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 ... See more...

Aliases for SERPINA7 Gene

Aliases for SERPINA7 Gene

  • Serpin Family A Member 7 2 3 5
  • Thyroxine-Binding Globulin 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 2 3
  • Thyroxin-Binding Globulin 2 3
  • T4-Binding Globulin 3 4
  • Serpin A7 3 4
  • TBG 3 4
  • Alpha-1 Antiproteinase, Antitrypsin 2
  • Mutant Serpin Family A Member 7 3
  • SERPINA7 5
  • TBGQTL 3

External Ids for SERPINA7 Gene

Previous HGNC Symbols for SERPINA7 Gene

  • TBG

Previous GeneCards Identifiers for SERPINA7 Gene

  • GC0XM100589
  • GC0XM102196
  • GC0XM103310
  • GC0XM104049
  • GC0XM105083
  • GC0XM105277
  • GC0XM094904

Summaries for SERPINA7 Gene

Entrez Gene Summary for SERPINA7 Gene

  • 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]

GeneCards Summary for SERPINA7 Gene

SERPINA7 (Serpin Family A Member 7) is a Protein Coding gene. Diseases associated with SERPINA7 include Thyroxine-Binding Globulin Quantitative Trait Locus and Hyperthyroxinemia. Among its related pathways are Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and hormone binding. An important paralog of this gene is SERPINA9.

UniProtKB/Swiss-Prot Summary for SERPINA7 Gene

Gene Wiki entry for SERPINA7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA7 Gene

Genomics for SERPINA7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINA7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ106038 Promoter/Enhancer 1.1 EPDnew ENCODE 250.7 -0.5 -467 1.8 CEBPA YY1 HOMEZ CTCF THAP11 FOXA2 SMAD4 RXRA SAP130 ETV4 SERPINA7 lnc-MUM1L1-1 PWWP3B
GH0XJ105820 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 0.1 +215.5 215529 4.8 TAF1 BHLHE40 SP1 L3MBTL2 ZNF24 ZNF143 CTCF CEBPB EZH2 NRK piR-57195-273 SERPINA7
GH0XJ106053 Enhancer 0.2 Ensembl 0.4 -15.7 -15674 1.2 SERPINA7 lnc-MUM1L1-1 PWWP3B
GH0XJ105910 Enhancer 0.4 ENCODE 0.1 +127.8 127783 0.2 CEBPA MAFK MAFG piR-57195-273 NRK lnc-SERPINA7-1 SERPINA7
GH0XJ106145 Enhancer 0.3 ENCODE 0.1 -106.7 -106656 0.2 TAL1 CBFA2T2 PWWP3B piR-49097-122 SERPINA7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA7

Top Transcription factor binding sites by QIAGEN in the SERPINA7 gene promoter:
  • CUTL1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HNF-1A
  • IRF-7A
  • Nkx2-5
  • Pbx1a
  • POU2F1
  • POU2F1a

Genomic Locations for SERPINA7 Gene

Latest Assembly
chrX:106,032,435-106,038,727
(GRCh38/hg38)
Size:
6,293 bases
Orientation:
Minus strand

Previous Assembly
chrX:105,276,426-105,282,718
(GRCh37/hg19 by Entrez Gene)
Size:
6,293 bases
Orientation:
Minus strand

chrX:105,277,197-105,282,729
(GRCh37/hg19 by Ensembl)
Size:
5,533 bases
Orientation:
Minus strand

Genomic View for SERPINA7 Gene

Genes around SERPINA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA7 Gene

Proteins for SERPINA7 Gene

  • Protein details for SERPINA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05543-THBG_HUMAN
    Recommended name:
    Thyroxine-binding globulin
    Protein Accession:
    P05543
    Secondary Accessions:
    • D3DUX1

    Protein attributes for SERPINA7 Gene

    Size:
    415 amino acids
    Molecular mass:
    46325 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINA7 Gene

neXtProt entry for SERPINA7 Gene

Post-translational modifications for SERPINA7 Gene

  • Glycosylation at Asn36, Asn99, Ile116, Asn165, and Asn253
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • THBG_HUMAN (750)

Other Protein References for SERPINA7 Gene

No data available for DME Specific Peptides for SERPINA7 Gene

Domains & Families for SERPINA7 Gene

Gene Families for SERPINA7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINA7 Gene

Suggested Antigen Peptide Sequences for SERPINA7 Gene

GenScript: Design optimal peptide antigens:
  • T4-binding globulin (THBG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05543

UniProtKB/Swiss-Prot:

THBG_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA7: view

Function for SERPINA7 Gene

Molecular function for SERPINA7 Gene

UniProtKB/Swiss-Prot Function:
Major thyroid hormone transport protein in serum.

Phenotypes From GWAS Catalog for SERPINA7 Gene

Gene Ontology (GO) - Molecular Function for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with SERPINA7: view
genes like me logo Genes that share phenotypes with SERPINA7: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINA7 Gene

Localization for SERPINA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA7 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA7 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space TAS,IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SERPINA7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINA7 Gene

Pathways & Interactions for SERPINA7 Gene

PathCards logo

SuperPathways for SERPINA7 Gene

SuperPathway Contained pathways
1 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with SERPINA7: view

Pathways by source for SERPINA7 Gene

1 KEGG pathway for SERPINA7 Gene

Gene Ontology (GO) - Biological Process for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
GO:0070327 thyroid hormone transport IMP 19415532
genes like me logo Genes that share ontologies with SERPINA7: view

No data available for SIGNOR curated interactions for SERPINA7 Gene

Drugs & Compounds for SERPINA7 Gene

(80) Drugs for SERPINA7 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levothyroxine Approved Pharma Carrier, substrate 0
Liothyronine Approved, Vet_approved Pharma Carrier, substrate 0
Furosemide Approved, Vet_approved Pharma Carrier, binder GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 288
Phenytoin Approved, Vet_approved Pharma Carrier, substrate 91
Tamoxifen Approved Pharma Carrier, inducer TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 469

(14) Additional Compounds for SERPINA7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA7: view

Transcripts for SERPINA7 Gene

mRNA/cDNA for SERPINA7 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA7

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:

Relevant External Links for SERPINA7 Gene

GeneLoc Exon Structure for
SERPINA7

Expression for SERPINA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA7 Gene

This gene is overexpressed in Liver (x52.5).

Protein differential expression in normal tissues from HIPED for SERPINA7 Gene

This gene is overexpressed in Serum (19.0), Synovial fluid (14.7), Plasma (11.1), and Vitreous humor (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINA7 Gene



Protein tissue co-expression partners for SERPINA7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA7

SOURCE GeneReport for Unigene cluster for SERPINA7 Gene:

Hs.76838

mRNA Expression by UniProt/SwissProt for SERPINA7 Gene:

P05543-THBG_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for SERPINA7 Gene

  • Liver(4.7)
  • Nervous system(4.5)
  • Bone marrow(4.1)
  • Thyroid gland(3.1)
  • Blood(2.7)
  • Heart(2)
genes like me logo Genes that share expression patterns with SERPINA7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA7 Gene

Orthologs for SERPINA7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERPINA7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERPINA7 29 30
  • 99.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERPINA7 29 30
  • 88.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINA7 29
  • 87.79 (n)
TBG 30
  • 82 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Serpina7 29 16 30
  • 81.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpina7 29
  • 81.64 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 51 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 44 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11271 29
Species where no ortholog for SERPINA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SERPINA7 Gene

ENSEMBL:
Gene Tree for SERPINA7 (if available)
TreeFam:
Gene Tree for SERPINA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA7: view image
Alliance of Genome Resources:
Additional Orthologs for SERPINA7

Paralogs for SERPINA7 Gene

Pseudogenes.org Pseudogenes for SERPINA7 Gene

genes like me logo Genes that share paralogs with SERPINA7: view

Variants for SERPINA7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA7 Gene

THBG_HUMAN-P05543
Genetic variants in SERPINA7 influence the serum levels of thyroxine-binding globulin and define the thyroxine-binding globulin quantitative trait locus (TBGQTL) [MIM:300932]. Individuals with low or high serum levels of thyroxine-binding globulin show, respectively, reduced or elevated protein-bound iodine but are euthyroid and do not manifest major metabolic alterations (PubMed:1294376, PubMed:1515456, PubMed:1901689, PubMed:1906047, PubMed:2155256, PubMed:2501669). Two qualitative TBG variants occur in particular populations. TBG-A is found in 40% of Australian aborigines, it has reduced affinity for thyroxine and triiodothyroxine and increased susceptibility to inactivation by heat or acid (PubMed:2495303). TBG-S ('s' for slow shift on isoelectic focusing) is found in blacks, Eskimos, Melanesians, Polynesians and Indonesians, but not in Caucasians; TBG-S is slightly more thermolabile (PubMed:2115061).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1050086 Pathogenic: Thyroxine-binding globulin, slow 106,036,488(-) C/Tp.Asp191Asn
NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn)
MISSENSE
rs1057524273 Uncertain Significance: not provided 106,033,560(-) C/A
NM_000354.6(SERPINA7):c.1188G>T (p.Leu396Phe)
MISSENSE
rs121909496 Association: Thyroxine-binding globulin quantitative trait locus 106,034,380(-) C/T
NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter)
NONSENSE
rs149192322 Benign: not provided 106,033,693(-) T/A
NM_000354.6(SERPINA7):c.1055A>T (p.Lys352Met)
MISSENSE
rs1804495 Pathogenic: Thyroxine-binding globulin, variant P 106,034,370(-) C/Ap.Leu303Phe
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA7 Gene

Variant ID Type Subtype PubMed ID
esv2752312 CNV gain 17911159
nsv521259 CNV gain 19592680
nsv528467 CNV gain 19592680
nsv7022 CNV insertion 18451855

Variation tolerance for SERPINA7 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.36; 81.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA7 Gene

Human Gene Mutation Database (HGMD)
SERPINA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA7
Leiden Open Variation Database (LOVD)
SERPINA7

SNP Genotyping and Copy Number Assays for research

Disorders for SERPINA7 Gene

MalaCards: The human disease database

(33) MalaCards diseases for SERPINA7 Gene - From: OMI, COP, and GCD

Disorder Aliases PubMed IDs
thyroxine-binding globulin quantitative trait locus
  • tbgqtl
hyperthyroxinemia
hyperthyroidism
  • overactive thyroid
hypothyroidism
  • thyroid deficiency
endemic goiter
  • iodine-deficiency-related endemic goitre
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA7

genes like me logo Genes that share disorders with SERPINA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA7 Gene

Publications for SERPINA7 Gene

  1. The structure of the human thyroxine binding globulin (TBG) gene. (PMID: 8268226) Akbari MT … Ramsden DB (Biochimica et biophysica acta 1993) 3 4 22
  2. Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family. (PMID: 1294376) Shirotani T … Shichiri M (Endocrinologia japonica 1992) 3 4 22
  3. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. (PMID: 1515456) Bertenshaw R … Refetoff S (Biochimica et biophysica acta 1992) 3 4 22
  4. 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. (PMID: 2155256) Mori Y … Refetoff S (The Journal of clinical endocrinology and metabolism 1990) 3 4 22
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3

Products for SERPINA7 Gene

  • Boster Bio Antibodies for SERPINA7
  • Boster Bio ELISA Kits for SERPINA7

Sources for SERPINA7 Gene