GSC2

GENE INFORMATION

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Gene name

GSC2 (HGNC Symbol)

Synonyms

GSCL

Description

Goosecoid homeobox 2 (HGNC Symbol)

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]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19136089 - 19137796

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000063515 (version 75.37)

Entrez gene

2928

UniProt

O15499 (UniProt - Evidence at transcript level)

neXtProt

NX_O15499

Antibodypedia

GSC2 antibodies
 

PROTEIN VIEW

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GSC2-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GSC2-001 ENSP00000086933
ENST00000086933
O15499
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