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    SERPINA7 serpin family A member 7 [ Homo sapiens (human) ]

    Gene ID: 6906, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SERPINA7provided by HGNC
    Official Full Name
    serpin family A member 7provided by HGNC
    Primary source
    HGNC:HGNC:11583
    See related
    Ensembl:ENSG00000123561 MIM:314200; AllianceGenome:HGNC:11583
    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
    TBG; TBGQTL
    Summary
    There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]
    Expression
    Restricted expression toward liver (RPKM 70.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINA7 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106032435..106038727, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (104464373..104470665, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (105276426..105282718, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Nik related kinase Neighboring gene uncharacterized LOC105373304 Neighboring gene HNF1 motif-containing MPRA enhancer 3 Neighboring gene uncharacterized LOC105373305 Neighboring gene CTDSPL2 pseudogene 2 Neighboring gene PWWP domain containing 3B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. Janssen OE, et al. J Biol Chem, 1995 Nov 24. PMID 7499319
    2. Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis. Grasberger H, et al. Biochem J, 2002 Jul 1. PMID 11931635, Free PMC Article
    3. Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. Domingues R, et al. Eur J Endocrinol, 2002 Apr. PMID 11916615
    4. Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. Reutrakul S, et al. J Clin Endocrinol Metab, 2002 Mar. PMID 11889160
    5. Three novel mutations causing complete T(4)-binding globulin deficiency. Reutrakul S, et al. J Clin Endocrinol Metab, 2001 Oct. PMID 11600582

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
      Title: Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
    2. Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.
      Title: Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.
    3. The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency.
      Title: The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency.
    4. Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
      Title: Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
    5. Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
      Title: Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
    6. A new SERPINA7 variant associated with thyroxine-binding globulin deficiency in three siblings.
      Title: Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
    7. THBG is a potential plasma biomarker for COPD.
      Title: Identification of thyroxine-binding globulin as a candidate plasma marker of chronic obstructive pulmonary disease.
    8. 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.
      Title: A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
    9. TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity.
      Title: The allosteric modulation of thyroxine-binding globulin affinity is entropy driven.
    10. the TBG promoter has a role in sustaining transgene expression in liver-specific pattern
      Title: Human thyroxine binding globulin (TBG) promoter directs efficient and sustaining transgene expression in liver-specific pattern.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Thyroxine-binding globulin deficiency
    MedGen: C1839141 GeneReviews: Not available
    		Compare labs
    Thyroxine-binding globulin quantitative trait locus
    MedGen: C4310821 OMIM: 300932 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17820

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in thyroid hormone transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    thyroxine-binding globulin
    Names
    T4-binding globulin
    mutant serpin family A member 7
    serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
    serpin A7
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
    thyroxin-binding globulin

    NCBI Reference Sequences (RefSeq)

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    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_021252.1 RefSeqGene

      Range
      5001..11293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000354.6 → NP_000345.2  thyroxine-binding globulin precursor

      See identical proteins and their annotated locations for NP_000345.2

      Status: REVIEWED

      Source sequence(s)
      BC020747, BJ996322, T78892, Z83850
      Consensus CDS
      CCDS14518.1
      UniProtKB/Swiss-Prot
      D3DUX1, P05543
      UniProtKB/TrEMBL
      A0A3G1HEF1
      Related
      ENSP00000361644.1, ENST00000372563.2
      Conserved Domains (1) summary
      cd02056
      Location:46 → 409
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      106032435..106038727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724683.3 → XP_006724746.1  thyroxine-binding globulin isoform X1

      See identical proteins and their annotated locations for XP_006724746.1

      UniProtKB/TrEMBL
      A0A3G1HEF1
      Conserved Domains (1) summary
      cd02056
      Location:46 → 419
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    2. XM_005262180.5 → XP_005262237.1  thyroxine-binding globulin isoform X2

      See identical proteins and their annotated locations for XP_005262237.1

      UniProtKB/TrEMBL
      A0A3G1HEF1
      Conserved Domains (1) summary
      cd02056
      Location:46 → 354
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      104464373..104470665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327656.1 → XP_054183631.1  thyroxine-binding globulin isoform X1

      UniProtKB/TrEMBL
      A0A3G1HEF1

    2. XM_054327657.1 → XP_054183632.1  thyroxine-binding globulin isoform X2

      UniProtKB/TrEMBL
      A0A3G1HEF1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05543.2 GenPept UniProtKB/Swiss-Prot:P05543

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