InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDF3

Summary

InnateDB Protein

IDBP-16432.5

Last Modified

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

Gene Symbol

GDF3

Protein Name

growth differentiation factor 3

Synonyms

KFS3; MCOP7; MCOPCB6;

Species

Homo sapiens

Ensembl Protein

ENSP00000331745

InnateDB Gene

IDBG-16430 (GDF3)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: 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. {ECO:0000269PubMed:19864492}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: 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. 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). {ECO:0000269PubMed:19864492}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: 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:19864492}. 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 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005125	cytokine activity
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0019901	protein kinase binding

Biological Process

GO:0001501	skeletal system development
GO:0001654	eye development
GO:0001701	in utero embryonic development
GO:0002021	response to dietary excess
GO:0007165	signal transduction
GO:0007492	endoderm development
GO:0007498	mesoderm development
GO:0010453	regulation of cell fate commitment
GO:0030514	negative regulation of BMP signaling pathway
GO:0030903	notochord development
GO:0032525	somite rostral/caudal axis specification
GO:0040007	growth
GO:0045605	negative regulation of epidermal cell differentiation
GO:0048859	formation of anatomical boundary
GO:0090009	primitive streak formation

Cellular Component

GO:0005615	extracellular space
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001111 Transforming growth factor-beta, N-terminal
IPR001839 Transforming growth factor-beta, C-terminal
IPR002405 Inhibin, alpha subunit
IPR029034 Cystine-knot cytokine

PFAM

PF00688
PF00019

PRINTS

PR00669

PIRSF

SMART

SM00204

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt