InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDF6

Summary

InnateDB Protein

IDBP-29377.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDF6

Protein Name

growth differentiation factor 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000287020

InnateDB Gene

IDBG-29375 (GDF6)

Protein Structure

UniProt Annotation

Function

Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. 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. May signal through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A. {ECO:0000269PubMed:23307924}.

Subcellular Localization

Secreted {ECO:0000269PubMed:23307924}.

Disease Associations

Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]: 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 feature in some cases and may be of sensorineural, conductive, or mixed type. {ECO:0000269PubMed:18425797, ECO:0000269PubMed:19129173}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3).Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]: 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, and other abnormalities may also be present. {ECO:0000269PubMed:19129173}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 17 (LCA17) [MIM:615360]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:23307924}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005125	cytokine activity
GO:0008083	growth factor activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0006915	apoptotic process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030509	BMP signaling pathway
GO:0032924	activin receptor signaling pathway
GO:0040007	growth
GO:0045666	positive regulation of neuron differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0060389	pathway-restricted SMAD protein phosphorylation
GO:1990009	retinal cell apoptotic process