{ "uniprot_canonical_ac": "A0A0G2JXT8-1", "uniprot_ac": "A0A0G2JXT8", "uniprot_id": "A0A0G2JXT8_RAT", "mass": { "chemical_mass": 277844.0, "monoisotopic_mass": 277844.0 }, "refseq": { "ac": "NP_001100758", "name": "filamin-B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100758" }, "gene_names": [ { "name": "Flnb", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8" }, { "name": "Flnb", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006251842", "id": "XP_006251842" } ], "protein_names": [ { "name": "Filamin B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JXT8" }, { "name": "filamin, beta; filamin B, beta; filamin-B-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100758", "id": "NP_001100758" }, { "name": "filamin-B isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006251842", "id": "XP_006251842" }, { "name": "filamin-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100758", "id": "NP_001100758" } ], "function": [], "disease": [ { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylohumerofemoral hypoplasia", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "Aoiii", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "De 50A Chapelle dysplasia", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "De la Chapelle dysplasia", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia 1", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "evidence": [ { "id": "0050648", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:0050680", "recommended_name": { "id": "DOID:0050680", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050680", "name": "Boomerang dysplasia", "description": "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14." }, "synonyms": [ { "id": "MONDO:0007208", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "name": "Boomerang dysplasia", "description": "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." }, { "id": "MONDO:0007208", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "name": "Boomerang dysplasia", "description": "" }, { "id": "MONDO:0007208", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "name": "Boomerang-like skeletal dysplasia", "description": "" }, { "id": "MONDO:0007208", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "name": "dwarfism with short, bowed, rigid limbs and characteristic facies", "description": "" }, { "id": "MIM:112310", "resource": "MIM", "url": "https://www.omim.org/entry/112310", "name": "Boomerang dysplasia", "description": "Boomerang dysplasia" } ], "evidence": [ { "id": "0050680", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050680" } ] }, { "disease_id": "DOID:0060564", "recommended_name": { "id": "DOID:0060564", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060564", "name": "spinal disease", "description": "A bone disease that is located_in the spine." }, "synonyms": [], "evidence": [ { "id": "0060564", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060564" } ] }, { "disease_id": "DOID:0080006", "recommended_name": { "id": "DOID:0080006", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080006", "name": "bone development disease", "description": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." }, "synonyms": [], "evidence": [ { "id": "0080006", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080006" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "filaminopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "muscle filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, filamin C-related", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "evidence": [ { "id": "0080096", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] }, { "disease_id": "DOID:0090116", "recommended_name": { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "spondylocarpotarsal synostosis syndrome", "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3." }, "synonyms": [ { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "congenital scoliosis with unilateral unsegmented bar", "description": "" }, { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "SCT", "description": "" }, { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "congenital synspondylism", "description": "" }, { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "spondylocarpotarsal syndrome", "description": "" }, { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "spondylocarpotarsal synostosis", "description": "" }, { "id": "DOID:0090116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090116", "name": "vertebral fusion with carpal coalition", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "spondylocarpotarsal synostosis syndrome", "description": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "SCT", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "Synspondylism", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "congenital scoliosis with unilateral unsegmented bar", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "congenital synspondylism", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "spondylocarpotarsal syndrome", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "spondylocarpotarsal synostosis", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "spondylocarpotarsal synostosis syndrome", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "vertebral fusion with carpal coalition", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "Synspondylism congenital", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "Synspondylism, congenital", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "scoliosis, congenital with unilateral unsegmented bar", "description": "" }, { "id": "MONDO:0010094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "name": "scoliosis, congenital, with unilateral unsegmented Bar", "description": "" }, { "id": "MIM:272460", "resource": "MIM", "url": "https://www.omim.org/entry/272460", "name": "Spondylocarpotarsal synostosis syndrome", "description": "Spondylocarpotarsal synostosis syndrome" } ], "evidence": [ { "id": "0090116", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090116" } ] }, { "disease_id": "DOID:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, type 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "MPD4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "Williams distal myopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, 4", "description": "" }, { "id": "MIM:614065", "resource": "MIM", "url": "https://www.omim.org/entry/614065", "name": "Myopathy, distal, 4", "description": "Myopathy, distal, 4" } ], "evidence": [ { "id": "0111190", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ] }, { "disease_id": "DOID:11836", "recommended_name": { "id": "DOID:11836", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities." }, "synonyms": [ { "id": "DOID:11836", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11836", "name": "Congenital equinovarus", "description": "" }, { "id": "DOID:11836", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11836", "name": "Equinovarus deformity of foot", "description": "" }, { "id": "DOID:11836", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11836", "name": "congenital clubfoot", "description": "" }, { "id": "DOID:11836", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11836", "name": "congenital talipes equinovarus", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "clubfoot", "description": "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "club foot", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "clubbed foot", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "congenital clubfoot", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "congenital equinovarus", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "congenital talipes equinovarus", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "equinovarus deformity of foot", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "equinovarus deformity of foot (finding)", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "talipes", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "talipes equinovarus", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "CCF", "description": "" }, { "id": "MONDO:0007342", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "name": "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly", "description": "" }, { "id": "MIM:119800", "resource": "MIM", "url": "https://www.omim.org/entry/119800", "name": "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly", "description": "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly" } ], "evidence": [ { "id": "11836", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ] }, { "disease_id": "DOID:14764", "recommended_name": { "id": "DOID:14764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14764", "name": "Larsen syndrome", "description": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "synonyms": [ { "id": "DOID:14764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14764", "name": "dominant larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "dominant Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "MIM:150250", "resource": "MIM", "url": "https://www.omim.org/entry/150250", "name": "Larsen syndrome", "description": "Larsen syndrome" } ], "evidence": [ { "id": "14764", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14764" } ] }, { "disease_id": "DOID:2256", "recommended_name": { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone." }, "synonyms": [ { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Cartilage Development disorder", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Congenital anomaly of cartilage", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Osteochondrodysplasia syndrome", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "chondrodystrophy", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "skeletal dysplasia", "description": "" } ], "evidence": [ { "id": "2256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ] }, { "disease_id": "DOID:423", "recommended_name": { "id": "DOID:423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "synonyms": [], "evidence": [ { "id": "423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:423" } ] }, { "disease_id": "DOID:674", "recommended_name": { "id": "DOID:674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate." }, "synonyms": [ { "id": "DOID:674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:674", "name": "Palatoschisis", "description": "" } ], "evidence": [ { "id": "674", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:674" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "common_name": "Rat" } ], "gene": [ { "name": "Flnb", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "locus": { "chromosome": "15", "start_pos": 16962003, "end_pos": 17095006, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000009470", "url": "https://www.ensembl.org/id/ENSRNOG00000009470" } ] } } ], "crossref": [ { "id": "ENSRNOG00000009470", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000009470", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd21309", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21309", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd21313", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21313", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "306204", "url": "https://www.ncbi.nlm.nih.gov/gene/306204", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001298", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001298", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001589", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001589", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001715", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001715", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017868", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017868", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044801", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044801", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:306204", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:306204", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RAVPCKV", "url": "https://omabrowser.org/oma/group/RAVPCKV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "298396at2759", "url": "http://www.orthodb.org/?query=298396at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR38537", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR38537", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR38537:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR38537:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00307", "url": "http://pfam.xfam.org/family/PF00307", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00630", "url": "http://pfam.xfam.org/family/PF00630", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1169408", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "XP_006251842", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006251842", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1311915", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311915", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JXT8-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6GK95", "url": "https://www.uniprot.org/uniprot/A0A8I6GK95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6GK95-1", "url": "https://www.uniprot.org/uniprot/A0A8I6GK95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A8D5", "url": "https://www.uniprot.org/uniprot/D4A8D5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A8D5-1", "url": "https://www.uniprot.org/uniprot/D4A8D5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2602, "header": "tr|A0A0G2JXT8-1|A0A0G2JXT8_RAT Isoform 1 of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JXT8-1", "url": "", "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2602, "header": "tr|A0A0G2JXT8-1|A0A0G2JXT8_RAT Isoform 1 of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1" }, "locus": { "chromosome": "15", "start_pos": 17094881, "end_pos": 16963005, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000088264.2", "url": "https://www.ensembl.org/id/ENSRNOT00000088264.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070399.1", "url": "https://www.ensembl.org/id/ENSRNOP00000070399.1" } ] } }, { "isoform_ac": "A0A8I6GK95-1", "url": "", "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2556, "header": "tr|A0A8I6GK95-1|A0A8I6GK95_RAT Computationally mapped isoform of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1" }, "locus": { "chromosome": "15", "start_pos": 17094881, "end_pos": 16963005, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000106091.1", "url": "https://www.ensembl.org/id/ENSRNOT00000106091.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000092630.1", "url": "https://www.ensembl.org/id/ENSRNOP00000092630.1" } ] } }, { "isoform_ac": "D4A8D5-1", "url": "", "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2578, "header": "tr|D4A8D5-1|D4A8D5_RAT Computationally mapped isoform of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1" }, "locus": { "chromosome": "15", "start_pos": 17094881, "end_pos": 16963005, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000066546.2", "url": "https://www.ensembl.org/id/ENSRNOT00000066546.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000061198.1", "url": "https://www.ensembl.org/id/ENSRNOP00000061198.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "rno:306204", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:306204", "resource": "KEGG Pathway" }, { "id": "R-RNO-1169408", "name": "ISG15 antiviral mechanism", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1169408", "resource": "Reactome", "description": "ISG15 antiviral mechanism" } ], "orthologs": [ { "uniprot_canonical_ac": "O75369-1", "protein_name": "Filamin-B", "gene_name": "FLNB", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMYRKYHQRPTFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPQKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKAQGDASKVTAKGPGLEAVGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKPMQPGPHVVKIFFAGDTIPKSPFVVQVGEACNPNACRASGRGLQPKGVRIRETTDFKVDTKAAGSGELGVTMKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSIAITWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGGYNPDLVRAYGPGLEKSGCIVNNLAEFTVDPKDAGKAPLKIFAQDGEGQRIDIQMKNRMDGTYACSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLFASQEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGKDQEFTVDTRGAGGQGKLDVTILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTYDGHPVPGSPYTVEASLPPDPSKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTYAVTYVPLTAGMYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQVGGDHIKAHIANPSGASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKVAVTEGCQPSRVQAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGAHIPGSPFRVPVKDVVDPSKVKIAGPGLGSGVRARVLQSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYMVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDFAIDARDAGEGLLAVQITDQEGKPKRAIVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQTGDASKCLATGPGIASTVKTGEEVGFVVDAKTAGKGKVTCTVLTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSSLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPVIAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTGIQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPNHIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2602 }, "evidence": [ { "id": "45226491", "url": "http://www.informatics.jax.org/homology/45226491", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q80X90-1", "protein_name": "Filamin-B", "gene_name": "Flnb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGIEVEDPQGKNSVELLVEDRGNQVYRCVYKPVQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELGVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSVAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKSGCTINNPAEFIVDPKDAGSAPLKILAQDGEGQPIDIQMKSRMDGTYACSYTPLKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASQEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPLPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGTYAVTYVPLTAGMYTLTMKYGGELVPHFPAWVKVEPAIDTSGIKAFGPGIEGKDVFREATTDFTVDSRPLTQVGGDHIKAQITNPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDVPIPNSPFKVAVTEGCQPSRVHAQGPGLKEAFTNKSNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGTVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYRGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDNRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGQGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVRESITRTSRAPAVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLETGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLIGVKYGGPNHISRSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP", "length": 2602 }, "evidence": [ { "id": "45226491", "url": "http://www.informatics.jax.org/homology/45226491", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT8", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1398, "end_pos": 1400, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1837, "end_pos": 1839, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2125, "end_pos": 2127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2245, "end_pos": 2247, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2362, "end_pos": 2364, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2408, "end_pos": 2410, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2483, "end_pos": 2485, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2570, "end_pos": 2572, "annotation": 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], "sort_fields": [] } ] }