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Gene : GSC2 Homo sapiens

Name  ? goosecoid homeobox 2 Cytological Location  22q11.21
Brief Description  goosecoid homeobox 2
description  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]
  • synonyms:
  • GSCL,
  • HGNC:4613,
  • goosecoid-like,
  • GSCL,
  • OTTHUMG00000150122,
  • NM_005315,
  • uc011ags.3,
  • GSC2
  • identifiers:
  • 2928,
  • ENSG00000063515,
  • GSC2

Genome feature

Region: gene ? Length: 1293  
Location: 22:19148991-19150283 reverse strand Cyto location: 22q11.21


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Function

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Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

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4 Cross References

13 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results