Property Summary

NCBI Gene PubMed Count 43
PubMed Score 1106.56
PubTator Score 946.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -3.536 4.1e-03

Gene RIF (11)

PMID Text
25361180 mutation in a liver-specific enhancer region of the TBG gene caused inherited TBG deficiency. To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region.
23458682 TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity.
22820390 the TBG promoter has a role in sustaining transgene expression in liver-specific pattern
21325280 Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins.
20429632 Freshly isolated TBG-Chicago exists in loop expelled conformation. At 37C, the protein readily converts to a more stable loop inserted conformation with enhanced heat stability.
19415532 new serpina7 gene variant in three members of the same family results in the replacement of the normal asparagine 233 by isoleucine and, subsequently, in disruption of a glycosylation site
17887925 guanine deletion at position 1711, codon 201 (Asp) in exon 2 (GAC --> AC) led to a frame shift and premature termination at codon 206, causing a short TBG protein of 205 amino acids (AA) compared to 395 AA of the normal TBG.
11931635 Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis.
11916615 Two novel variants in the thyroxine-binding globulin gene behind the diagnosis of TBG deficiency. homozygous. One involved codon 23 (TCA-->TAA) and the other, codon 223.
11889160 an intragenic A/G polymorphism (125 bp upstream from exon 2) was identified. complete TBG deficiency was homozygous for the polymorphic TBG allele.
8232304 The first exon (exon 0) is a short noncoding sequence located 1.62 kilobase pairs (kbp) upstream from exon 1. HNF-1 site (located 65 bp upstream of the TSS) is required for the hepatocyte specific expression of the hTBG gene.

AA Sequence

MSPFLYLVLLVLGLHATIHCASPEGKVTACHSSQPNATLYKMSSINADFAFNLYRRFTVETPDKNIFFSP      1 - 70
VSISAALVMLSFGACCSTQTEIVETLGFNLTDTPMVEIQHGFQHLICSLNFPKKELELQIGNALFIGKHL     71 - 140
KPLAKFLNDVKTLYETEVFSTDFSNISAAKQEINSHVEMQTKGKVVGLIQDLKPNTIMVLVNYIHFKAQW    141 - 210
ANPFDPSKTEDSSSFLIDKTTTVQVPMMHQMEQYYHLVDMELNCTVLQMDYSKNALALFVLPKEGQMESV    211 - 280
EAAMSSKTLKKWNRLLQKGWVDLFVPKFSISATYDLGATLLKMGIQHAYSENADFSGLTEDNGLKLSNAA    281 - 350
HKAVLHIGEKGTEAAAVPEVELSDQPENTFLHPIIQIDRSFMLLILERSTRSILFLGKVVNPTEA         351 - 415
//

Text Mined References (47)

PMID Year Title
25361180 2015 A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23458682 2013 The allosteric modulation of thyroxine-binding globulin affinity is entropy driven.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22820390 2012 Human thyroxine binding globulin (TBG) promoter directs efficient and sustaining transgene expression in liver-specific pattern.
21325280 2011 Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins.
21269460 2011 Initial characterization of the human central proteome.
20429632 2010 Explanation for the high heat stability of thyroxine binding globulin-Chicago.
19838169 2009 Enrichment of glycopeptides for glycan structure and attachment site identification.
19415532 2009 A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18407078 1992 Molecular basis of inherited thyroxine-binding globulin defects.
17887925 2007 A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency.
16938877 2006 Structural mechanism for the carriage and release of thyroxine in the blood.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11916615 2002 Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency.
11600582 2001 Three novel mutations causing complete T(4)-binding globulin deficiency.
11147833 2000 Linkage between the hormone binding site and the reactive center loop of thyroxine binding globulin.
11061524 2000 A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.
9768672 1998 Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
9510125 1998 Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
8530630 1995 Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families.
8268226 1993 The structure of the human thyroxine binding globulin (TBG) gene.
8232304 1993 Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
7951486 1993 Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ).
7557975 1995 Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization.
7499319 1995 Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago.
3094014 1986 Complete amino acid sequence of human thyroxine-binding globulin deduced from cloned DNA: close homology to the serine antiproteases.
2969453 1988 Cloning of a complementary deoxyribonucleic acid coding for human thyroxine-binding globulin (TBG): existence of two TBG messenger ribonucleic acid species possessing different 3'-untranslated regions.
2501669 1989 A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.
2495303 1989 Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.
2155256 1990 Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.
2115061 1990 Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
1943753 1991 Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
1906892 1991 Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families.
1906047 1991 Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
1903654 1991 Molecular cloning and primary structure of rat thyroxine-binding globulin.
1901689 1991 Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
1515456 1992 Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions.
1294376 1992 Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
414747 1977 Partial amino acid sequence of human thyroxine-binding globulin. Further evidence for a single polypeptide chain.