SERPINA7 (serpin family A member 7)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6906
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family A member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINA7
Synonyms (NCBI Gene) Gene synonyms aliases
TBG, TBGQTL
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.3
Summary Summary of gene provided in NCBI Entrez 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 tr
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs1050086 C>G,T Pathogenic Coding sequence variant, missense variant
rs1804495 C>A,T Pathogenic Coding sequence variant, missense variant, synonymous variant
rs2234036 C>T Pathogenic, benign, uncertain-significance Coding sequence variant, missense variant
rs28933689 A>T Pathogenic Coding sequence variant, missense variant
rs61754490 T>A,C Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 3094014
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways
MIM HGNC e!Ensembl
314200 11583 ENSG00000123561
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways
UniProt ID P05543
Protein name Thyroxine-binding globulin (Serpin A7) (T4-binding globulin)
Protein function Major thyroid hormone transport protein in serum.
PDB 2CEO , 2RIV , 2RIW , 2XN3 , 2XN5 , 2XN6 , 2XN7 , 4X30 , 4YIA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 44 → 412 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways
  KEGG  
  Thyroid hormone synthesis  
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