1. Gene
  2. TSHB - thyroid stimulating hormone subunit beta Gene

TSHB - thyroid stimulating hormone subunit beta Gene

中文名称:促甲状腺激素β亚基

种属: Homo sapiens

同用名: TSH-B; TSH-BETA

基因 ID: 7252 | 基因类型: protein coding

关于 TSHB

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:115,029,826-115,034,309 (from NCBI)

This gene has 1 transcript (splice variant), 248 orthologues, 9 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

四种人类糖蛋白激素绒毛膜促性腺激素 (CG) 、黄体生成素 (LH) 、促卵泡激素 (FSH) 和促甲状腺激素 (TSH) 是由非共价结合的 α 和 β 亚基组成的二聚体。这些激素的 alpha 亚基是相同的,但是它们的 beta 链是独特的并赋予生物特异性。促甲状腺激素在控制甲状腺结构和代谢方面发挥作用。该基因编码的蛋白质是促甲状腺激素的β亚基。该基因的突变与先天性中枢性和继发性甲状腺功能减退症以及桥本氏甲状腺炎有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2013 年 5 月]

The four human glycoprotein Hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these Hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

TSHB 基因产物(2)

mRNA Protein Name
NM_000549.5 NP_000540.2 thyrotropin subunit beta isoform 1 precursor
NM_001277991.1 NP_001264920.1 thyrotropin subunit beta isoform 2

TSHB 蛋白结构

Cys_knot

Cys_knot: Cystine-knot domain (20 - 125)

  • 0
  • 100
  • 138 a.a.
蛋白主名 其他名称

thyrotropin subunit beta

thyroid stimulating hormone beta

TSHB 抗体

目录号 产品名 应用 反应物种
HY-P83902 TSHB Antibody (YA3599) IHC-P, FC, ELISA Human
HY-P86012 TSHB Antibody (YA5704) IHC-P, ICC/IF, ELISA Human

关联疾病

疾病名称 别名
Hypothyroidism, Congenital, Nongoitrous, 4

Tsh Deficiency

CHNG4

Thyrotropin Deficiency, Isolated

Pituitary Cretinism

Congenital Nongoitrous Hypothyroidism 4

Isolated Thyrotropin Deficiency

Thyroid-Stimulating Hormone Deficiency

Hypothyroidism, Congenital, Nongoitrous 4

Thyroid-Stimulating Hormone, Deficiency Of

Isolated Thyroid-Stimulating Hormone Deficiency

Isolated Tsh Deficiency

Hypothyroidism, Congenital, Nongoitrous, Type 4

Secondary Hypothyroidism

Tsh - [Thyroid Stimulating Hormone] Deficiency

Central Congenital Hypothyroidism

Secondary Hypothyroidism

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Thyroiditis

Inflammation Of Thyroid

Thyroiditis Nos

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

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism

Combined Pituitary Hormone Deficiency

CPHD2

Ateliotic Dwarfism With Hypogonadism

Pituitary Dwarfism Iii

Hanhart Dwarfism

Simmond'S Disease

Simmonds' Disease

Cphd

Pituitary Hormone Deficiency, Combined

Hormone Deficiency, Pituitary, Combined, Type 2

Pituitary Dwarfism Type 3

Sheehan Syndrome

Suprasellar Meningioma
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

Hypothyroidism, Central, With Testicular Enlargement

X-Linked Central Congenital Hypothyroidism With Late-Onset Testicular Enlargement

CHTE

Hypothyroidism, Central, And Testicular Enlargement

Igsf1 Deficiency Syndrome

X-Linked Central Congenital Hypothyroidism With Late-Onset Macroorchidism

Central Hypothyroidism And Testicular Enlargement

Hypothyroidism, Central, Testicular Enlargement

Pituitary Adenoma

Adenoma Of The Pituitary Gland

Pituitary Adenomas

Adenoma, Pituitary

Pituitary Gland Adenoma

Pituitary Neoplasms

Tsh Producing Pituitary Tumor

Thyrotroph Adenoma

Tsh Producing Pituitary Tumour

Tsh Secreting Adenoma Of The Pituitary

Tsh Secreting Tumor Of Pituitary

Tsh Secreting Tumour Of Pituitary

Tsh-Secreting Pituitary Adenoma

Pituitary Thyrotrophic Adenoma

Tsh-Oma

Thyroid Stimulating Hormone-Secreting Pituitary Adenoma

Thyroid Stimulating Hormone-Producing Pituitary Tumor

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

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

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

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

Endemic Goiter

Iodine-Deficiency-Related Endemic Goitre

Simple Goitre

Goiter, Endemic

Euthyroid Goiter

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance

CHNG1

Hypothyroidism Due To Tsh Receptor Mutations

Thyrotropin Resistance

Thyroid-Stimulating Hormone

Rtsh

Hypothyroidism Due To Unresponsiveness To Thyrotropin

Congenital Nongoitrous Hypothyroidism 1

Thyroid-Stimulating Hormone, Resistance To

Hypothyroidism, Nonautoimmune

Hypothyroidism, Congenital, Due To Tsh Resistance

Hypothyroidism, Congenital, Non-Goitrous, 1

Congenital Hypothyroidism Due To Tsh Resistance

Non-Autoimmune Hypothyroidism

Thyroid-Stimulating Hormone Resistance

Hypothyroidism, Congenital, Nongoitrous, Type 1

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Hypothalamic Disease

Hypothalamic Diseases

Hypothalamic Dysfunction

Hypothalamic Disorder

Hypothalamic Dysfunction Syndromes

Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders

Myxedema
Functioning Pituitary Adenoma

Secretory Adenoma Of The Pituitary Gland

Endocrine Active Pituitary Adenoma

Secreting Pituitary Adenoma

Pituitary Adenoma, Functioning

Umbilical Hernia

Hernia, Umbilical

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

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 TSHB MGD MGI:98848
Bos taurus TSHB VGNC VGNC:36418
Rattus norvegicus TSHB RGD RGD:3910
Felis catus TSHB VGNC VGNC:66616
Macaca mulatta TSHB VGNC VGNC:106526
Canis familiaris TSHB VGNC VGNC:47901