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  2. SERPINA7 - serpin family A member 7 Gene

SERPINA7 - serpin family A member 7 Gene

中文名称:serpin 家族成员 7

种属: Homo sapiens

同用名: TBG; TBGQTL

基因 ID: 6906 | 基因类型: protein coding

关于 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).

功能概要

有三种蛋白质,包括甲状腺素结合球蛋白 (TBG) 、转甲状腺素蛋白和白蛋白,负责在血液中携带甲状腺激素甲状腺素 (T4) 和 3,5,3'-三碘甲腺原氨酸 (T3) 。该基因编码血清中主要的甲状腺激素转运蛋白 TBG。它属于基因组学中的丝氨酸蛋白酶抑制蛋白家族,但该蛋白与丝氨酸蛋白酶抑制蛋白家族的许多其他成员一样没有抑制功能。该基因的突变导致 TGB 缺乏,根据血清 TBG 水平分为部分缺乏、完全缺乏和过量。已发现编码不同亚型的选择性剪接转录变体,但这些变体的全长性质尚未确定。[RefSeq 提供,2012 年 6 月]

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 基因产物(1)

mRNA Protein Name
NM_000354.6 NP_000345.2 thyroxine-binding globulin precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in thyroid hormone transport IMP
IMP: 通过突变表型推断
19415532 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SERPINA7 蛋白结构

Serpin

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

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
蛋白主名 其他名称

thyroxine-binding globulin

T4-binding globulin

重组 SERPINA7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71079 Serpin A7 Protein, Human (HEK293, His) P05543 (A21-A415) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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