{ "uniprot_canonical_ac": "A2ACG1-1", "ptm_annotation": [], "sequence": { "header": "sp|A2ACG1-1|TLDC2_MOUSE Isoform 1 of TLD domain-containing protein 2 OS=Mus musculus OX=10090 GN=Tldc2 PE=3 SV=1 CANONICAL=A2ACG1-1", "length": 198, "sequence": "MEDTLSGEEGEEEEEEEPAPAPAPQDPVEPQLTEASQVLGASEIKQLSLHLPPRVTGHPWSLVFCTSRDGFSLRRLYRQMEGHSGPVLLLLRDQDGQMFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGHNSFFVKGDLDSLMMGSGSGQFGLWLDGDLYHGGSYPCATFNNEVLARREQFCIKELEAWVLS" }, "uniprot_id": "TLDC2_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [], "uniprot_ac": "A2ACG1", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1#A2ACG1-1", "isoform_ac": "A2ACG1-1", "locus": { "end_pos": 157088463, "strand": "-", "start_pos": 157096478, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000099140", "id": "ENSMUST00000099140", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000096743", "id": "ENSMUSP00000096743", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2ACG1-1|TLDC2_MOUSE Isoform 1 of TLD domain-containing protein 2 OS=Mus musculus OX=10090 GN=Tldc2 PE=3 SV=1 CANONICAL=A2ACG1-1", "length": 198, "sequence": "MEDTLSGEEGEEEEEEEPAPAPAPQDPVEPQLTEASQVLGASEIKQLSLHLPPRVTGHPWSLVFCTSRDGFSLRRLYRQMEGHSGPVLLLLRDQDGQMFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGHNSFFVKGDLDSLMMGSGSGQFGLWLDGDLYHGGSYPCATFNNEVLARREQFCIKELEAWVLS" } }, { "url": "https://www.uniprot.org/uniprot/A2ACG1#E9PZS3-1", "isoform_ac": "E9PZS3-1", "locus": { "end_pos": 157087055, "strand": "-", "start_pos": 157096478, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000166140", "id": "ENSMUST00000166140", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000129278", "id": "ENSMUSP00000129278", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PZS3-1|TLDC2_MOUSE Computationally mapped isoform of TLD domain-containing protein 2 OS=Mus musculus OX=10090 GN=Tldc2 PE=3 SV=1 CANONICAL=A2ACG1-1", "length": 212, "sequence": "MKGWQWRYTQLPTEMEDTLSGEEGEEEEEEEPAPAPAPQDPVEPQLTEASQVLGASEIKQLSLHLPPRVTGHPWSLVFCTSRDGFSLRRLYRQMEGHSGPVLLLLRDQDGQMFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGHNSFFVKGDLDSLMMGSGSGQFGLWLDGDLYHGGSYPCATFNNEVLARREQFCIKELEAWVLS" } } ], "pathway": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "A0PJX2-1", "protein_name": "TLD domain-containing protein 2", "sequence": { "length": 215, "sequence": "MRGLRWRYTRLPSQVEDTLSGEEGNEEEEEEEAAPDPAAAPEDPTVPQLTEASQVLSASEIRQLSFHFPPRVTGHPWSLVFCTSRDGFSLQSLYRRMEGCSGPVLLVLRDQDGQIFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGSNSFFVKGDLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPTFNNEVLARQEQFCIQELEAWLLS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2ACG1/", "id": "A2ACG1", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "tax_id": 9606 }, { "uniprot_canonical_ac": "D3ZQ38-1", "protein_name": "TBC/LysM-associated domain-containing 2", "sequence": { "length": 210, "sequence": "MKGRQWRYTQLPTEMEDTLSGEEGEEEEEEEPAPAPQDPVEPQLTEASQVLGASEIKQLSLHLPPRVTGHPWNLIFCTSRDGFSLQRLYRQMEGHSGPVLLLLRDQDGQMFGAFSSSALRLSKGFYGTGETFLFSFSPQLKVFKWTGHNSFFVKGDLDSLMMGSGSGQFGLWLDGDLYHGGSYPCATFNNEVLARREQFCIRELEAWALS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2ACG1/", "id": "A2ACG1", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": {}, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "name": "response to oxidative stress", "id": "GO:0006979" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903204", "pmid": "26668325", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "name": "negative regulation of oxidative stress-induced neuron death", "id": "GO:1903204" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "type": "synonym", "resource": "UniProtKB", "name": "Gm1332" }, { "url": "https://www.uniprot.org/uniprot/A2ACG1", "type": "recommended", "resource": "UniProtKB", "name": "Tldc2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000074628", "id": "ENSMUSG00000074628", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006571", "id": "IPR006571", "database": "InterPro" }, { "url": "http://www.informatics.jax.org/marker/MGI:2686178", "id": "2686178", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/QMEGCSG/", "id": "QMEGCSG", "database": "OMA" }, { "url": "http://pfam.xfam.org/family/PF07534", "id": "PF07534", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2ACG1", "id": "PR_A2ACG1", "database": "PRO" }, { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "isolated cerebellar hypoplasia/agenesis", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "isolated cerebellar agenesis", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "name": "cerebellar hypoplasia", "description": "" } ], "recommended_name": { "id": "DOID:0070339", "url": "http://disease-ontology.org/term/DOID:0070339", "resource": "Disease Ontology", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0070339#disease-associations", "id": "0070339", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 21987.0, "chemical_mass": 21987.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "name": "Tldc2", "locus": { "end_pos": 157096482, "strand": "+", "start_pos": 157087055, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000074628", "id": "ENSMUSG00000074628", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2ACG1", "type": "synonym", "resource": "UniProtKB", "name": "TBC/LysM-associated domain-containing protein 2" }, { "url": "https://www.uniprot.org/uniprot/A2ACG1", "type": "recommended", "resource": "UniProtKB", "name": "TLD domain-containing protein 2" } ] }