GSC (Goosecoid Homeobox) Gene
A key transcriptional regulator in embryonic development and craniofacial morphogenesis
Gene Information Card
| Symbol | GSC |
|---|---|
| Full Name | Goosecoid Homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 145258 ncbi.nlm.nih.gov/gene/145258 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P56915 |
| OMIM ID | 138890 |
| HGNC ID | 4612 |
| Aliases | GSC1, goosecoid |
Description
The GSC gene encodes a homeobox-containing transcription factor that plays a critical role in early embryonic development, particularly in the formation of the primitive streak, head process, and craniofacial structures. It is a key regulator of mesoderm and endoderm patterning, and its expression is essential for proper gastrulation and organogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial anomalies (e.g., cleft palate, micrognathia) | Loss-of-function mutations in GSC disrupt homeobox-mediated transcriptional regulation, impairing neural crest cell migration and craniofacial morphogenesis. | Case reports and animal models (OMIM #138890) |
| Short stature and skeletal dysplasia | GSC haploinsufficiency alters downstream target gene expression, affecting chondrogenesis and bone development. | Clinical observations and functional studies (OMIM) |
| Congenital heart defects | GSC expression in cardiac neural crest cells is required for outflow tract septation; mutations lead to structural heart anomalies. | Experimental evidence in mouse models (NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Embryonic tissues (e.g., primitive streak, notochord) | N/A | High (developmental stage-specific) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
| hESC (H1) | 0.0 | Not expressed in undifferentiated cells; induced during differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, predicted loss of function |
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, predicted loss of function |
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported GSC mutations are loss-of-function, leading to haploinsufficiency and craniofacial defects.
Gain of Function (GOF)
No gain-of-function mutations have been documented in GSC.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GSC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-2173791)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913531)
Protein Summary
The goosecoid homeobox protein (UniProt P56915) is a 257-amino acid transcription factor containing a homeodomain that binds DNA and regulates target gene expression. It is transiently expressed during early embryogenesis and is essential for mesoderm formation, craniofacial development, and organ patterning. The protein localizes to the nucleus and interacts with other transcription factors to modulate developmental signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSC Knockout HEK293 Cell Line | EDJ-KQ10433 | Human | 145258 | Details Get a Quote |
| GSC2 Knockout HEK293 Cell Line | EDJ-KQ50319 | Human | 2928 | Details Get a Quote |
| GSC2 Knockout HeLa Cell Line | EDJ-KQ53447 | Human | 2928 | Details Get a Quote |
| GSC Knockout HeLa Cell Line | EDJ-KQ58517 | Human | 145258 | Details Get a Quote |
| GSC2 Knockout A-549 Cell Line | EDJ-KQ61921 | Human | 2928 | Details Get a Quote |
| GSC Knockout A-549 Cell Line | EDJ-KQ67006 | Human | 145258 | Details Get a Quote |
| GSC2 Knockout HCT 116 Cell Line | EDJ-KQ70400 | Human | 2928 | Details Get a Quote |
| GSC Knockout HCT 116 Cell Line | EDJ-KQ75407 | Human | 145258 | Details Get a Quote |
