GDF3 - growth differentiation factor 3 Gene

Homo sapiens

Also known as KFS3; MCOP7; MCOPCB6

Gene ID: 9573 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

GDF3 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
364 a.a.

Protein Preferred Names

Protein Names

growth/differentiation factor 3

Recombinant GDF3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79195	GDF-3 Protein, Human (CHO)	Q9NR23	≥95%

Related Diseases

Diseases

Alias

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

Diseases	Alias
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS05354	GDF3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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