SERPINA7 Chromosome X

Serpin family A member 7
21 variants 21 Health Risk

Upload your DNA to see your personal genotypes for variants in SERPINA7.

What This Gene Does
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]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000123561
Associated Conditions (14)
Thyroxine-binding globulin quantitative trait locus
Thyroxine-binding globulin deficiency
partial
SERPINA7-related disorder
Thyroxine-binding globulin
variant P
Pancreatic adenocarcinoma
Colorectal cancer
Cholangiocarcinoma
Adrenocortical carcinoma
hereditary
variant A
slow
Chicago
Key Variants
RS121909496
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS2147840474
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS2147841010
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS2147841751
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS28933688
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS28937312
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS483352903
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS587776719
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS587776720
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS587776721
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS587776722
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
RS72554658
association
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
Health Risk
All Variants (21)
RSID Category Clinical Significance Conditions
RS121909496 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147840474 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147841010 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147841751 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS28933688 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS28937312 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS483352903 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776719 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776720 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776721 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776722 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS72554658 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS72554659 Health Risk association Thyroxine-binding globulin deficiency, partial, Thyroxine-binding globulin deficiency
RS765816848 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS146242514 Health Risk Conflicting classifications of pathogenicity SERPINA7-related disorder, SERPINA7-related disorder
RS1804495 Health Risk Conflicting classifications of pathogenicity Thyroxine-binding globulin, variant P, Thyroxine-binding globulin quantitative trait locus
RS2234036 Health Risk Conflicting classifications of pathogenicity Thyroxine-binding globulin, variant A, Thyroxine-binding globulin deficiency
RS1050086 Health Risk Pathogenic Thyroxine-binding globulin, slow, Thyroxine-binding globulin
RS2147841568 Health Risk Pathogenic Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS28933689 Health Risk Pathogenic Thyroxine-binding globulin deficiency, partial, Thyroxine-binding globulin deficiency
RS61754490 Health Risk Pathogenic Thyroxine-binding globulin, Chicago, Thyroxine-binding globulin
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