Aliases for GSC2 Gene
External Ids for GSC2 Gene
Previous HGNC Symbols for GSC2 Gene
Previous GeneCards Identifiers for GSC2 Gene
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]
GeneCards Summary for GSC2 Gene
GSC2 (Goosecoid Homeobox 2) is a Protein Coding gene. Diseases associated with GSC2 include digeorge syndrome and velocardiofacial syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is PITX3.
UniProtKB/Swiss-Prot for GSC2 Gene
May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.