InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GSC

Summary

InnateDB Protein

IDBP-18498.5

Last Modified

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

Gene Symbol

GSC

Protein Name

goosecoid homeobox

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000238558

InnateDB Gene

IDBG-18496 (GSC)

Protein Structure

UniProt Annotation

Function

Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals. {ECO:0000250, ECO:0000269PubMed:24290375}.

Subcellular Localization

Nucleus.

Disease Associations

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. {ECO:0000269PubMed:24290375}. 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 4 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001085	RNA polymerase II transcription factor binding
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0007369	gastrulation
GO:0009653	anatomical structure morphogenesis
GO:0014036	neural crest cell fate specification
GO:0021904	dorsal/ventral neural tube patterning
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030178	negative regulation of Wnt signaling pathway
GO:0030900	forebrain development
GO:0042474	middle ear morphogenesis
GO:0043583	ear development
GO:0048644	muscle organ morphogenesis
GO:0048704	embryonic skeletal system morphogenesis