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    TG thyroglobulin [ Homo sapiens (human) ]

    Gene ID: 7038, updated on 3-Sep-2017
    Official Symbol
    TGprovided by HGNC
    Official Full Name
    thyroglobulinprovided by HGNC
    Primary source
    HGNC:HGNC:11764
    See related
    Ensembl:ENSG00000042832 MIM:188450; Vega:OTTHUMG00000164649
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGN; AITD3
    Summary
    Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]
    Orthologs
    Location:
    8q24.22
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (132866943..133134902)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133879149..134147146)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 71 Neighboring gene PHD finger protein 20 like 1 Neighboring gene uncharacterized LOC105375768 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene microRNA 7848 Neighboring gene Src like adaptor Neighboring gene uncharacterized LOC105375769 Neighboring gene uncharacterized LOC102723635 Neighboring gene WNT1 inducible signaling pathway protein 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Autoimmune thyroid disease 3
    MedGen: C1842444 OMIM: 608175 GeneReviews: Not available
    Compare labs
    Iodotyrosyl coupling defect
    MedGen: C0342194 OMIM: 274700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    NHGRI GWA Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    NHGRI GWA Catalog
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
      Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroid hormone synthesis, conserved biosystem (from KEGG)
      Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroxine (Thyroid Hormone) Production, organism-specific biosystem (from WikiPathways)
      Thyroxine (Thyroid Hormone) Production, organism-specific biosystemThyroxine hormone is produced in the thyroid gland from tyrosine and iodine. Thyrotropin-releasing hormone (TRH) is produced by the hypothalamus. It stimulates the production of thyroid-stimulating h...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    iodide transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    thyroid gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    thyroid hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015832.1 RefSeqGene

      Range
      5001..272939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003235.4NP_003226.4  thyroglobulin precursor

      See identical proteins and their annotated locations for NP_003226.4

      Status: REVIEWED

      Source sequence(s)
      AU141420, AU141607, AU141923, AU142151, U93033, X05615
      Consensus CDS
      CCDS34944.1
      UniProtKB/Swiss-Prot
      P01266
      Related
      ENSP00000220616.4, OTTHUMP00000227159, ENST00000220616.8, OTTHUMT00000379606
      Conserved Domains (6) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:21962718
      COesterase; Carboxylesterase family
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      132866943..133134902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013794.1XP_016869283.1  thyroglobulin isoform X3

    2. XM_006716622.3XP_006716685.1  thyroglobulin isoform X1

      Conserved Domains (6) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:21752697
      COesterase; Carboxylesterase family
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
    3. XM_017013793.1XP_016869282.1  thyroglobulin isoform X2

    4. XM_005251038.4XP_005251095.1  thyroglobulin isoform X5

      Conserved Domains (6) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:21322654
      COesterase; Carboxylesterase family
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
    5. XM_017013795.1XP_016869284.1  thyroglobulin isoform X4

      UniProtKB/Swiss-Prot
      P01266
    6. XM_017013796.1XP_016869285.1  thyroglobulin isoform X6

    7. XM_017013798.1XP_016869287.1  thyroglobulin isoform X8

    8. XM_005251040.4XP_005251097.1  thyroglobulin isoform X9

      Conserved Domains (5) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
    9. XM_017013799.1XP_016869288.1  thyroglobulin isoform X10

    10. XM_017013800.1XP_016869289.1  thyroglobulin isoform X12

      Conserved Domains (5) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
    11. XM_005251042.4XP_005251099.1  thyroglobulin isoform X11

      Conserved Domains (5) summary
      smart00211
      Location:15201567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95160
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam00086
      Location:662724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:14651510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892922
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
    12. XM_017013797.1XP_016869286.1  thyroglobulin isoform X7

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      133919854..134187744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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