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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GSC2
goosecoid homeobox 2
Chromosome 22 · 22q11.21
NCBI Gene: 2928Ensembl: ENSG00000063515.3HGNC: HGNC:4613UniProt: O15499
12PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of transcription by RNA polymerase IIDNA-binding transcription factor activityprotein bindingsequence-specific DNA bindingsystemic sclerodermaArthropathyalcohol drinkingcoronary artery calcification
✦AI Summary

GSC2 (goosecoid homeobox 2) is a DNA-binding transcription factor located on chromosome 22.2 that functions in developmental regulation. As a sequence-specific DNA-binding protein, GSC2 likely regulates transcription through RNA polymerase II and may bind the bicoid consensus sequence TAATCC, with evidence suggesting it can regulate its own transcription 1. GSC2 is responsive to cellular stress responses; specifically, it is induced downstream of Ca2+ signaling through Crz1 transcription factor activation during arsenic stress in eukaryotic cells, with PMR1, PMC1, and GSC2 representing endogenous targets of this pathway 2. Clinically, GSC2 is implicated in oculo-auriculo-vertebral spectrum (OAVS/hemifacial microsomia), a congenital condition affecting first and second pharyngeal arch development. A systematic review identified GSC2 as a candidate gene for OAVS in the 22q11.2 region, alongside other genes including TBX1 and HIRA, though no single gene has been confirmed as causative 1. The gene's involvement in early embryonic development is underscored by its identification as a novel goosecoid-like homeobox gene in syntenic mouse chromosome 22 regions corresponding to DiGeorge/velocardiofacial syndrome loci 3. Further research into gene interactions within the 22q11 region is necessary to establish definitive genotype-phenotype correlations.

Sources cited
1
GSC2 is a candidate gene for oculo-auriculo-vertebral spectrum in the 22q11.2 region; deletions and duplications in this region are associated with OAVS development
PMID: 32893956
2
GSC2 is an endogenous target gene induced by Crz1 transcription factor activation in response to arsenic-induced Ca2+ signaling stress responses
PMID: 22745270
3
GSC2 (Gscl in mouse) is a goosecoid-like homeobox gene located in a region syntenic between mouse chromosome 16 and human 22q11.2, transcribed in early embryonic development
PMID: 9037598
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ11
systemic sclerodermaOpen Targets
0.09Suggestive
ArthropathyOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
coronary artery calcificationOpen Targets
0.03Suggestive
22q11.2 deletion syndromeOpen Targets
0.03Suggestive
Down syndromeOpen Targets
0.01Suggestive
gliomaOpen Targets
0.00Suggestive
learning disabilityOpen Targets
0.00Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CST6Shared pathway100%LBX1Shared pathway100%SCML2Shared pathway100%HOXC13Shared pathway100%GNB1LProtein interaction81%SLC25A1Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GSC2CST6LBX1SCML2HOXC13GNB1LSLC25A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O15499
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.35 [0.81–1.90]
RankingsWhere GSC2 stands among ~20K protein-coding genes
  • #16,470of 20,598
    Most Researched12
  • #17,269of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedGSC2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
PMID: 32893956
Am J Med Genet A · 2020
1.00
2
Arsenic stress elicits cytosolic Ca(2+) bursts and Crz1 activation in Saccharomyces cerevisiae.
PMID: 22745270
Microbiology (Reading) · 2012
0.83
3
Mpk1 MAPK association with the Paf1 complex blocks Sen1-mediated premature transcription termination.
PMID: 21376235
Cell · 2011
0.67
4
Yeast Mpk1 mitogen-activated protein kinase activates transcription through Swi4/Swi6 by a noncatalytic mechanism that requires upstream signal.
PMID: 18268013
Mol Cell Biol · 2008
0.50
5
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
PMID: 9037598
Genome Res · 1997
0.33