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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GSC
goosecoid homeobox
Chromosome 14 Β· 14q32.13
NCBI Gene: 145258Ensembl: ENSG00000133937.5HGNC: HGNC:4612UniProt: P56915
30PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmnuclear speckneural crest cell fate specificationsequence-specific double-stranded DNA bindingshort stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeneurodegenerative diseaseandrogenetic alopeciasmoking initiation
✦AI Summary

Unable to provide a gene function summary for GSC (goosecoid homeobox) based on the provided PubMed abstracts. All seven abstracts discuss GSC as an acronym for 'glioma stem cells' or 'glioblastoma stem cells' in the context of brain tumor biology, not the goosecoid homeobox gene. The abstracts examine various molecular pathways in glioblastoma stem cells, including CLOCK-mediated immunosuppression 1, IGFBP5-ROR1 signaling in invasion 2, TAM-derived TGFBI in stemness maintenance 3, hypoxia-responsive LUCAT1 function 4, SUV39H1-mediated chr14 regulation 5, POSTN in GSC-microglia crosstalk 6, GPNMB-mediated bidirectional interactions 7, and YAP/TAZ as stemness regulators 8. None of these sources address the developmental or homeotic functions of the GSC homeobox gene, its role in embryogenesis, middle ear development, neural crest specification, or its association with skeletal abnormalities and auditory canal atresia as described in the NCBI and UniProt summaries. To provide an accurate gene function summary grounded in the provided literature, PubMed abstracts specifically discussing the goosecoid homeobox gene would be required.

Sources cited
1
Studies glioma stem cells (GSC) and CLOCK-mediated tumor immunity, not goosecoid homeobox gene function
PMID: 31919052
2
Examines glioblastoma stem cells (GSC) and IGFBP5-ROR1 signaling, not goosecoid homeobox gene
PMID: 36949068
3
Investigates glioma stem cells (GSC) and TAM-derived TGFBI, not goosecoid homeobox gene
PMID: 35673564
4
Studies glioma stem-like cells (GSCs) and LUCAT1 under hypoxia, not goosecoid homeobox gene
PMID: 38456228
5
Analyzes GBM stem cells (GSCs) and SUV39H1 chromatin regulation, not goosecoid homeobox gene
PMID: 40059829
6
Investigates glioblastoma stem cells (GSC) and POSTN function, not goosecoid homeobox gene
PMID: 39227950
7
Examines GBM stem cells (GSCs) and GPNMB-mediated interactions, not goosecoid homeobox gene
PMID: 40626360
8
Studies GBM stem-like cells (GSCs) and YAP/TAZ regulation, not goosecoid homeobox gene
PMID: 33644767
Disease Associationsβ“˜21
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
androgenetic alopeciaOpen Targets
0.32Weak
smoking initiationOpen Targets
0.31Weak
hypertrophic cardiomyopathyOpen Targets
0.27Weak
cleft palateOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
cleft lipOpen Targets
0.26Weak
preeclampsiaOpen Targets
0.23Weak
Inguinal herniaOpen Targets
0.19Weak
alopeciaOpen Targets
0.14Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
central nervous system cancerOpen Targets
0.06Suggestive
mandibulofacial dysostosis-microcephaly syndromeOpen Targets
0.06Suggestive
cleidocranial dysplasia 1Open Targets
0.06Suggestive
thoracomelic dysplasiaOpen Targets
0.05Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.05Suggestive
kyphomelic dysplasiaOpen Targets
0.05Suggestive
thoracic dysostosis, isolatedOpen Targets
0.05Suggestive
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalitiesUniProt
Pathogenic Variants3
NM_173849.3(GSC):c.196_212del (p.Gly66fs)Pathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
β˜†β˜†β˜†β˜†2013β†’ Residue 66
NM_173849.3(GSC):c.400C>T (p.Gln134Ter)Pathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
β˜†β˜†β˜†β˜†2013β†’ Residue 134
NM_173849.3(GSC):c.355+1G>CPathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
β˜†β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
TEKT2Protein interaction95%RRP15Protein interaction95%SUPT6HProtein interaction95%ZNF330Protein interaction95%PSME3IP1Protein interaction95%WDR26Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Ovary
67%
Lung
33%
Brain
17%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GSCTEKT2RRP15SUPT6HZNF330PSME3IP1WDR26
PROTEIN STRUCTURE
Preparing viewer…
PDB2DMU Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.57–1.40]
RankingsWhere GSC stands among ~20K protein-coding genes
  • #11,932of 20,598
    Most Researched30
  • #4,116of 5,498
    Most Pathogenic Variants3
  • #14,485of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedGSC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Circadian Regulator CLOCK Recruits Immune-Suppressive Microglia into the GBM Tumor Microenvironment.
PMID: 31919052
Cancer Discov Β· 2020
1.00
2
IGFBP5 is an ROR1 ligand promoting glioblastoma invasion via ROR1/HER2-CREB signaling axis.
PMID: 36949068
Nat Commun Β· 2023
0.90
3
TGFBI secreted by tumor-associated macrophages promotes glioblastoma stem cell-driven tumor growth via integrin Ξ±vΞ²5-Src-Stat3 signaling.
PMID: 35673564
Theranostics Β· 2022
0.80
4
Long non-coding RNA lung cancer-associated transcript-1 promotes glioblastoma progression by enhancing Hypoxia-inducible factor 1 alpha activity.
PMID: 38456228
Neuro Oncol Β· 2024
0.70
5
SUV39H1 maintains cancer stem cell chromatin state and properties in glioblastoma.
PMID: 40059829
JCI Insight Β· 2025
0.60