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Protein Page:
GDF6 (human)

GDF6 Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1). 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. Deafness is a well- known feature of KFS and may be of sensorineural, conductive, or mixed type. A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4). 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: Secreted, signal peptide; Cell development/differentiation; Secreted; Cytokine
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: extracellular space
Molecular Function: protein homodimerization activity; growth factor activity; cytokine activity; transforming growth factor beta receptor binding
Biological Process: regulation of apoptosis; BMP signaling pathway; apoptosis; regulation of MAPKKK cascade; positive regulation of transcription, DNA-dependent; activin receptor signaling pathway; positive regulation of neuron differentiation; cell development; growth
Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Microphthalmia, Isolated 4; Leber Congenital Amaurosis 17; Microphthalmia, Isolated, With Coloboma 6
Reference #:  Q6KF10 (UniProtKB)
Gene Symbols: GDF6
Molecular weight: 50,662 Da
Basal Isoelectric point: 9.1  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


LTP: 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.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


0 1 - under review  
0 1 - under review  

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