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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 Cellular Component: extracellular space Molecular Function: growth factor activity; cytokine activity Biological Process: response to dietary excess; eye development; in utero embryonic development; mesoderm development; notochord development; somite rostral/caudal axis specification; signal transduction; skeletal development; formation of anatomical boundary; growth; endoderm development 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

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	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K37	LQFLGLDKAPSPQKF
0	1		T332	PQAVCIPTKLSPISM
0	1		S335	VCIPTKLSPISMLYQ

	mouse
K38-u	LQFLGLEkAPSPHRF
T334-p	PKAVCVPtKLsPISM
S337-p	VCVPtKLsPISMLYQ

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