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Protein Page:
GDF3 (human)

Overview
GDF3 Defects in GDF3 are the cause of Klippel-Feil syndrome type 3 (KFS3); also called Klippel-Feil syndrome autosomal dominant 3. KFS3 is a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Defects in GDF3 are the cause of microphthalmia isolated with coloboma type 6 (MCOPCB6); also called isolated colobomatous microphthalmia 6. MCOPCB6 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Defects in GDF3 are a cause of microphthalmia isolated type 7 (MCOP7). MCOP7 is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Belongs to the TGF-beta family. Note: This description may include information from UniProtKB.
Protein type: Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 12p13.1
Cellular Component: cytoplasm; extracellular space
Molecular Function: cytokine activity; protein kinase binding; transforming growth factor beta receptor binding
Biological Process: cell development; eye development; negative regulation of BMP signaling pathway; negative regulation of epidermal cell differentiation; regulation of apoptosis; regulation of cell fate commitment; regulation of MAPKKK cascade; skeletal development
Disease: Klippel-feil Syndrome 3, Autosomal Dominant; Microphthalmia, Isolated 7; Microphthalmia, Isolated, With Coloboma 6
Reference #:  Q9NR23 (UniProtKB)
Alt. Names/Synonyms: gdf 3; gdf-3; gdf3; growth differentiation factor 3; growth/differentiation factor 3
Gene Symbols: GDF3
Molecular weight: 41,387 Da
Basal Isoelectric point: 8.2  Predict pI for various phosphorylation states
Select Structure to View Below

GDF3

Protein Structure Not Found.


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