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TG thyroglobulin [ Homo sapiens (human) ]

Gene ID: 7038, updated on 7-Aug-2014
Official Symbol
TGprovided by HGNC
Official Full Name
thyroglobulinprovided by HGNC
Primary source
HGNC:11764
See related
Ensembl:ENSG00000042832; HPRD:01782; 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]
Location:
8q24
Exon count:
52
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (132866916..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 uncharacterized LOC102723614 Neighboring gene PHD finger protein 20-like 1 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene microRNA 7848 Neighboring gene Src-like-adaptor Neighboring gene uncharacterized LOC102723635 Neighboring gene WNT1 inducible signaling pathway protein 1 Neighboring gene N-myc downstream regulated 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Autoimmune thyroid disease 3
MedGen: C1842444 OMIM: 608175 GeneReviews: Not available
not available
Iodotyrosyl coupling defect
MedGen: C0342194 OMIM: 274700 GeneReviews: Not available
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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
 
NOT neurexin family protein binding IRD
Inferred from Rapid Divergence
more info
 
NOT receptor activity IRD
Inferred from Rapid Divergence
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 
NOT synapse assembly IRD
Inferred from Rapid Divergence
more info
 
thyroid gland development IEP
Inferred from Expression Pattern
more info
PubMed 
thyroid hormone generation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
NOT cell surface IRD
Inferred from Rapid Divergence
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT integral component of plasma membrane IRD
Inferred from Rapid Divergence
more info
 
NOT synapse IRD
Inferred from Rapid Divergence
more info
 
Preferred Names
thyroglobulin
Names
thyroglobulin

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 

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

mRNA and Protein(s)

  1. NM_003235.4NP_003226.4  thyroglobulin precursor

    See proteins identical to NP_003226.4

    Status: REVIEWED

    Source sequence(s)
    AU141420, AU141607, AU141923, AU142151, U93033, X05615
    Consensus CDS
    CCDS34944.1
    UniProtKB/Swiss-Prot
    P01266
    Related
    ENSP00000220616, OTTHUMP00000227159, ENST00000220616, OTTHUMT00000379606
    Conserved Domains (5) summary
    smart00211
    Location:15201567
    Blast Score: 125
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 226
    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
    pfam00135
    Location:21962718
    Blast Score: 1170
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    Blast Score: 163
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 91
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    132866916..133134902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251040.2XP_005251097.1  

    Conserved Domains (4) summary
    smart00211
    Location:15201567
    Blast Score: 121
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 221
    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
    pfam07699
    Location:14651510
    Blast Score: 160
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 89
    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
  2. XM_005251043.2XP_005251100.1  

    Conserved Domains (4) summary
    smart00211
    Location:15201567
    Blast Score: 121
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 220
    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
    pfam07699
    Location:14651510
    Blast Score: 159
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 88
    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_005251042.2XP_005251099.1  

    Conserved Domains (4) summary
    smart00211
    Location:15201567
    Blast Score: 121
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 220
    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
    pfam07699
    Location:14651510
    Blast Score: 159
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 88
    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
  4. XM_006716623.1XP_006716686.1  

    Conserved Domains (4) summary
    smart00211
    Location:15201567
    Blast Score: 121
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 220
    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
    pfam07699
    Location:14651510
    Blast Score: 158
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 88
    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_006716622.1XP_006716685.1  

    Conserved Domains (5) summary
    smart00211
    Location:15201567
    Blast Score: 125
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 226
    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
    pfam00135
    Location:21752697
    Blast Score: 1170
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    Blast Score: 163
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 91
    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
  6. XM_005251038.2XP_005251095.1  

    Conserved Domains (5) summary
    smart00211
    Location:15201567
    Blast Score: 125
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    Blast Score: 226
    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
    pfam00135
    Location:21322654
    Blast Score: 1170
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    Blast Score: 164
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    Blast Score: 91
    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

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    129197896..129466621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

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