GSC2

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]

Description

Goosecoid homeobox 2

Tissue specificity

Tissue enhanced (retina, testis)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

22 (19146993 - 19150292)

Ensembl ID

ENSG00000063515  (ver. 103.38)

Orthologs

Mouse Gsc2: ENSMUSG00000022738

UniProt

O15499

neXtProt

NX_O15499

Human splice variants
Mouse splice variants

Protein structure