1. Gene
  2. FSHB - follicle stimulating hormone subunit beta Gene

FSHB - follicle stimulating hormone subunit beta Gene

中文名称:卵泡刺激素β亚基

种属: Homo sapiens

同用名: HH24

基因 ID: 2488 | 基因类型: protein coding

关于 FSHB

Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,231,014-30,235,194 (from NCBI)

This gene has 3 transcripts (splice variants), 140 orthologues, 9 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

垂体糖蛋白激素家族包括促卵泡激素、黄体生成素、绒毛膜促性腺激素和促甲状腺激素。所有这些糖蛋白都由一个相同的α亚基和一个激素特异性β亚基组成。该基因编码促卵泡激素的β亚基。促卵泡激素与黄体生成素一起诱导卵子和精子的产生。可变剪接导致编码相同蛋白质的两个转录变体。[RefSeq 提供,2008 年 7 月]

The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

FSHB 基因产物(3)

mRNA Protein Name
NM_000510.4 NP_000501.1 follitropin subunit beta precursor
NM_001018080.3 NP_001018090.1 follitropin subunit beta precursor
NM_001382289.1 NP_001369218.1 follitropin subunit beta precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables follicle-stimulating hormone activity IDA
IDA: 通过直接分析推断
2494176 GOA
enables follicle-stimulating hormone activity IMP
IMP: 通过突变表型推断
11514332 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11222739 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
24692546 GOA
involved in positive regulation of steroid biosynthetic process IDA
IDA: 通过直接分析推断
2494176 GOA
involved in regulation of signaling receptor activity IDA
IDA: 通过直接分析推断
24692546 GOA
involved in transforming growth factor beta receptor signaling pathway IEP
IEP: 通过表达模式推断
14557487 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14602737 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
2494176 GOA
part of follicle-stimulating hormone complex IDA
IDA: 通过直接分析推断
2494176 GOA
part of follicle-stimulating hormone complex IPI
IPI: 通过物理相互作用推断
11222739 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

FSHB 蛋白结构

Cys_knot

Cys_knot: Cystine-knot domain (19 - 122)

  • 0
  • 100
  • 129 a.a.
蛋白主名 其他名称

follitropin subunit beta

FSH-B

重组 FSHB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70237 FSH Protein, Human (HEK293, Flag-His) P01215 (A25-S116)&P01225 (N19-E129) ≥95%
HY-P70238 FSH beta Protein, Human (HEK293, His) P01225 (N19-E129) ≥95%
HY-P74133 FSH Protein, Human (HEK293, Fc) P01215 (A25-S116)&P01225 (N19-E129) ≥95%

关联疾病

疾病名称 别名
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia

Follicle-Stimulating Hormone Deficiency, Isolated

Hypogonadotropic Hypogonadism 24 Without Anosmia

HH24

Isolated Fsh Deficiency

Isolated Follicle-Stimulating Hormone Deficiency

Isolated Follicle-Stimulating Hormone Deficiency

Isolated Follicle Stimulating Hormone Deficiency

Hypogonadism, Hypogonadotropic, Type 24, Without Anosmia

Isolated Follitropin Deficiency

Hypogonadism
Infertility
Amenorrhea

Absence Of Menstruation

Amenia

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Ovarian Hyperstimulation Syndrome

OHSS

Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous

Secondary Meig'S Syndrome

Ohss - [Ovarian Hyperstimulation Syndrome]

Hyperstimulation Of Ovaries Nos

Hyperstimulation Of Ovaries Associated With Induced Ovulation

Anovulation
Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome

Pcos

Polycystic Ovarian Disease

Polycystic Ovaries

Stein-Leventhal Syndrome

Multicystic Ovaries

Polycystic Ovary

Sclerocystic Ovaries

Sclerocystic Ovary Syndrome

Stein-Leventhal Synd.

Cystic Disease Of Ovaries

Cystic Disease Of Ovary

Pco

Pcod

Sclerocystic Ovarian Degeneration

Polycystic Ovary Syndrome, Susceptibility To

Pcos - [Polycystic Ovary Syndrome]

Polycystic Ovary Nos

Pco - [Polycystic Ovary]

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p

Hypopituitarism

Pituitary Hypofunction

Pituitary Insufficiency

Pituitary Hormone Deficiency

Subpituitarism

Hypophyseal Dystrophy

Hypohypophysism

Anterior Pituitary Insufficiency

Deficient Secretion Of One Or More Pituitary Hormones

Hypopituitarism Syndrome

Pituitary Deficiency

Pituitary Failure

Pituitary Insufficiency Nos

Anterior Pituitary Hypofunction

Deficient Secretion Of All Pituitary Hormones

Hypopituitary Dwarfism

Hyposomatotropic Dwarfism

Hypophyseal Dwarfism

Hypopituitary Cachexia

Hypophyseal Short Stature

Panhypopituitarism Syndrome

Pituitary Cachexia

Juvenile Hypopituitarism

Pituitary Dwarfism

Pituitary Gland Hypofunction

Primary Hypopituitarism

Secondary Hypogonadism

Prepubertal Panhypopituitarism

Prepubertal Dwarfism

Postpartum Panhypopituitary Syndrome

Postpartum Hypopituitarism

Pituitary Short Stature

Pituitary Infantilism

Pituitary Hypogonadism

Pituitary Hypoadrenocorticism

Neonatal Thyrotoxicosis
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

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
Canis familiaris FSHB VGNC VGNC:40996
Felis catus FSHB VGNC VGNC:62378
Rattus norvegicus FSHB RGD RGD:2630
Macaca mulatta FSHB VGNC VGNC:101088
Mus musculus FSHB MGD MGI:95582
Macaca fascicularis FSHB NCBI NCBI:101864888
Others FSHB NCBI