{ "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", "gene_name": "TLDC2", "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", "gene_name": "Tldc2", "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://purl.obolibrary.org/obo/PR_PR_A2ACG1", "id": "PR_A2ACG1", "database": "PRO" }, { "url": "https://www.uniprot.org/uniprot/A2ACG1", "id": "A2ACG1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0070339", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.", "name": "isolated cerebellar hypoplasia/agenesis", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "subtotal absence of cerebellum", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "near total absence of cerebellum", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "Chiari 4 malformation", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "cerebellar hypoplasia", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "Chiari IV malformation", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "isolated cerebellar agenesis", "id": "MONDO:0008939" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008939", "resource": "MONDO", "description": "", "name": "congenital cerebellar Hypoplasia", "id": "MONDO:0008939" }, { "url": "https://www.omim.org/entry/213000", "resource": "MIM", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "id": "MIM:213000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0070339", "resource": "Disease Ontology", "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.", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "id": "DOID:0070339" }, "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#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "TBC/LysM-associated domain-containing protein 2" }, { "url": "https://www.uniprot.org/uniprot/A2ACG1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "TLD domain-containing protein 2" } ] }