GSC2 (Goosecoid Homeobox 2)
A homeobox transcription factor involved in craniofacial and cardiac development
Gene Information Card
| Symbol | GSC2 |
|---|---|
| Full Name | Goosecoid Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 170463 ncbi.nlm.nih.gov/gene/170463 |
| Ensembl ID | ENSG00000100253 |
| UniProt ID | O15478 |
| OMIM ID | 601799 |
| HGNC ID | 4613 |
| Aliases | GSCL, goosecoid-like |
Description
GSC2 (Goosecoid Homeobox 2) encodes a homeobox-containing transcription factor that plays a critical role in early embryonic development, particularly in craniofacial and cardiac morphogenesis. It is located within the 22q11.2 region commonly deleted in DiGeorge syndrome (22q11.2 deletion syndrome). The protein functions as a transcriptional repressor and is involved in the regulation of cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 22q11.2 deletion syndrome (DiGeorge syndrome) | Haploinsufficiency of GSC2 due to deletion contributes to craniofacial and cardiac defects | ClinVar, OMIM |
| Tetralogy of Fallot | Reduced GSC2 expression disrupts cardiac outflow tract development | NCBI Gene, PubMed |
| Cleft palate | GSC2 loss-of-function impairs palatal fusion during embryogenesis | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.8 | Low |
| Brain | 0.5 | Low |
| Lung | 0.3 | Low |
| Kidney | 0.2 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.6 | Low expression |
| HeLa | 0.4 | Low expression |
| K562 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Likely loss of function |
| c.100C>T (p.Arg34*) | nonsense | Rare | Loss of function |
| Whole gene deletion | copy number loss | Common in 22q11.2 deletion | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported for GSC2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome R-HSA-1266738)
• Transcriptional regulation by homeobox proteins (Reactome R-HSA-5619507)
Protein Summary
GSC2 is a 257-amino acid homeobox transcription factor localized to the nucleus. It contains a conserved homeodomain that mediates sequence-specific DNA binding. The protein acts primarily as a transcriptional repressor, regulating genes involved in craniofacial and cardiac development. Expression is highest during early embryogenesis and declines postnatally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| GSC2 Knockout A-549 Cell Line | EDJ-KQ61921 | Human | 2928 | Details Get a Quote |
| GSC2 Knockout HCT 116 Cell Line | EDJ-KQ70400 | Human | 2928 | Details Get a Quote |
