SERPINA7 - serpin family A member 7 Gene

Also Known as TBG; TBGQTL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6906

About SERPINA7

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:106,032,435-106,038,727 (from NCBI)

This gene has 3 transcripts (splice variants), 92 orthologues, 36 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 70.5).

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]

SERPINA7 Products (1)

mRNA Protein Name
NM_000354.6 NP_000345.2 thyroxine-binding globulin precursor
Biological Process GO Annotation Evidence References Source
involved in thyroid hormone transport IMP
IMP: Inferred from mutant phenotype
19415532 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERPINA7 Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (46 - 412)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
Protein Preferred Names Protein Names

thyroxine-binding globulin

  • T4-binding globulin

Recombinant SERPINA7 Proteins

Cat. No. Product Name Accession Purity
HY-P71079 Serpin A7 Protein, Human (HEK293, His) P05543 (A21-A415) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Thyroxine-Binding Globulin Quantitative Trait Locus
  • TBGQTL

  • Thyroxine-Binding Globulin Qtl

Hyperthyroxinemia
Euthyroid Sick Syndrome
  • Euthyroid Sick Syndromes

  • Sick-Euthyroid Syndrome

  • Ess - [Euthyroid Sick Syndrome]

  • Low-T3 Syndrome

  • Ntis - [Non-Thyroidal Illness Syndrome]

  • Tscitus - [Thyroid Allostasis In Critical Illness, Tumours, Uraemia And Starvation]

Hyperthyroidism
  • Overactive Thyroid

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Goiter
  • Goitre

Thyroid Hormone Resistance, Generalized, Autosomal Dominant
  • Thyroid Hormone Resistance Syndrome

  • Thyroid Hormone Resistance

  • GRTHD

  • Gthr

  • Thyroid Hormone Unresponsiveness

  • Generalized Thyroid Hormone Resistance

  • Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Thyroid Hormones

  • Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

  • Refetoff Syndrome

  • Thyroid Hormone Responsiveness Defect

  • Familial Euthyroid Hyperthyroxinemia, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

  • Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Placental Abruption
  • Abruptio Placentae

  • Abruptio Placenta

  • Abortion, Threatened

  • Threatened Miscarriage

  • Haemorrhage Specified As Due To Threatened Abortion

  • Spontaneous Threatened Abortion

Graves' Disease
  • Graves Disease

  • Exophthalmic Goiter

  • Basedow'S Disease

  • Grave'S Disease

  • Basedow Disease

  • Toxic Diffuse Goiter

  • Graves' Hyperthyroidism

  • Parry Disease

  • Autoimmune Hyperthyroidism

  • Toxic Multinodular Goiter

Congenital Disorder Of Glycosylation, Type Ia
  • CDG1A

  • Cdg Ia

  • Phosphomannomutase 2 Deficiency

  • Jaeken Syndrome

  • Pmm2-Congenital Disorder Of Glycosylation

  • Congenital Disorder Of Glycosylation Type Ia

  • Cdgia

  • Congenital Disorder Of Glycosylation Ia

  • Congenital Disorder Of Glycosylation 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

  • Cdgs1a

  • Pmm2-Cdg

  • Cdg-Ia

  • Congenital Disorder Of Glycosylation Type 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

  • Pmm Deficiency

  • Cdg Syndrome Type Ia

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ia

  • Cdg Syndrome Type 1a

  • Jaeken'S Syndrome

  • Pmm2 Deficiency

  • Glycosylation, Congenital Disorder Of, Type Ia

Thyroid Crisis
  • Thyrotoxic Crisis

  • Thyroid Storm

  • Thyrotoxic Storm

Turner Syndrome
  • Monosomy X

  • Gonadal Dysgenesis Turner Type

  • Ullrich-Turner Syndrome

  • Bonnevie-Ullrich Syndrome

  • Karyotype 45, X

  • Genital Dwarfism, Turner Type

  • Gonadal Dysgenesis

  • 45,X

  • Turner'S Syndrome

  • Gonadal Dysgenesis - Turner

  • Monosomy X Syndrome

  • Xo Syndrome

  • Genital Dwarfism

  • 45, X Syndrome

  • Bonnevie-Ulrich Syndrome

  • Chromosome X Monosomy X

  • Schereshevkii Turner Syndrome

  • Turner Varny Syndrome

  • Ts

  • 45,X Syndrome

  • 45,X/46,Xx Syndrome

  • Turners Syndrome

  • Gonadal Dysgenesis, 45,X

  • X0 Syndrome

Graves Disease 1
  • Thyrotoxicosis

  • Graves Disease, Susceptibility To, 1

  • GRD1

  • Grd

  • Hyperthyroidism, Autoimmune

  • Hyperthyroidism

  • Hyperactive Thyroid Gland

  • Overactive Thyroid

  • Toxic Diffuse Goitre

  • Toxic Primary Thyroid Hyperplasia

  • Stokes Disease

  • Thyrotoxicosis With Goitre

  • Thyrotoxicosis Struma

  • Graves Disease

  • Goitre With Hyperthyroidism

  • Basedow Disease

  • Exophthalmic Goitre

  • Exophthalmic Struma

  • Flajani Disease

  • Graves Disease With Exophthalmos

  • Hyperthyroid Goitre

  • Hyperthyroidism Struma

  • Thyroid Exophthalmos

  • Malignant Exophthalmos

  • Parry Disease

  • Toxic Diffuse Goitre With Exophthalmos

  • Toxic Goitre

  • Toxic Goitre Nos

  • Thyrotoxicosis Due To Uninodular Goitre

  • Toxic Thyroid Nodule

  • Toxic Uninodular Goitre

  • Uninodular Toxic Struma

  • Uninodular Toxic Struma With Hyperthyroidism

  • Thyrotoxicosis Due To Single Thyroid Nodule

  • Toxic Uninodular Goitre With Hyperthyroidism

  • Hyperthyroidism With Thyroid Nodule

  • Thyrotoxicosis With Toxic Uninodular Goitre

  • Uninodular Goitre In Hyperthyroidism

  • Uninodular Goitre In Thyrotoxicosis

  • Toxic Multinodular Goitre

  • Multinodular Goitre With Thyrotoxicosis

  • Thyrotoxicosis Nodular Goitre

  • Nodular Goitre With Thyrotoxicosis

  • Adenomatous Goitre With Hyperthyroidism

  • Multinodular Goitre With Hyperthyroidism

  • Nodular Goitre With Hyperthyroidism

  • Nodular Struma With Hyperthyroidism

  • Plummer Disease

  • Thyrotoxicosis Adenomatous Goitre

  • Thyrotoxicosis Adenomatous Struma

  • Toxic Adenomatous Goitre

  • Toxic Adenomatous Struma

  • Toxic Nodular Goitre Nos

  • Toxic Struma Nodosa

  • Toxic Nodular Struma

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Endemic Goiter
  • Iodine-Deficiency-Related Endemic Goitre

  • Simple Goitre

  • Goiter, Endemic

  • Euthyroid Goiter

Thyroiditis
  • Inflammation Of Thyroid

  • Thyroiditis Nos

Acute Thyroiditis
  • Infectious Thyroiditis

Corticosteroid-Binding Globulin Deficiency
  • CBG DEFICIENCY

  • Transcortin Deficiency

Polyneuropathy
  • Polyneuropathies

Thyroid Gland Disease
  • Abnormality Of The Thyroid Gland

  • Thyroid Diseases

Thyroid Hormone Resistance, Selective Pituitary
  • PRTH

  • Selective Pituitary Thyroid Hormone Resistance

  • Selective Pituitary Resistance To Thyroid Hormone

  • Familial Hyperthyroidism Due To Inappropriate Thyrotropin Secretion

  • Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion

  • Pituitary Resistance To Thyroid Hormone

Hashimoto Thyroiditis
  • Autoimmune Thyroiditis

  • Hashimoto Struma

  • Hashimoto'S Thyroiditis

  • Chronic Lymphocytic Thyroiditis

  • Lymphocytic Thyroiditis

  • Hashimoto Disease

  • Ht

  • Hashimoto'S Disease

  • Hashimoto'S Syndrome

  • Hypothyroidism, Autoimmune

  • Autoimmune Chronic Lymphocytic Thyroiditis

  • Chronic Lymphocytic Thyroiditides

  • Hashimoto Syndrome

  • Hashimotos Thyroiditis

  • Hashimoto Thyroiditis, Susceptibility To

  • Thyroiditis, Autoimmune

  • Lymphomatous Thyroiditis

  • Lymphoid Thyroiditis

  • Chronic Lymphadenoid Thyroiditis

  • Autoimmune Lymphocytic Chronic Thyroiditis

  • Goitre Lymphomatosa

  • Hashitoxicosis

  • Hashimoto Hypothyroidism

  • Lymphadenoid Goitre

  • Struma Lymphomatosa

  • Hyperthyroidism With Hashimoto Disease

  • Hashimoto Thyrotoxicosis

  • Thyrotoxicosis Due To Hashimoto Thyroiditis

  • Struma Lymphomatosis

  • Lymphadenoid Struma

Plummer'S Disease
  • Toxic Nodular Goiter

  • Plummer Disease

  • Goiter Toxic Nodular

Subacute Thyroiditis
  • Giant-Cell Thyroiditis

  • Granulomatous Thyroiditis

  • Subacute Granulomatous Thyroiditis

  • De Quervain'S Thyroiditis

  • Thyroiditis Subacute

  • Thyroiditis, Subacute

  • Pseudogranulomatous Thyroiditis

  • De Quervain Thyroiditis

  • Nonsuppurative Subacute Thyroiditis

  • Pseudotuberculous Thyroiditis

  • Nonsuppurative Thyroiditis Nos

Abnormality Of Glucagon Secretion
  • Glucagon Secretion Abnormality

  • Abnormality Of Secretion Of Glucagon

Wild-Type Amyloidosis
  • Senile Systemic Amyloidosis

  • Attrwt Amyloidosis

  • Age Related Amyloidosis

  • Old Age Amyloidosis

  • Wild-Type Attr Amyloidosis

  • Wild-Type Transthyretin Cardiac Amyloidosis

  • Wild Type Attr Amyloidosis

  • Attrwt-Related Amyloidosis

  • Wild Type Attr-Related Amyloidosis

Nontoxic Goiter
  • Goiter, Non-Toxic

  • Goitre, Non-Toxic

  • Nodule-Thyroid, Non Tox

  • Non-Toxic Goitre

  • Non-Toxic Simple Goitre

  • Goitre Nos

  • Goitre Struma

  • Enlarged Thyroid Gland

  • Thyromegaly

  • Thyroid Hypertrophy

  • Thyroid Gland Hypertrophy

  • Thyroid Hyperplasia

  • Thyroid Gland Hyperplasia

  • Swelling Of Thyroid Gland

  • Substernal Thyroid Mass

  • Substernal Goitre

  • Substernal Thyroid

  • Retrosternal Thyroid Struma

  • Sporadic Nodular Struma

  • Struma Of Thyroid

  • Retrosternal Goitre

  • Plunging Goitre

  • Nontoxic Nodular Goitre

  • Nodular Struma

  • Form Of Goitre

  • Hyperplastic Goitre

  • Hypertrophic Thyroid

  • Intrathoracic Goitre

  • Nodular Goitre

Myxedema
Allan-Herndon-Dudley Syndrome
  • AHDS

  • Allan-Herndon Syndrome

  • Monocarboxylate Transporter 8 Deficiency

  • MCT8 DEFICIENCY

  • Mental Retardation, X-Linked, With Hypotonia

  • Triiodothyronine Resistance

  • T3 Resistance

  • Mental Retardation And Muscular Atrophy

  • Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

  • Intellectual Disability And Muscular Atrophy

  • Monocarboxylate Transporter-8 Deficiency

  • T3 Resisitence

  • Triiodothyronine Resistence

  • X-Linked Intellectual Disability With Hypotonia

  • Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

  • Monocarboxylate Transporter 8 Deficiency

  • X-Linked Intellectual Disability-Hypotonia Syndrome

Familial Thyroid Dyshormonogenesis
  • Thyroid Dyshormonogenesis

  • Familial Dyshormonogenetic Goiter

Estrogen Excess
  • Hyperestrogenism

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

Sleeping Sickness
  • African Trypanosomiasis

  • African Sleeping Sickness

  • Trypanosomiasis, Human East-African

  • Trypanosomiasis, East African

  • Trypanosomiasis African

  • Trypanosomiasis, African

  • Human African Trypanosomiasis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SERPINA7 MGD MGI:3041197
Canis familiaris SERPINA7 VGNC VGNC:46026
Rattus norvegicus SERPINA7 RGD RGD:619833
Bos taurus SERPINA7 VGNC VGNC:34469
Felis catus SERPINA7 VGNC VGNC:65024
Macaca mulatta SERPINA7 VGNC VGNC:77221
Others SERPINA7 NCBI