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

Summary

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

Location:: Xq22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (106032435..106038727, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (104464373..104470665, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (105276426..105282718, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Title: Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
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.
THBG is a potential plasma biomarker for COPD.
Title: Identification of thyroxine-binding globulin as a candidate plasma marker of chronic obstructive pulmonary disease.
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.
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.
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

DXS9706 (e-PCR)
- UniSTS:70922

GDB:192500 (e-PCR)
- UniSTS:99123

A007H29 (e-PCR)
- UniSTS:40811

MARC_8259-8260:996688468:1 (e-PCR)
- UniSTS:269946

SERPINA7_2610 (e-PCR)
- UniSTS:280991

STS-M14091 (e-PCR)
- UniSTS:79355

SERPINA7 (e-PCR)
- UniSTS:506619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in thyroid hormone transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	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

NG_021252.1 RefSeqGene

Range

5001..11293

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

106032435..106038727 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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, ...
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, ...