{ "uniprot_canonical_ac": "P11049-1", "uniprot_ac": "P11049", "uniprot_id": "CD37_HUMAN", "mass": { "chemical_mass": 31703.0, "monoisotopic_mass": 31703.0 }, "refseq": { "ac": "NP_001035120", "name": "leukocyte antigen CD37 isoform B", "summary": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" }, "gene_names": [ { "name": "CD37", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11049", "id": "P11049" }, { "name": "CD37", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120", "id": "NP_001035120" }, { "name": "GP52-40; TSPAN26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120", "id": "NP_001035120" }, { "name": "TSPAN26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11049", "id": "P11049" } ], "protein_names": [ { "name": "Leukocyte antigen CD37", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11049" }, { "name": "Tetraspanin-26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11049" }, { "name": "Tspan-26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11049" }, { "name": "cell differentiation antigen 37; leukocyte surface antigen CD37; tetraspanin-26; tspan-26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120", "id": "NP_001035120" }, { "name": "leukocyte antigen CD37 isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120", "id": "NP_001035120" } ], "function": [ { "annotation": "CD37 expression in follicular lymphoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" }, { "database": "PubMed", "id": "35171311", "url": "https://glygen.org/publication/PubMed/35171311" } ] }, { "annotation": "CD37 high expression as a potential biomarker and association with poor outcome in acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" }, { "database": "PubMed", "id": "32400873", "url": "https://glygen.org/publication/PubMed/32400873" } ] }, { "annotation": "From a cohort of 137 primary diffuse large B-cell lymphoma (DLBCL) samples. CD37 mutations were exclusively identified in immune-privileged site-associated DLBCL (IP-DLBCL) cases but absent in non-IP-DLBCL cases. Modeling and functional analysis of CD37 missense mutations revealed loss of function by impaired CD37 protein expression at the plasma membrane of human lymphoma B cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" }, { "database": "PubMed", "id": "31366619", "url": "https://glygen.org/publication/PubMed/31366619" } ] }, { "annotation": "The anti-CD37 antibody BI 836826 in relapsed/refractory chronic lymphocytic leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" }, { "database": "PubMed", "id": "31089249", "url": "https://glygen.org/publication/PubMed/31089249" } ] }, { "annotation": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs767573534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767573534" }, { "id": "rs767573534", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767573534" }, { "id": "rs767573534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767573534" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 172, "end_pos": 172, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGL).", "chr_id": "19", "chr_pos": "49338767", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs906556668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs906556668" }, { "id": "rs906556668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs906556668#frequency_tab" }, { "id": "rs906556668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs906556668" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 185, "end_pos": 185, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLP).", "chr_id": "19", "chr_pos": "49338805", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777728368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777728368" }, { "id": "rs777728368", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777728368" }, { "id": "rs777728368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777728368" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->DDS).", "chr_id": "19", "chr_pos": "49338814", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749323419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749323419" }, { "id": "rs749323419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749323419" }, { "id": "rs749323419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749323419" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->KDS).", "chr_id": "19", "chr_pos": "49338816", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250597358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250597358" }, { "id": "rs1250597358", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1250597358#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 189, "end_pos": 189, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "19", "chr_pos": "49338817", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770912196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770912196" }, { "id": "rs770912196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770912196" }, { "id": "rs770912196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770912196" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 190, "end_pos": 190, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDC).", "chr_id": "19", "chr_pos": "49338821", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11049", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11049" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 190, "end_pos": 190, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDS->NDF).", "chr_id": "19", "chr_pos": "49338821", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S190", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1444040964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444040964" }, { "id": "rs1444040964", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1444040964#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 21, "end_pos": 21, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLF->NLS).", "chr_id": "19", "chr_pos": "49335602", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470542072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470542072" }, { "id": "rs1470542072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470542072#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 243, "end_pos": 243, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "19", "chr_pos": "49339373", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755365393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755365393" }, { "id": "rs755365393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755365393" }, { "id": "rs755365393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755365393#frequency_tab" }, { "id": "rs755365393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755365393" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 39, "end_pos": 39, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "19", "chr_pos": "49335759", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11049", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11049" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "19", "chr_pos": "49335764", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K40", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"url": "https://www.ensembl.org/id/ENSP00000470260.1" } ] } }, { "isoform_ac": "M0QZP6-1", "url": "", "sequence": { "sequence": "XAQLERSLRDVVEKTIQKYGTNPEETAAEESWDYVQFQLRCCGWHYPQDWFQVLILRGNGSEAHRVPCSCYNLSATNDSTILDKVILPQLSRLGHLARSRHSADICAVPAESHIYREGCAQGLQKWLHNNLISIVGICLGVGLLEMTVMVLSVQLQRRALRRKCEPHVPGAGDSSPGPSLIADGGGGHSGSLWGGWGMAGACPNWGDKAPQGKLPMALGLWPLWVQDEDQPDTGSAGAELEEAQLEAEAEGEDR", "length": 254, "header": "tr|M0QZP6-1|CD37_HUMAN Computationally mapped isoform of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=1 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49339986, "end_pos": 49337215, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594743.1", "url": "https://www.ensembl.org/id/ENST00000594743.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470683.1", "url": "https://www.ensembl.org/id/ENSP00000470683.1" } ] } }, { "isoform_ac": "M0R083-1", "url": "", "sequence": { "sequence": "MGIALLGCVGALKELRCLLGLYFGML", "length": 26, "header": "tr|M0R083-1|CD37_HUMAN Computationally mapped isoform of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=8 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49337161, "end_pos": 49336971, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000597602.1", "url": "https://www.ensembl.org/id/ENST00000597602.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000471078.1", "url": "https://www.ensembl.org/id/ENSP00000471078.1" } ] } }, { "isoform_ac": "M0R1J1-1", "url": "", "sequence": { "sequence": "MSAQESCLSLIKYFLFVFNLFFFVLGSLIFCFGIWILIDKTSFVSFAWPSCLCRSGPKSWPSQESSPWASPSWVVWGPSRSSAASWACILGCCCSCLPHRSPWESSSPLSGPSWSEACGTS", "length": 121, "header": "tr|M0R1J1-1|CD37_HUMAN Computationally mapped isoform of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=1 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49337949, "end_pos": 49335541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000595725.5", "url": "https://www.ensembl.org/id/ENST00000595725.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000471902.1", "url": "https://www.ensembl.org/id/ENSP00000471902.1" } ] } }, { "isoform_ac": "P11049-1", "url": "", "sequence": { "sequence": "MSAQESCLSLIKYFLFVFNLFFFVLGSLIFCFGIWILIDKTSFVSFVGLAFVPLQIWSKVLAISGIFTMGIALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRAQLERSLRDVVEKTIQKYGTNPEETAAEESWDYVQFQLRCCGWHYPQDWFQVLILRGNGSEAHRVPCSCYNLSATNDSTILDKVILPQLSRLGHLARSRHSADICAVPAESHIYREGCAQGLQKWLHNNLISIVGICLGVGLLELGFMTLSIFLCRNLDHVYNRLARYR", "length": 281, "header": "sp|P11049-1|CD37_HUMAN Isoform 1 of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=2 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49340325, "end_pos": 49335541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323906.9", "url": "https://www.ensembl.org/id/ENST00000323906.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000325708.3", "url": "https://www.ensembl.org/id/ENSP00000325708.3" } ] } }, { "isoform_ac": "P11049-2", "url": "", "sequence": { "sequence": "MGIALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRAQLERSLRDVVEKTIQKYGTNPEETAAEESWDYVQFQLRCCGWHYPQDWFQVLILRGNGSEAHRVPCSCYNLSATNDSTILDKVILPQLSRLGHLARSRHSADICAVPAESHIYREGCAQGLQKWLHNNLISIVGICLGVGLLELGFMTLSIFLCRNLDHVYNRLARYR", "length": 213, "header": "sp|P11049-2|CD37_HUMAN Isoform 2 of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=2 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49340325, "end_pos": 49336971, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426897.6", "url": "https://www.ensembl.org/id/ENST00000426897.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000413151.1", "url": "https://www.ensembl.org/id/ENSP00000413151.1" } ] } }, { "isoform_ac": "P11049-3", "url": "", "sequence": { "sequence": "MGIALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRAQLERSLRDVVEKTIQKYGTNPEETAAEESWDYVQFQLRCCGWHYPQDWFQVLILRGNGSEAHRVPCSCYNLSATNDSTILDKVILPQLSRLGHLARSRHSADICAVPAESHIYREGCAQGLQKWLHNNLISIVGICLGVGLLEVIWPRPHPRSALNP", "length": 202, "header": "sp|P11049-3|CD37_HUMAN Isoform 3 of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=2 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49339455, "end_pos": 49336971, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598095.5", "url": "https://www.ensembl.org/id/ENST00000598095.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470394.1", "url": "https://www.ensembl.org/id/ENSP00000470394.1" } ] } }, { "isoform_ac": "Q96LM7-1", "url": "", "sequence": { "sequence": "MSAQESCLSLIKYFLFVFNLFFFVLGSLIFCFGIWILIDKTSFVSFVGLAFVPLQIWSKVLAISGIFTMGIALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRAQKDTPTWTKGDRHKQLQRETHGKKREQEKEIDALKEETETYEP", "length": 156, "header": "tr|Q96LM7-1|CD37_HUMAN Computationally mapped isoform of Leukocyte antigen CD37 OS=Homo sapiens OX=9606 GN=CD37 PE=1 SV=1 CANONICAL=P11049-1" }, "locus": { "chromosome": "19", "start_pos": 49337751, "end_pos": 49335541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000391859.6", "url": "https://www.ensembl.org/id/ENST00000391859.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375732.2", "url": "https://www.ensembl.org/id/ENSP00000375732.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 170, "start_aa": "Asn", "end_pos": 170, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn170", "evidence": [ { "id": "P11049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11049#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "P11049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11049#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P11049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11049#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "SCIMP, a transmembrane adapter protein involved in major histocompatibility complex class II signaling.", "journal": "Mol. Cell. Biol.", "date": "2011", "authors": "Draber P, Vonkova I, Stepanek O, Hrdinka M, Kucova M, Skopcova T, Otahal P, Angelisova P, Horejsi V, Yeung M, Weiss A, Brdicka T", "evidence": [ { "database": "UniProtKB", "id": "P11049", "url": "https://www.uniprot.org/uniprot/P11049" } ], "reference": [ { "type": "PubMed", "id": "21930792", "url": "https://glygen.org/publication/PubMed/21930792" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "The primary structure of the human leukocyte antigen CD37, a species homologue of the rat MRC OX-44 antigen.", "journal": "J. Exp. Med.", "date": "1989", "authors": "Classon B J, Williams A F, Willis A C, Seed B, Stamenkovic I", "evidence": [ { "database": "UniProtKB", "id": "P11049", "url": "https://www.uniprot.org/uniprot/P11049" } ], "reference": [ { "type": "PubMed", "id": "2466944", "url": "https://glygen.org/publication/PubMed/2466944" } ] }, { "title": "Phase 1 first-in-human trial of the anti-CD37 antibody BI 836826 in relapsed/refractory chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2019", "authors": "Stilgenbauer S, Aurran Schleinitz T, Eichhorst B, Lang F, Offner F, Rossi JF, Schroyens W, Van Den Neste E, Ysebaert L, von Wangenheim U, Ursula Kress U, Blum P, Zenz T", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" } ], "reference": [ { "type": "PubMed", "id": "31089249", "url": "https://glygen.org/publication/PubMed/31089249" } ] }, { "title": "High frequency of inactivating tetraspanin C D37 mutations in diffuse large B-cell lymphoma at immune-privileged sites.", "journal": "Blood", "date": "2019", "authors": "Elfrink S, de Winde CM, van den Brand M, Berendsen M, Roemer MGM, Arnold F, Janssen L, van der Schaaf A, Jansen E, Groenen PJTA, Eijkelenboom A, Stevens W, Hess CJ, van Krieken JH, Vermaat JSP, Cleven AHG, de Groen RAL, Neviani V, de Jong D, van Deventer S, Scheijen B, van Spriel AB", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" } ], "reference": [ { "type": "PubMed", "id": "31366619", "url": "https://glygen.org/publication/PubMed/31366619" } ] }, { "title": "CD37 high expression as a potential biomarker and association with poor outcome in acute myeloid leukemia.", "journal": "Bioscience reports", "date": "2020", "authors": "Zhang Q, Han Q, Zi J, Song C, Ge Z", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" } ], "reference": [ { "type": "PubMed", "id": "32400873", "url": "https://glygen.org/publication/PubMed/32400873" } ] }, { "title": "CD37 expression in follicular lymphoma.", "journal": "Annals of hematology", "date": "2022", "authors": "Yoshimura T, Miyoshi H, Shimono J, Nakashima K, Takeuchi M, Yanagida E, Yamada K, Shimasaki Y, Moritsubo M, Furuta T, Kohno K, Ohshima K", "evidence": [ { "database": "RefSeq", "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120" } ], "reference": [ { "type": "PubMed", "id": "35171311", "url": "https://glygen.org/publication/PubMed/35171311" } ] } ], "pathway": [ { "id": "hsa:951", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:951", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P31053-1", "protein_name": "Leukocyte antigen CD37", "gene_name": "Cd37", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSAQESCLSLIKYFLFVFNLFFFVLGGLIFCFGTWILIDKTSFVSFVGLSFVPLQTWSKVLSVSGVLTMALALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRVRLERRVQELVLRTIQSYRTNPDETAAEESWDYAQFQLRCCGWQSPRDWNKAQMLKANGSEELFVPCSCYNSTATNDSSGFDKLFLSQLSRLGPRAKLRQTADICALPAKAHIYREGCARSLQKWLHNNIISIVGICLGVGLLELGFMTLSIFLCRNLDHVYDRLARYR", "length": 281 }, "evidence": [ { "id": "45932523", "url": "http://www.informatics.jax.org/homology/45932523", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61470-1", "protein_name": "Leukocyte antigen CD37", "gene_name": "Cd37", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSAQESCLSLIKYFLFVFNLFFFVLGGLIFCFGTWILIDKTSFVSFVGLSFVPLQTWSKVLAVSGVLTMALALLGCVGALKELRCLLGLYFGMLLLLFATQITLGILISTQRVRLERRVQELVLRTIQSYRTNPDETAAEESWDYAQFQLRCCGWQSPRDWNKAQMLKANESEEPFVPCSCYNSTATNDSTVFDKLFFSQLSRLGPRAKLRQTADICALPAKAHIYREGCAQSLQKWLHNNIISIVGICLGVGLLELGFMTLSIFLCRNLDHVYDRLARYR", "length": 281 }, "evidence": [ { "id": "45932523", "url": "http://www.informatics.jax.org/homology/45932523", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11049", "url": "https://www.uniprot.org/uniprot/P11049" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P11049", "url": "https://www.uniprot.org/uniprot/P11049" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P11049", "url": "https://www.uniprot.org/uniprot/P11049" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 170, "end_pos": 172, "annotation": "n_glycosylation_sequon" }, { "start_pos": 183, "end_pos": 185, "annotation": "n_glycosylation_sequon" }, { "start_pos": 188, "end_pos": 190, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 170, 183, 188 ], "o_linked_sites": [], "snv_sites": [ 21, 39, 40, 172, 185, 188, 189, 190, 243 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 170, "end_pos": 172 }, { "start_pos": 183, "end_pos": 185 }, { "start_pos": 188, "end_pos": 190 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }