Version 5.4
Homo sapiens Gene: GSC2
Summary
InnateDB Gene IDBG-1270.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GSC2
Gene Name goosecoid homeobox 2
Synonyms GSCL
Species Homo sapiens
Ensembl Gene ENSG00000063515
Encoded Proteins
IDBP-1272
goosecoid homeobox 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19148576-19150283
Strand Reverse strand
Band q11.21
Transcripts
ENST00000086933 ENSP00000086933
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: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:0006357 regulation of transcription from RNA polymerase II promoter
GO:0009653 anatomical structure morphogenesis
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022738
View Gene Order
ENSBTAG00000047526
Not yet available
Cross-References
SwissProt O15499
TrEMBL
UniProt Splice Variant
Entrez Gene 2928
UniGene Hs.534318
RefSeq NM_005315
HUGO HGNC:4613
OMIM 601845
CCDS CCDS13757
HPRD
IMGT
EMBL U96402
GenPept AAC39544
RNA Seq Atlas 2928

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca