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goosecoid homeobox OKDB#: 1253
 Symbols: GSC Species: human
 Synonyms: SAMS  Locus: 14q32.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment 'Goosecoid' was cloned from a cDNA library constructed from isolated dorsal lip tissue of Xenopus laevis gastrula stage embryos (Blumberg et al., 1991). It encodes a homeodomain transcription factor with DNA binding specificity identical to that of the anterior morphogen 'bicoid' in Drosophila. /////////Interacts with Foxl2 in yeast two-hybrid screening.

NCBI Summary: This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
General function DNA binding, Transcription factor
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Primordial Germ Cell
Comment Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons. Galili N et al. Gscl, a paired-type homeobox gene, has been implicated in the pathology of DGS/VCFS by virtue of its genomic location and its structural similarity to the Gsc gene family. Immunohistochemical and in situ studies were performed to examine the expression pattern of this gene during embryonic development. A polyclonal antibody, generated to the full-length protein and shown to be specific for GSCL by both Western blotting and immunofluorescence, was used for immunohistochemical localization. Both in situ and antibody staining localized GSCL expression to a cluster of cells in the pons region of the developing brain. This GSCL expression pattern showed partial overlap with that of Pax6. More detailed immunohistochemistry revealed the GSCL in primordial germ cells during migration from the epithelium of the hindgut and later as they colonize the developing gonads. GSCL was not detected in tissues affected in DGS/VCSF.
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: embryonic lethal
Comment: Yamada et al. (1995) generated mice deficient in the goosecoid gene by targeted disruption. Mice that are homozygous mutants do not display a gastrulation phenotype and are born; however, they do not survive more than 24 hours. Analysis of the homozygotes revealed numerous developmental defects affecting those structures in which goosecoid is expressed during its second (late) phase of embryonic expression. Predominantly these defects involve the lower mandible and its associated musculature, including the tongue, the nasal cavity, and the nasal pits, as well as components of the inner ear and the external auditory meatus.

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
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created: Aug. 8, 2001, 9:26 a.m. by: hsueh   email:
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last update: Nov. 19, 2015, 10:43 a.m. by: hsueh    email:



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