{ "uniprot_canonical_ac": "Q7TSK7-1", "uniprot_ac": "Q7TSK7", "uniprot_id": "ATL2_MOUSE", "mass": { "chemical_mass": 105647.0, "monoisotopic_mass": 105647.0 }, "refseq": { "ac": "NP_084257", "name": "ADAMTS-like protein 2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, "gene_names": [ { "name": "Adamtsl2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q7TSK7", "id": "Q7TSK7" }, { "name": "A930008K15Rik; tcp-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257", "id": "NP_084257" }, { "name": "Adamtsl2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257", "id": "NP_084257" }, { "name": "Kiaa0605", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7TSK7", "id": "Q7TSK7" }, { "name": "Tcp1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7TSK7", "id": "Q7TSK7" } ], "protein_names": [ { "name": "ADAMTS-like protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q7TSK7" }, { "name": "ADAMTS-like protein 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257", "id": "NP_084257" }, { "name": "ADAMTS-like protein 2; TSP1-repeats-containing protein 1; TSP1-repeat-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257", "id": "NP_084257" }, { "name": "ADAMTSL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TSK7" }, { "name": "TCP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TSK7" }, { "name": "TSP1-repeat-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TSK7" } ], "function": [ { "annotation": "Adamtsl2 deficiency is associated with Impairment of chondrogenesis and microfibrillar network.", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "30303737", "url": "https://glygen.org/publication/PubMed/30303737" } ] }, { "annotation": "Data suggest that induction of Adamtsl2 mRNA is an integral feature of myogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "17509843", "url": "https://glygen.org/publication/PubMed/17509843" } ] }, { "annotation": "O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "32913123", "url": "https://glygen.org/publication/PubMed/32913123" } ] }, { "annotation": "Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "37187448", "url": "https://glygen.org/publication/PubMed/37187448" } ] }, { "annotation": "The bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2(-/-) mice cannot be reversed by TGFbeta neutralization, and thus might be mediated by other mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "25762570", "url": "https://glygen.org/publication/PubMed/25762570" } ] }, { "annotation": "The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFbeta signalling in cardiac fibroblasts. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" }, { "database": "PubMed", "id": "34611183", "url": "https://glygen.org/publication/PubMed/34611183" } ] } ], "disease": [ { "disease_id": "DOID:0111725", "recommended_name": { "id": "DOID:0111725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111725", "name": "geleophysic dysplasia 1", "description": "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2." }, "synonyms": [ { "id": "DOID:0111725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111725", "name": "GPHYSD1", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "geleophysic dysplasia 1", "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "ADAMTSL2 geleophysic dysplasia", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "Geleophysic dysplasia type 1", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "geleophysic dysplasia 1", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "geleophysic dysplasia caused by mutation in ADAMTSL2", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "GELEOPHYSIC dysplasia 1", "description": "" }, { "id": "MONDO:0009269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009269", "name": "GPHYSD1", "description": "" }, { "id": "MIM:231050", "resource": "MIM", "url": "https://www.omim.org/entry/231050", "name": "Geleophysic dysplasia 1", "description": "Geleophysic dysplasia 1" } ], "evidence": [ { "id": "0111725", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111725" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388535490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388535490" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 320, "end_pos": 320, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGK->NGT).", "chr_id": "2", "chr_pos": "26983564", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388539485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388539485" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 548, "end_pos": 548, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "2", "chr_pos": "26985759", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A548", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSK7", "url": "https://www.uniprot.org/uniprot/Q7TSK7" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Adamtsl2", "url": "https://www.uniprot.org/uniprot/Q7TSK7", "locus": { "chromosome": "2", "start_pos": 26998993, "end_pos": 26969391, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000036040", "url": "https://www.ensembl.org/id/ENSMUSG00000036040" } ] } } ], "crossref": [ { "id": "ENSMUSG00000036040", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000036040", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "77794", "url": "https://www.ncbi.nlm.nih.gov/gene/77794", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0006012", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0006012", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q7TSK7", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q7TSK7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000884", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000884", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010294", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010294", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010909", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010909", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013273", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013273", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036383", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036383", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045371", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045371", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:77794", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:77794", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1925044", "url": "http://www.informatics.jax.org/marker/MGI:1925044", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "CGEGHQF", "url": "https://omabrowser.org/oma/group/CGEGHQF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2910701at2759", "url": "http://www.orthodb.org/?query=2910701at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723:SF147", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723:SF147", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00090", "url": "http://pfam.xfam.org/family/PF00090", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05986", "url": "http://pfam.xfam.org/family/PF05986", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08686", "url": "http://pfam.xfam.org/family/PF08686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19030", "url": "http://pfam.xfam.org/family/PF19030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19236", "url": "http://pfam.xfam.org/family/PF19236", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q7TSK7", "url": "http://purl.obolibrary.org/obo/PR_Q7TSK7", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-5173214", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q7TSK7", "url": "https://www.uniprot.org/uniprot/Q7TSK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TSK7-1", "url": "https://www.uniprot.org/uniprot/Q7TSK7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGRRQHPHWAWSLLAVAVVAGGAAPTEASDNSPTSNSLEGGADTTAYWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGTGNRTCVGTSKRYQLCRVQECPPDGRSFREEQCVSFNSRVYDGRAYQWKPLYPDDYVHISSKPCDLHCSTVDGQRQLTVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGVCQGDGSSCTHVTGNYRKGNNHLGYSLVTHIPAGARDIQIVERKKSADVLALADEAGFYFFNGNYKVDSPKNFNIAGTVVKYRRPMDVYETGIEYIVAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQSPHMHHLPPVYYSFSEAASQSTESTERQELDSARLLGFMQHNGSLYRQTSSERLGLNSQLFQPPAPEVELGPSRGQESNEVCKQASGGVCEGPPRGKGFQDHNATGRAFSADKDDREISAHFTSHELLSANTISDQLLGTGSESEEFSLNETMNSIFAQGAPRSSPAESLYVDYEENEGPAAYLINGSYLELSSDRINTSSEAPFPNTSASPPNLAGNRTHKARTRPKARKQGVSPADMYRWKLSSHEPCSATCTTGVMSTYAMCVRYDGVEVDDSYCDALTRPEPVHEFCAGRECQPRWETSSWSECSRTCGEGHQFRIVRCWKMLSPGFDSSVYSDLCEATEAVRPEERKTCRNPACGPQWEMSEWSECTAKCGERSVVTRDIRCSEDEKLCDPSTKPVGEKNCTGPPCDRQWTVSDWGPCSGSCGQGRTIRHVYCKTSDGRVVPESQCQTETKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELANGKPQIRSGPECGLARKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS", "length": 957, "header": "sp|Q7TSK7-1|ATL2_MOUSE Isoform 1 of ADAMTS-like protein 2 OS=Mus musculus OX=10090 GN=Adamtsl2 PE=1 SV=1 CANONICAL=Q7TSK7-1" }, "isoforms": [ { "isoform_ac": "Q7TSK7-1", "url": "", "sequence": { "sequence": "MDGRRQHPHWAWSLLAVAVVAGGAAPTEASDNSPTSNSLEGGADTTAYWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGTGNRTCVGTSKRYQLCRVQECPPDGRSFREEQCVSFNSRVYDGRAYQWKPLYPDDYVHISSKPCDLHCSTVDGQRQLTVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGVCQGDGSSCTHVTGNYRKGNNHLGYSLVTHIPAGARDIQIVERKKSADVLALADEAGFYFFNGNYKVDSPKNFNIAGTVVKYRRPMDVYETGIEYIVAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQSPHMHHLPPVYYSFSEAASQSTESTERQELDSARLLGFMQHNGSLYRQTSSERLGLNSQLFQPPAPEVELGPSRGQESNEVCKQASGGVCEGPPRGKGFQDHNATGRAFSADKDDREISAHFTSHELLSANTISDQLLGTGSESEEFSLNETMNSIFAQGAPRSSPAESLYVDYEENEGPAAYLINGSYLELSSDRINTSSEAPFPNTSASPPNLAGNRTHKARTRPKARKQGVSPADMYRWKLSSHEPCSATCTTGVMSTYAMCVRYDGVEVDDSYCDALTRPEPVHEFCAGRECQPRWETSSWSECSRTCGEGHQFRIVRCWKMLSPGFDSSVYSDLCEATEAVRPEERKTCRNPACGPQWEMSEWSECTAKCGERSVVTRDIRCSEDEKLCDPSTKPVGEKNCTGPPCDRQWTVSDWGPCSGSCGQGRTIRHVYCKTSDGRVVPESQCQTETKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELANGKPQIRSGPECGLARKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS", "length": 957, "header": "sp|Q7TSK7-1|ATL2_MOUSE Isoform 1 of ADAMTS-like protein 2 OS=Mus musculus OX=10090 GN=Adamtsl2 PE=1 SV=1 CANONICAL=Q7TSK7-1" }, "locus": { "chromosome": "2", "start_pos": 26998448, "end_pos": 26971717, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000091233", "url": "https://www.ensembl.org/id/ENSMUST00000091233" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000088774", "url": "https://www.ensembl.org/id/ENSMUSP00000088774" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 374, "start_aa": "Asn", "end_pos": 374, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn374", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 435, "start_aa": "Asn", "end_pos": 435, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn435", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 482, "start_aa": "Asn", "end_pos": 482, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn482", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 518, "start_aa": "Asn", "end_pos": 518, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn518", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 550, "start_aa": "Asn", "end_pos": 550, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn550", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 737, "start_aa": "Asn", "end_pos": 737, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn737", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 813, "start_aa": "Asn", "end_pos": 813, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn813", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q7TSK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TSK7#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2007", "authors": "Koo BH, Le Goff C, Jungers KA, Vasanji A, O'Flaherty J, Weyman CM, Apte SS", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "17509843", "url": "https://glygen.org/publication/PubMed/17509843" } ] }, { "title": "Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.", "journal": "Disease models & mechanisms", "date": "2015", "authors": "Hubmacher D, Wang LW, Mecham RP, Reinhardt DP, Apte SS", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "25762570", "url": "https://glygen.org/publication/PubMed/25762570" } ] }, { "title": "Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2019", "authors": "Delhon L, Mahaut C, Goudin N, Gaudas E, Piquand K, Le Goff W, Cormier-Daire V, Le Goff C", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "30303737", "url": "https://glygen.org/publication/PubMed/30303737" } ] }, { "title": "O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "32913123", "url": "https://glygen.org/publication/PubMed/32913123" } ] }, { "title": "The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFbeta signalling in cardiac fibroblasts.", "journal": "Scientific reports", "date": "2021", "authors": "Rypdal KB, Erusappan PM, Melleby AO, Seifert DE, Palmero S, Strand ME, Tonnessen T, Dahl CP, Almaas V, Hubmacher D, Apte SS, Christensen G, Lunde IG", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "34611183", "url": "https://glygen.org/publication/PubMed/34611183" } ] }, { "title": "Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2023-06", "authors": "Taye Nandaraj, Singh Mukti, Baldock Clair, Hubmacher Dirk", "evidence": [ { "database": "RefSeq", "id": "NP_084257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_084257" } ], "reference": [ { "type": "PubMed", "id": "37187448", "url": "https://glygen.org/publication/PubMed/37187448" } ] } ], "pathway": [ { "id": "mmu:77794", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:77794", "resource": "KEGG Pathway" }, { "id": "R-MMU-5173214", "name": "O-glycosylation of TSR domain-containing proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5173214", "resource": "Reactome", "description": "O-glycosylation of TSR domain-containing proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A4X6-1", "protein_name": "ADAMTS-like 2", "gene_name": "Adamtsl2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDSGWQRSRWAWSLLAMAVVAGGAASTEASDNSPTSNSLEGGADATAYWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGAGNRTCVGTSKRYQLCRVQECPPDGRSFREEQCVSFNSRVYDGRAYQWKPLYPDDYMHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGVCQGDGSSCTHVTGNYRKGDNHLGYSLVTHIPAGARDIQIVERKKSADVLALADEAGFYFFNGNYKVDSPKNFNIAGTVVKYRRPMDVYETGIEYIVAQGPTNQGLNVMVWNQNGKSPSITFEYTLLQSPHMHHLPPVYYSFSEAASESTESTERQELDSARLLGFLQHNGSLYGQPSSERLGLNSQLFPPTAPEVELGPSRGQETNEVCKQASGGVCEGPPRGKGFQDHNATGRALLGDKDDREISAHFTSHELLSANTISDQLLGTGSDSEEFSLNETMNSIFAQGAPRSSPAESLYVDYEENEGPAAYLINGSYLELNSDRINTSSEAPFPNTSASLPSLAGNRTHKARTRPKARKQGVSPADMYRWKLSSQEPCSATCTTGVMSAYAMCVRYDGVEVDDSYCDALTRPEPVHEFCAGRECQPRWETSSWSECSRTCGEGHQFRIVRCWKMLSPGFDSSVYSDLCEATEAVRPEERKTCRNPACGPQWEMSEWSECTAKCGERSVVTRDIRCSEDERLCDPNTRPVGEKNCTGPPCDRQWTVSDWGPCSGSCGQGRTIRHVYCKTSDGRVVPESQCQTETKPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVLCMELANGKPQMRSGSECGLARKPPEESTCFERPCFKWYTSPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVGRQACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS", "length": 957 }, "evidence": [ { "id": "45234483", "url": "http://www.informatics.jax.org/homology/45234483", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q86TH1-1", "protein_name": "ADAMTS-like protein 2", "gene_name": "ADAMTSL2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": 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"name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK7", "url": "https://www.uniprot.org/uniprot/Q7TSK7" } ], "pmid": "" }, { "name": "lobar bronchus epithelium development", "id": "GO:0060481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060481", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK7", "url": "https://www.uniprot.org/uniprot/Q7TSK7" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "microfibril binding", "id": "GO:0050436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050436", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK7", "url": "https://www.uniprot.org/uniprot/Q7TSK7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 374, "end_pos": 376, "annotation": "n_glycosylation_sequon" }, { "start_pos": 435, "end_pos": 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