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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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AITD3
Thyroglobulin gene
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gptkbp:associatedWith
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gptkb:Hashimoto's_thyroiditis
Graves' disease
congenital hypothyroidism
thyroid dyshormonogenesis
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gptkbp:associatedWithAutoimmunity
|
autoimmune thyroid disease
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gptkbp:biologicalProcess
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storage and synthesis of thyroid hormones
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gptkbp:clinicalTrialPhase
|
thyroglobulin measurement in blood
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gptkbp:discoveredBy
|
J.D. Vassart et al.
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gptkbp:encodes
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gptkb:thyroglobulin
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gptkbp:Entrez_Gene_ID
|
7038
|
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gptkbp:expressedIn
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thyroid gland
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gptkbp:expressionRegulation
|
TSH (thyroid-stimulating hormone)
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gptkbp:firstDescribed
|
1950s
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gptkbp:fullName
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gptkb:thyroglobulin
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gptkbp:function
|
precursor for thyroid hormones T3 and T4
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gptkbp:geneType
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protein-coding
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gptkbp:HGNC_ID
|
11764
|
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https://www.w3.org/2000/01/rdf-schema#label
|
TG gene
|
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gptkbp:length
|
2768 amino acids
over 270 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:8q24.22
chromosome 8
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ClinVar
gptkb:HGMD
can cause thyroid hormone deficiency
|
|
gptkbp:numberOfExons
|
48
|
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gptkbp:OMIM
|
188450
|
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gptkbp:organism
|
gptkb:Homo_sapiens
|
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gptkbp:orthologInChicken
|
TG
|
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gptkbp:orthologInCow
|
TG
|
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gptkbp:orthologInMouse
|
Tg
|
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gptkbp:pathway
|
endocrine system
thyroid hormone biosynthesis
|
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gptkbp:postTranslationalModification
|
glycosylation
disulfide bond formation
iodination
|
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gptkbp:product
|
homodimer
thyroglobulin precursor
|
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gptkbp:proteinFamily
|
thyroglobulin family
|
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gptkbp:proteinSecretion
|
secreted
|
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gptkbp:referenceGenome
|
NM_003235
|
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gptkbp:referenceSequenceProtein
|
NP_003226
|
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gptkbp:subcellularLocation
|
thyroid follicle lumen
|
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gptkbp:UniProtID
|
gptkb:P01266
|
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gptkbp:bfsParent
|
gptkb:Thyroglobulin
|
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gptkbp:bfsLayer
|
5
|