology.org/term/DOID:363", 
                "icd10": "", 
                "name": "Uterine cancer"
            }, 
            "sequence_mut": "K", 
            "subjects_tested": "558", 
            "end_pos": 158, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 158, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.6", 
            "annotation": "Filters passed (1/5): num. of cancers (3).", 
            "sequence_org": "E", 
            "disease": {
                "doid": "9256", 
                "url": "http://disease-ontology.org/term/DOID:9256", 
                "icd10": "", 
                "name": "Colorectal cancer"
            }, 
            "sequence_mut": "K", 
            "subjects_tested": "162", 
            "end_pos": 158, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 158, 
            "subjects_positive": "2", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.3", 
            "annotation": "Filters passed (1/5): num. of cancers (3).", 
            "sequence_org": "E", 
            "disease": {
                "doid": "1319", 
                "url": "http://disease-ontology.org/term/DOID:1319", 
                "icd10": "", 
                "name": "Brain cancer"
            }, 
            "sequence_mut": "K", 
            "subjects_tested": "678", 
            "end_pos": 158, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 41, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "T", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "A", 
            "subjects_tested": "50", 
            "end_pos": 41, 
            "type": "Point mutation"
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A0PK00#A0PK00-1", 
            "isoform_ac": "A0PK00-1", 
            "locus": {
                "end_pos": 121712896, 
                "start_pos": 121775719, 
                "chromosome": "12", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000449592", 
                        "id": "ENST00000449592", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000404991", 
                        "id": "ENSP00000404991", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A0PK00-1|T120B_HUMAN Isoform 1 of Transmembrane protein 120B  OS=Homo sapiens OX=9606 GN=TMEM120B PE=1 SV=1 CANONICAL=A0PK00-1", 
                "length": 339, 
                "sequence": "MSGQLERCEREWHELEGEFQELQETHRIYKQKLEELAALQTLCSSSISKQKKHLKDLKLTLQRCKRHASREEAELVQQMAANIKERQDVFFDMEAYLPKKNGLYLNLVLGNVNVTLLSNQAKFAYKDEYEKFKLYLTIILLLGAVACRFVLHYRVTDEVFNFLLVWYYCTLTIRESILISNGSRIKGWWVSHHYVSTFLSGVMLTWPNGPIYQKFRNQFLAFSIFQSCVQFLQYYYQRGCLYRLRALGERNHLDLTVEGFQSWMWRGLTFLLPFLFCGHFWQLYNAVTLFELSSHEECREWQVFVLAFTFLILFLGNFLTTLKVVHAKLQKNRGKTKQP"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0PK00#H0YG77-1", 
            "isoform_ac": "H0YG77-1", 
            "locus": {
                "end_pos": 121743623, 
                "start_pos": 121775093, 
                "chromosome": "12", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000541467", 
                        "id": "ENST00000541467", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000442105", 
                        "id": "ENSP00000442105", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|H0YG77-1|T120B_HUMAN Computationally mapped isoform of Transmembrane protein 120B  OS=Homo sapiens OX=9606 GN=TMEM120B PE=1 SV=1 CANONICAL=A0PK00-1", 
                "length": 247, 
                "sequence": "LQETHRIYKQKLEELAALQTLCSSSISKQKKHLKDLKLTLQRCKRHASREEAELVQQMAANIKERQDVFFDMEAYLPKKNGLYLNLVLGNVNVTLLSNQAKFAYKDEYEKFKLYLTIILLLGAVACRFVLHYRVTDEVFNFLLVWYYCTLTIRESILISNGSRIKGWWVSHHYVSTFLSGVMLTWPNGPIYQKFRNQFLAFSIFQSCVQFLQYYYQRGCLYRLRALGERNHLDLTVVLAALQCRHAV"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0PK00#F5H465-1", 
            "isoform_ac": "F5H465-1", 
            "locus": {
                "end_pos": 121775115, 
                "start_pos": 121775868, 
                "chromosome": "12", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000540377", 
                        "id": "ENST00000540377", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000446159", 
                        "id": "ENSP00000446159", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|F5H465-1|T120B_HUMAN Computationally mapped isoform of Transmembrane protein 120B  OS=Homo sapiens OX=9606 GN=TMEM120B PE=1 SV=1 CANONICAL=A0PK00-1", 
                "length": 92, 
                "sequence": "MQRMAGVRTGVHLPHPLPRQLPDHAQSRACQAPEEQRQDKAAVSLGLLCPRPGLQTAGGSRAPSQQPSQARGIAGRGPRPWSPSGPQWSRGM"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:144404", 
            "resource": "KEGG Pathway", 
            "id": "hsa:144404", 
            "name": ""
        }
    ], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A0PK00#function", 
            "annotation": "Necessary for efficient adipogenesis.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0PK00#function", 
                    "id": "A0PK00", 
                    "database": "UniProtKB"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
            "annotation": "Observational study of gene-disease association. (HuGE Navigator)", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
                    "id": "NP_001074294.2", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "Q3TA38-1", 
            "protein_name": "Transmembrane protein 120B.", 
            "sequence": {
                "length": 339, 
                "sequence": "MSGQLERCEREWHELEGEFQELQETHRIYKQKLEELTSLQTLCSTSISKQKRHLKDLKHTLQRYKRHSSHEEAALIQQMTANIKERQNVFFDMEAYLPKKNGLYLNLVLGNVSVTLLSNQAKFAYKDEYEKFKLYLTIILLLGAVACRFVLHYRVTDEVFNFLLVWYYCTLTIRESILISNGSRIKGWWVSHHYVSTFLSGVMLTWPNGLIYQKFRNQFLAFSIFQSCVQFLQYYYQRGCLYRLRALGERNHLDLTVEGFQSWMWRGLTFLLPFLFCGHFWQLYNAVTLFELSTHEECKEWQVFVLALTFLILFLGNFLTTLKVVHAKLHKNRNKTKQP"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/62404", 
                    "id": "62404", 
                    "database": "MGI"
                }
            ], 
            "organism": "Mus musculus", 
            "tax_id": 10090
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
        "ac": "NP_001074294.2", 
        "name": "transmembrane protein 120B.", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0PK00", 
                                "id": "A0PK00", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "integral component of membrane", 
                        "id": "GO:0016021"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0PK00", 
                                "id": "A0PK00", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nuclear inner membrane", 
                        "id": "GO:0005637"
                    }
                ], 
                "total": 2, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051291", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0PK00", 
                                "id": "A0PK00", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "protein heterooligomerization", 
                        "id": "GO:0051291"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0PK00", 
                                "id": "A0PK00", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "fat cell differentiation", 
                        "id": "GO:0045444"
                    }
                ], 
                "total": 2, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 115, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 113
        }, 
        {
            "end_pos": 183, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 181
        }
    ], 
    "crossref": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074294.2", 
            "id": "NP_001074294.2", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=32008", 
            "id": "32008", 
            "database": "HGNC"
        }, 
        {
            "url": "https://pharos.nih.gov/targets/A0PK00", 
            "id": "A0PK00", 
            "database": "PHAROS"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A0PK00", 
            "id": "NX_A0PK00", 
            "database": "neXtProt"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM120B", 
            "id": "TMEM120B", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:144404", 
            "id": "hsa:144404", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188735", 
            "id": "ENSG00000188735", 
            "database": "Bgee"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/SKQRKCL/", 
            "id": "SKQRKCL", 
            "database": "OMA"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR012926", 
            "id": "IPR012926", 
            "database": "InterPro"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF07851", 
            "id": "PF07851", 
            "database": "Pfam"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21433", 
            "id": "PTHR21433", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0PK00", 
            "id": "PR_A0PK00", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PK00*", 
            "id": "A0PK00", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/144404", 
            "id": "144404", 
            "database": "GeneID"
        }
    ], 
    "expression_disease": [
        {
            "trend": "Up", 
            "disease": {
                "doid": "11054", 
                "url": "http://disease-ontology.org/term/DOID:11054", 
                "icd10": "", 
                "name": "DOID:11054 / Urinary bladder cancer [UBC]"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Down", 
            "disease": {
                "doid": "3907", 
                "url": "http://disease-ontology.org/term/DOID:3907", 
                "icd10": "", 
                "name": "DOID:3907 / Lung squamous cell carcinoma"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Down", 
            "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/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Down", 
            "disease": {
                "doid": "5041", 
                "url": "http://disease-ontology.org/term/DOID:5041", 
                "icd10": "", 
                "name": "DOID:5041 / Esophageal cancer [EC]"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK00", 
                    "id": "A0PK00", 
                    "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/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "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/A0PK00", 
                    "id": "A0PK00", 
                    "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/A0PK00", 
                    "id": "A0PK00", 
                    "database": "BioXpress"
                }
            ]
        }
    ], 
    "uniprot_ac": "A0PK00", 
    "disease": [], 
    "mass": {
        "monoisotopic_mass": 40246.0, 
        "chemical_mass": 40246.0
    }, 
    "expression_tissue": [
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0009853", 
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    ]
}
