2. Gene
  3. GDF9 - growth differentiation factor 9 Gene

GDF9 - growth differentiation factor 9 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：生长分化因子 9

种属: Homo sapiens

同用名: POF14

基因 ID: 2661 | 基因类型: protein coding

关于 GDF9

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,861,185-132,866,651 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues, 31 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 3.7), heart (RPKM 1.7) and 25 other tissues.

功能概要

该基因编码 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。该家族的配体结合各种 TGF-β 受体，导致调节基因表达的 SMAD 家族转录因子的募集和激活。编码的前原蛋白经过蛋白水解处理，生成二硫键连接的同型二聚体的每个亚基。这种蛋白质调节卵巢功能。该基因的表达减少可能与多囊卵巢综合征有关，并且该基因的突变在异卵双胞胎的母亲中可能更为常见。[RefSeq 提供，2016 年 7 月]

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]

GDF9 基因产物(6)

mRNA Protein Name
NM_001288824.4 NP_001275753.1 growth/differentiation factor 9 isoform 2
NM_001288825.4 NP_001275754.1 growth/differentiation factor 9 isoform 2
NM_001288826.3 NP_001275755.1 growth/differentiation factor 9 isoform 2
NM_001288827.3 NP_001275756.1 growth/differentiation factor 9 isoform 2
NM_001288828.3 NP_001275757.1 growth/differentiation factor 9 isoform 2
NM_005260.7 NP_005251.1 growth/differentiation factor 9 isoform 1 preproprotein
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 positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
19366876 GOA
involved in regulation of progesterone secretion IDA
IDA: 通过直接分析推断
12050262 GOA
involved in regulation of progesterone secretion IMP
IMP: 通过突变表型推断
20660033 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

GDF9 蛋白结构

TGF_beta

TGF_beta: Transforming growth factor beta like domain (351 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
蛋白主名 其他名称

growth/differentiation factor 9

重组 GDF9 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72425 GDF-9 Protein, Human (GST) O60383 (G320-R454) ≥95%

关联疾病

疾病名称 别名
Premature Ovarian Failure 14

POF14
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]
Ovarian Disease

Ovarian Dysfunction

Ovarian Diseases

Ovarian Disorders

Disorder Of Endocrine Ovary
Infertility
Genetic Non-Acquired Premature Ovarian Failure
Premature Ovarian Failure 1

Ovarian Failure, Premature

Fmr1-Related Primary Ovarian Insufficiency

Fragile X-Associated Primary Ovarian Insufficiency

POF1

Pofx

Hypergonadotropic Ovarian Failure, X-Linked

Pof

Primary Ovarian Insufficiency, Fragile X-Associated

Primary Ovarian Insufficiency 1

Ovarian Failure Premature

Premature Ovarian Failure, X-Linked

Fragile X Premature Ovarian Failure

Fmr1-Related Premature Ovarian Failure

Familial Premature Ovarian Failure

Idiopathic Familial Premature Ovarian Failure

Fxpoi

X-Linked Hypergonadotropic Ovarian Failure

Hypergonadotropic Ovarian Failure X-Linked

Poi

Premature Ovarian Failure X-Linked

Primary Ovarian Insufficiency

Premature Ovarian Failure-1

Ovarian Failure, Premature, Type 1

Premature Ovarian Failure, Familial

Premature Menopause

Primary Hypogonadism

Turner Syndrome
Amenorrhea

Absence Of Menstruation

Amenia
Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome
46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian
Galactosemia I

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
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
Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

BPES

Blepharophimosis Syndrome

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Bpes With Duane Retraction Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

Bpes Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

3q23 Microdeletion Syndrome

Bpes Plus

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

Bpes Type 1

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

Blepharophimosis, Ptosis, Epicanthus Inversus

Autosomal Dominant Bpes Type I

Autosomal Recessive Bpes Type I

Bpes Type I

Bpes Type Ii

Bpes Without Ovarian Failure

Bpes With Ovarian Failure

Blepharophimosis Syndrome Type 1

Blepharophimosis Syndrome Type 2
Anovulation
Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05358 GDF9 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus GDF9 VGNC VGNC:62505
Macaca mulatta GDF9 VGNC VGNC:110462
Mus musculus GDF9 MGD MGI:95692
Rattus norvegicus GDF9 RGD RGD:71038
Canis familiaris GDF9 VGNC VGNC:41164
Bos taurus GDF9 VGNC VGNC:29306
Others GDF9 NCBI
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