{ "uniprot_canonical_ac": "P02812-1", "uniprot_ac": "P02812", "uniprot_id": "PRB2_HUMAN", "mass": { "chemical_mass": 40809.0, "monoisotopic_mass": 40809.0 }, "refseq": { "ac": "NP_006239", "name": "basic salivary proline-rich protein 2 preproprotein", "summary": "This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239" }, "gene_names": [ { "name": "PRB2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02812", "id": "P02812" }, { "name": "PRB2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239", "id": "NP_006239" }, { "name": "cP7; IB-9; PRPPRB1; Ps", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239", "id": "NP_006239" } ], "protein_names": [ { "name": "Basic salivary proline-rich protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02812" }, { "name": "Basic peptide P-F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02812" }, { "name": "Con1 glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02812" }, { "name": "IB-9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02812" }, { "name": "Salivary proline-rich protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02812" }, { "name": "basic salivary proline-rich protein 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239", "id": "NP_006239" }, { "name": "proline-rich protein BstNI, subfamily-2 (parotid size variant); salivary proline-rich protein 2; basic salivary proline-rich protein 2; Basic proline-rich peptide P-E; con1 glycoprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239", "id": "NP_006239" } ], "function": [ { "annotation": "PRb2/p130 cytoplasmic delocalization can lead to cell cycle deregulation", "evidence": [ { "database": "RefSeq", "id": "NP_006239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239" }, { "database": "PubMed", "id": "25205458", "url": "https://glygen.org/publication/PubMed/25205458" } ] }, { "annotation": "This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023].", "evidence": [ { "database": "RefSeq", "id": "NP_006239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs759529153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759529153" }, { "id": "rs759529153", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759529153" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 232, "end_pos": 232, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKC); o-glyco-site-loss (S->C).", "chr_id": "12", "chr_pos": "11393383", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592225729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592225729" }, { "id": "rs1592225729", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592225729" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 232, "end_pos": 232, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKP); o-glyco-site-loss (S->P).", "chr_id": "12", "chr_pos": "11393384", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769307717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769307717" }, { "id": "rs769307717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769307717" }, { "id": "rs769307717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769307717#frequency_tab" }, { "id": "rs769307717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769307717" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "12", "chr_pos": "11393693", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777403261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777403261" }, { "id": "rs777403261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777403261" }, { "id": "rs777403261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777403261" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 150, "end_pos": 150, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "12", "chr_pos": "11393630", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746216602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216602" }, { "id": "rs746216602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216602" }, { "id": "rs746216602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746216602#frequency_tab" }, { "id": "rs746216602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746216602" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->KKS).", "chr_id": "12", "chr_pos": "11393574", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1338600510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338600510" }, { "id": "rs1338600510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338600510" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "12", "chr_pos": "11393575", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301271728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301271728" }, { "id": "rs1301271728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1301271728#frequency_tab" }, { "id": "rs1301271728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301271728" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKC).", "chr_id": "12", "chr_pos": "11393569", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1387459920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387459920" }, { "id": "rs1387459920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387459920" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKP).", "chr_id": "12", "chr_pos": "11393570", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301271728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301271728" }, { "id": "rs1301271728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1301271728#frequency_tab" }, { "id": "rs1301271728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301271728" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKY).", "chr_id": "12", "chr_pos": "11393569", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs562017430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562017430" }, { "id": "rs562017430", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562017430" }, { "id": "rs562017430", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562017430" }, { "id": "rs562017430", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562017430#frequency_tab" }, { "id": "rs562017430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562017430" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 191, "end_pos": 191, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "12", "chr_pos": "11393507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs562017430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562017430" }, { "id": "rs562017430", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562017430" }, { "id": "rs562017430", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562017430" }, { "id": "rs562017430", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562017430#frequency_tab" }, { "id": "rs562017430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562017430" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 191, "end_pos": 191, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "12", "chr_pos": "11393507", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484761047", "database": 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"database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200759746#frequency_tab" }, { "id": "rs200759746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200759746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 212, "end_pos": 212, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "12", "chr_pos": "11393444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001797", "site_lbl": "P212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200759746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200759746" }, { "id": "rs200759746", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200759746" }, { "id": "rs200759746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200759746" }, { "id": "rs200759746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200759746#frequency_tab" }, { "id": "rs200759746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200759746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 212, "end_pos": 212, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "12", "chr_pos": "11393444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001797", "site_lbl": "P212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778773434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778773434" }, { "id": "rs778773434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778773434" }, { "id": "rs778773434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778773434#frequency_tab" }, { "id": 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"n-glyco-sequon-loss" ], "start_pos": 230, "end_pos": 230, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->DKS).", "chr_id": "12", "chr_pos": "11393390", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380663850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380663850" }, { "id": "rs1380663850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1380663850#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 230, "end_pos": 230, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->KKS).", "chr_id": "12", "chr_pos": "11393388", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775513569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775513569" }, { "id": "rs775513569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775513569" }, { "id": "rs775513569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775513569" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 230, "end_pos": 230, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "12", "chr_pos": "11393389", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs10845349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10845349" }, { "id": "rs10845349", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs10845349" }, { 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02812", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02812" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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"Protein" ] }, { "id": "H3BR58", "url": "https://www.uniprot.org/uniprot/H3BR58", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR58-1", "url": "https://www.uniprot.org/uniprot/H3BR58-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02812-1", "url": "https://www.uniprot.org/uniprot/P02812-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGAPPQGGNKPQGPPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSQSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 416, "header": "sp|P02812-1|PRB2_HUMAN Isoform 1 of Basic salivary proline-rich protein 2 OS=Homo sapiens OX=9606 GN=PRB2 PE=1 SV=4 CANONICAL=P02812-1" }, "isoforms": [ { "isoform_ac": "H3BR58-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNE", "length": 21, "header": "tr|H3BR58-1|H3BR58_HUMAN Computationally mapped isoform of Proline rich protein BstNI subfamily 2 OS=Homo sapiens OX=9606 GN=PRB2 PE=4 SV=1 CANONICAL=P02812-1" }, "locus": { "chromosome": "12", "start_pos": 11395529, "end_pos": 11395467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565533.1", "url": "https://www.ensembl.org/id/ENST00000565533.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456086.1", "url": "https://www.ensembl.org/id/ENSP00000456086.1" } ] } }, { "isoform_ac": "P02812-1", "url": "", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGAPPQGGNKPQGPPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDNKSQSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 416, "header": "sp|P02812-1|PRB2_HUMAN Isoform 1 of Basic salivary proline-rich protein 2 OS=Homo sapiens OX=9606 GN=PRB2 PE=1 SV=4 CANONICAL=P02812-1" }, "locus": { "chromosome": "12", "start_pos": 11395529, "end_pos": 11392830, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389362.6", "url": "https://www.ensembl.org/id/ENST00000389362.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000374013.4", "url": "https://www.ensembl.org/id/ENSP00000374013.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "P02812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02812#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 230, "start_aa": "Asn", "end_pos": 230, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn230", "evidence": [ { "id": "P02812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02812#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (Hex) serine Other", "start_pos": 232, "start_aa": "Ser", "end_pos": 232, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser232", "evidence": [ { "id": "P02812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02812#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "P02812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02812#ptm_processing" }, { "id": "20879038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20879038" } ] } ], "phosphorylation": [ { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser108" }, { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser110" }, { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser113" }, { "start_pos": 24, "end_pos": 24, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "PubMed", "id": "3521730", "url": "https://glygen.org/publication/PubMed/3521730" }, { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" } ], "site_lbl": "Ser24" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" }, { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" } ], "site_lbl": "Ser52" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of Lys-Pro-Gln as a novel cleavage site specificity of saliva-associated proteases.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Helmerhorst EJ, Sun X, Salih E, Oppenheim FG", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] }, { "title": "Basic proline-rich proteins from human parotid saliva: relationships of the covalent structures of ten proteins from a single individual.", "journal": "Biochemistry", "date": "1991", "authors": "Kauffman DL, Bennick A, Blum M, Keller PJ", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "1849422", "url": "https://glygen.org/publication/PubMed/1849422" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Finding new posttranslational modifications in salivary proline-rich proteins.", "journal": "Proteomics", "date": "2010", "authors": "Vitorino R, Alves R, Barros A, Caseiro A, Ferreira R, Lobo MC, Bastos A, Duarte J, Carvalho D, Santos LL, Amado FL", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812#ptm_processing" }, { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" } ], "reference": [ { "type": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "title": "pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer.", "journal": "Journal of cellular physiology", "date": "2015", "authors": "Cito L, Indovina P, Forte IM, Pentimalli F, Di Marzo D, Somma P, Barone D, Penon A, Penon D, Ceccherini E, Micheli P, Saragoni L, Di Domenico M, Feola A, Roviello F, Mattioli E, Giordano GG, Giordano A", "evidence": [ { "database": "RefSeq", "id": "NP_006239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239" } ], "reference": [ { "type": "PubMed", "id": "25205458", "url": "https://glygen.org/publication/PubMed/25205458" } ] }, { "title": "Length polymorphisms in human proline-rich protein genes generated by intragenic unequal crossing over.", "journal": "Genetics", "date": "1988", "authors": "Lyons KM, Stein JH, Smithies O", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "2851479", "url": "https://glygen.org/publication/PubMed/2851479" } ] }, { "title": "Differential RNA splicing and post-translational cleavages in the human salivary proline-rich protein gene system.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Maeda N, Kim HS, Azen EA, Smithies O", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "2993301", "url": "https://glygen.org/publication/PubMed/2993301" } ] }, { "title": "Basic proline-rich proteins from human parotid saliva: complete covalent structures of proteins IB-1 and IB-6.", "journal": "Biochemistry", "date": "1986", "authors": "Kauffman D, Hofmann T, Bennick A, Keller P", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "iPTMnet", "id": "P02812", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02812" } ], "reference": [ { "type": "PubMed", "id": "3521730", "url": "https://glygen.org/publication/PubMed/3521730" } ] }, { "title": "Complete amino acid sequence of a basic proline-rich peptide, P-F, from human parotid saliva.", "journal": "J. Biochem.", "date": "1983", "authors": "Saitoh E, Isemura S, Sanada K", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "6874669", "url": "https://glygen.org/publication/PubMed/6874669" } ] }, { "title": "Basic proline-rich proteins from human parotid saliva: complete covalent structure of protein IB-9 and partial structure of protein IB-6, members of a polymorphic pair.", "journal": "Biochemistry", "date": "1982", "authors": "Kauffman D, Wong R, Bennick A, Keller P", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "6924859", "url": "https://glygen.org/publication/PubMed/6924859" } ] }, { "title": "Fractionation and characterization of basic proline-rich peptides of human parotid saliva and the amino acid sequence of proline-rich peptide P-E.", "journal": "J. Biochem.", "date": "1982", "authors": "Isemura S, Saitoh E, Sanada K", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "7118863", "url": "https://glygen.org/publication/PubMed/7118863" } ] }, { "title": "PRB1, PRB2, and PRB4 coded polymorphisms among human salivary concanavalin-A binding, II-1, and Po proline-rich proteins.", "journal": "American journal of human genetics", "date": "1996", "authors": "Azen EA, Amberger E, Fisher S, Prakobphol A, Niece RL", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "reference": [ { "type": "PubMed", "id": "8554050", "url": "https://glygen.org/publication/PubMed/8554050" } ] } ], "pathway": [ { "id": "hsa:653247", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:653247", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "E9PXN1-1", "protein_name": "Proline-rich protein MP5", "gene_name": "Prb1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLLTAALLVLSSAQRQDEEITYEDSNSQLLEMGEQSQGYGHHFPKPPPGGMPPRPPSSDENDDGDEDGSEEDVNRPEEPPQHPPHPGHHHGPPPQGGPQQRPPQPGKQQGPPPQGGPQSPLRPGNQQGPPPQGGPQQRPPQPGNQQGPPLQGGPQGPLRPGNHEGPPPQGGPQGHPRPGNQQGPPPQGGLQRPPQPGNQQGPPPQRGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPPGSPQGPPRPGNQQGPPPQGGPQRPPQPRNHQGPPQYGNNEQPSYLWSLFA", "length": 296 }, "evidence": [ { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "E9Q7E4-1", "protein_name": "Predicted gene 8882", "gene_name": "Prb1c", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVILLTAALLVLSSAQREDEEITYEDSNSQLLEMGEQSQGYGHHFPKPPPGGMPPRPPSSDENDDGDEDGSEEDVNRPERPPQHPPHSGHHHGPPPQGDAQGPPRPGNQQGPPPPGPPPQGSSQQRSPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPQGGPQGPPRPGNQQGPPPQGGPQQRPTQPGNQQGPPQQGGPQGPPRPGNQQGPPPQGGPQGPPRPGNQQGPPPQGGPQRPPQPRNHQGPPQHGNNEQPSYLWSLFA", "length": 283 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P04280-1", "protein_name": "Basic salivary proline-rich protein 1", "gene_name": "PRB1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGPSPQGGNKPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPPQGDKSQSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPQQGGNRPQGPPPPGKPQGPPPQGDKSRSPQSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPPAQGGSKSQSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQAPPAGQPQGPPRPPQGGRPSRPPQ", "length": 392 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P05142-1", "protein_name": "Proline-rich protein HaeIII subfamily 1", "gene_name": "Prh1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLFTVALLALSSAQGPREENQNQIQIPNQRPPPSGFQPRPPVNGSQQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQQRPPQGPPPPGGPQQRPPQGPPPPGGPQPRPPQGPPPPGGPQLRPPQGPPPPAGPQPRPPQGPPPPAGPQPRPPQGPPPTGPQPRPTQGPPPTGGPQQRPPQGPPPPGGPQPRPPQGPPPPGGPQPSPTQGPPPTGGPQQTPPLAGNTQGPPQGRPQGPR", "length": 261 }, "evidence": [ { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P05143-1", "protein_name": "Proline-rich protein 2", "gene_name": "Prp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLFTVALLALSSAQGPREELQNQIQIPNQRPPPSGSQPRPPVNGSQQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQPRPPQGPPPPGGPQQRPPQGPPPPGGPQPRPPQGPPPPAGPQPRPPQGPPPPAGPHLRPTQGPPPTGGPQQRYPQSPPPPGGPQPRPPQGPPPPGGPHPRPTQGPPPTGPQPRPTQGPPPTGGPQQRPPQGPPPPGGPQPRPPQGPPPPTGPQPRPTQGPHPTGGPQQTPPLAGNPQGPPQGRPQGPQ", "length": 317 }, "evidence": [ { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P10163-1", "protein_name": "Basic salivary proline-rich protein 4", "gene_name": "PRB4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAESSSEDVSQEESLFLISGKPEGRRPQGGNQPQRPPPPPGKPQGPPPQGGNQSQGPPPPPGKPEGRPPQGGNQSQGPPPHPGKPERPPPQGGNQSQGPPPHPGKPESRPPQGGHQSQGPPPTPGKPEGPPPQGGNQSQGTPPPPGKPEGRPPQGGNQSQGPPPHPGKPERPPPQGGNQSHRPPPPPGKPERPPPQGGNQSQGPPPHPGKPEGPPPQEGNKSRSARSPPGKPQGPPQQEGNKPQGPPPPGKPQGPPPAGGNPQQPQAPPAGKPQGPPPPPQGGRPPRPAQGQQPPQ", "length": 310 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P10165-1", "protein_name": "Proline-rich proteoglycan 2", "gene_name": "Prpg2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLVVLLTAALLVLSSAQGVDEEVVYEDSSQQLELEQQSQGHGQHHPKPPPGGLPPRPPASDENGDGDDNDDGDDDGSGDDVNRPERPPQHGGNHHHPHHPPPAAGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRAPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGSPQGPPPPGGPQQRPPQGPPPQGGPQRPPQPGNPQGPPQQGGQQQSSFLWSFSA", "length": 295 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q04118-1", "protein_name": "Basic salivary proline-rich protein 3", "gene_name": "PRB3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLILLSVALLALSSAQSLNEDVSQEESPSVISGKPEGRRPQGGNQPQRTPPPPGKPEGRPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGQPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPHPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNKPQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPPHPGKPQGPPPQEGNKPQRPPPPGRPQGPPPPGGNPQQPLPPPAGKPQGPPPPPQGGRPHRPPQGQPPQ", "length": 351 }, "evidence": [ { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935858", "url": "http://www.informatics.jax.org/homology/45935858", "database": "MGI" }, { "id": "45935856", "url": "http://www.informatics.jax.org/homology/45935856", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q16378-1", "protein_name": "Proline-rich protein 4", "gene_name": "PRR4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLLVLLSVVLLALSSAQSTDNDVNYEDFTFTIPDVEDSSQRPDQGPQRPPPEGLLPRPPGDSGNQDDGPQQRPPKPGGHHRHPPPPPFQNQQRPPRRGHRQLSLPRFPSVSLQEASSFFQRDRPARHPQEQPLW", "length": 134 }, "evidence": [ { "id": "45935860", "url": "http://www.informatics.jax.org/homology/45935860", "database": "MGI" }, { "id": "45935859", "url": "http://www.informatics.jax.org/homology/45935859", "database": "MGI" }, { "id": "45935857", "url": "http://www.informatics.jax.org/homology/45935857", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q91X93-1", "protein_name": "Proline-rich protein BstNI subfamily 1", "gene_name": "Prb1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVLLTAALLVLSSAQRQDEEITYEDSNSQLLERGEKSQGYGHHFPKPPPGGMPPRPPSSDENNDGDEDGSEEDVNRPEGPPQHPPHPGHHHGPPQQGGPQGPPRPGNQQGPPPPGPPPQGSPQQRPPQPGKQQGPPPQGGSQGPPMPVNQQGPPPKGGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPPLHGGPQRPPQPGNQQGPPPQGGPQQRPPQPGNQQGPHPQGGLQGPPRPGNQQGPPPKGGPQRPPQPGYQQGPPPQGGPQGPPMPGNQQGPPPQGGLQQRPPQPGNPQGPPPQGGPQGPPRPGNQQGPPPQGGPQQRPPQPGNQQGPPPKGGPQRPPQPGYQQGPPPQGGPQGPPMSGNQQGPPPQGGLQQRPPQPGNPQGPSPQGGPQGPPRPGNQQGPPPQGGPQQRPPQPGNQQGPPQQGGPQGPPRPGNQQGPPPQGGPQRPSQPGNHQGPPQHGNKEQPNYLWSLFA", "length": 504 }, "evidence": [ { "id": "45935860", "url": "http://www.informatics.jax.org/homology/45935860", "database": "MGI" }, { "id": "P02812", "url": "https://omabrowser.org/oma/group/P02812/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 168, "end_pos": 170, "annotation": "n_glycosylation_sequon" }, { "start_pos": 230, "end_pos": 232, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated. In head and neck cancer patients, O-glycosylated with glucosylgalactosyl carbohydrate moiety. This modification would require prior hydroxylation on the lysine residue.", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "PubMed", "id": "8554050", "url": "https://glygen.org/publication/PubMed/8554050" }, { "database": "PubMed", "id": "20879038", "url": "https://glygen.org/publication/PubMed/20879038" } ] }, { "annotation": "Proteolytically cleaved at the tripeptide Xaa-Pro-Gln, where Xaa in the P(3) position is mostly lysine. The endoprotease may be of microbial origin.", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] }, { "annotation": "Pyroglutamate formation occurs on terminal Gln residues of cleaved peptides. Pyroglutamate formation found on at least Gln-398 and Gln-400.", "evidence": [ { "database": "UniProtKB", "id": "P02812", "url": "https://www.uniprot.org/uniprot/P02812" }, { "database": "PubMed", "id": "18463091", "url": "https://glygen.org/publication/PubMed/18463091" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 168, 230, 272 ], "o_linked_sites": [ 232 ], "snv_sites": [ 20, 22, 47, 68, 89, 129, 150, 168, 170, 191, 212, 230, 232, 274, 292, 315, 336, 354, 377 ], "glycation_sites": [], "phosphorylation_sites": [ 24, 52, 108, 110, 113 ], "sequon_annotation_sites": [ { "start_pos": 168, "end_pos": 170 }, { "start_pos": 230, "end_pos": 232 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "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": 1 } ], "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": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_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": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 32 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 32 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }