GDF3 - growth differentiation factor 3 Gene

中文名称：生长分化因子 3

种属: Homo sapiens

同用名: KFS3; MCOP7; MCOPCB6

基因 ID: 9573 | 基因类型: protein coding

关于 GDF3

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,689,784-7,695,775 (from NCBI)

This gene has 1 transcript (splice variant), 88 orthologues, 31 paralogues and is associated with 8 phenotypes. Low expression observed in reference dataset.

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。这种蛋白质在眼睛和骨骼发育中起作用。该基因的突变与人类患者的小眼病、缺损和骨骼异常有关。[RefSeq 提供，2016 年 8 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 plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]

GDF3 基因产物(1)

mRNA	Protein	Name
NM_020634.3	NP_065685.1	growth/differentiation factor 3 preproprotein

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 protein kinase binding	IPI IPI: 通过物理相互作用推断	21805089	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in eye development	IMP IMP: 通过突变表型推断	19864492	GOA
involved in negative regulation of BMP signaling pathway	IDA IDA: 通过直接分析推断	18823971	GOA
involved in negative regulation of epidermal cell differentiation	IDA IDA: 通过直接分析推断	18823971	GOA
involved in regulation of cell fate commitment	IDA IDA: 通过直接分析推断	18823971	GOA
involved in skeletal system development	IMP IMP: 通过突变表型推断	19864492	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	21805089	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

GDF3 蛋白结构

TGFb_propeptide

TGF_beta

0
100
200
300
364 a.a.

蛋白主名

其他名称

growth/differentiation factor 3

GDF3 抗体

目录号	产品名	应用	反应物种
HY-P82220	GDF3 Antibody (YA1965)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

Microphthalmia, Isolated, With Coloboma 6

MCOPCB6	Microphthalmia With Coloboma 6, Digenic
Microphthalmia, Isolated, With Coloboma, 6	Isolated Colobomatous Microphthalmia 6
Microphthalmia, Isolated, With Coloboma, Type 6

Microphthalmia, Isolated 7

MCOP7	Isolated Microphthalmia 7
Microphthalmia, Isolated, 7	Microphthalmia, Isolated, Type 7

Klippel-Feil Syndrome 3, Autosomal Dominant

KFS3	Klippel-Feil Syndrome, Type 3, Autosomal Dominant

Isolated Klippel-Feil Syndrome

Congenital Cervical Vertebral Fusion	Congenital Fused Cervical Segments
Klippel-Feil Malformation	Klippel-Feil Sequence

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Embryonal Carcinoma

Embryonal Neoplasm	Embryonal Cancer
Primary Extragonadal Embryonal Carcinoma	Embryo Neoplasm
Carcinoma Embryonal	Cancer Embryonal
Carcinoma, Embryonal	Extragonadal Embryonal Carcinoma
Cancer, Embryonal

Klippel-Feil Syndrome 3

Klippel-Feil Syndrome

Cervical Vertebral Fusion	Congenital Dystrophia Brevicollis
Cervical Fusion Syndrome	Klippel-Feil Deformity
Autosomal Dominant Klippel-Feil Syndrome	Congenital Synostosis Of Cervical Vertebrae
Klippel-Feil And Turner Syndrome	Klippel-Feil Deformity, Deafness And Facial Asymmetry
Klippel Feil Syndrome	Cervical Vertebral Fusion Syndrome
Dystrophia Brevicollis Congenita	Fusion Of Cervical Vertebrae
Kfs	Klippel-Feil Sequence
Vertebral Cervical Fusion Syndrome	Klippel-Feil Syndrome, Autosomal Dominant
Klippel-Feil Malformation	Isolated Klippel-Feil Syndrome

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Childhood Endodermal Sinus Tumor

Childhood Endodermal Sinus Neoplasm	Childhood Endodermal Sinus Tumour
Paediatric Yolk Sac Tumour	Pediatric Yolk Sac Tumor
Childhood Yolk Sac Tumor

Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Spina Bifida Occulta

Scoliosis

Syringomyelia

Hydromyelia

Germ Cell Cancer

Malignant Germ Cell Tumor	Neoplasms, Germ Cell And Embryonal
Germ Cell Neoplasm	Germ Cell Tumour
Malignant Tumor Of The Germ Cell	Neoplasms Germ Cell
Malignant Germ Cell Neoplasm

Mixed Germ Cell Cancer

Mixed Germ Cell Tumor	Mixed Germ Cell Neoplasm
Mixed Germ Cell Tumour	Mixed Teratoma And Seminoma

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Testicular Germ Cell Cancer

Germ Cell Tumor Of Testis	Testicular Germ Cell Tumor
Testicular Germ Cell Neoplasm	Testicular Malignant Germ Cell Tumor

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05354	GDF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20739	Gdf3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27251	Gdf3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	GDF3	MGD	MGI:95686
Felis catus	GDF3	VGNC	VGNC:62504
Macaca mulatta	GDF3	VGNC	VGNC:108344
Rattus norvegicus	GDF3	RGD	RGD:1564178
Canis familiaris	GDF3	VGNC	VGNC:41162

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GDF3 - growth differentiation factor 3 Gene

关于 GDF3

功能概要

GDF3 基因产物(1)

GDF3 蛋白结构

GDF3 抗体

关联疾病

直系同源

热门区域

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GDF3 - growth differentiation factor 3 Gene

关于 GDF3

功能概要

GDF3 基因产物(1)

GDF3 蛋白结构

GDF3 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z