GDF3 - growth differentiation factor 3 Gene

Also Known as KFS3; MCOP7; MCOPCB6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9573

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein kinase binding	IPI IPI: Inferred from physical interaction	21805089	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	19864492	GOA
involved in negative regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	18823971	GOA
involved in negative regulation of epidermal cell differentiation	IDA IDA: Inferred from direct assay	18823971	GOA
involved in regulation of cell fate commitment	IDA IDA: Inferred from direct assay	18823971	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	19864492	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21805089	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDF3 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
364 a.a.

Protein Preferred Names	Protein Names
growth/differentiation factor 3

GDF3 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82220	GDF3 Antibody (YA1965)	WB	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05354	GDF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20739	Gdf3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27251	Gdf3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GDF3	NCBI