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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCM1
glial cells missing transcription factor 1
Chromosome 6 · 6p12.1
NCBI Gene: 8521Ensembl: ENSG00000137270.11HGNC: HGNC:4197UniProt: Q9NP62
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionpositive regulation of transcription by RNA polymerase IIRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseesophageal ulcerfolate deficiencyfetal growth restriction
✦AI Summary

GCM1 is a transcription factor essential for placental development that acts as a master regulator of trophoblast differentiation 1. It directly activates placenta-specific genes including placental growth factor (PGF) through binding to GCM1-binding sites in gene promoters 2. GCM1 mediates differentiation along both villous and extravillous trophoblast pathways, with its activity antagonized by the stemness factor ΔNp63α; the balance between these factors determines whether trophoblasts remain as stem cells or differentiate 1. GCM1 expression is downregulated under hypoxic conditions (1-2% O₂), characteristic of early placental development, which maintains trophoblast stem cell self-renewal; conversely, GCM1 upregulation is required for syncytiotrophoblast and extravillous trophoblast formation 3. GCM1 regulates critical differentiation genes including CKMT1 and CDKN1C (contact inhibition factor) 13. Clinically, reduced GCM1 expression is associated with preeclampsia and impaired placental development 24. Loss of GCM1 or reduced androgen exposure compromises trophoblast differentiation, contributing to placental dysfunction in conditions like polycystic ovary syndrome 4. These findings establish GCM1 as a central regulatory hub controlling the stemness-differentiation transition in human placental development.

Sources cited
1
GCM1 antagonism with ΔNp63α regulates trophoblast stemness/differentiation balance; GCM1 targets CKMT1 crucial for syncytiotrophoblast differentiation
PMID: 35338152
2
GCM1 downregulation under hypoxia maintains trophoblast stem cell self-renewal; GCM1 required for syncytiotrophoblast and extravillous trophoblast formation; GCM1 regulates CDKN1C for contact inhibition
PMID: 40280139
3
GCM1 upregulates placental growth factor (PGF) expression through binding to GCM1-binding sites; reduced PGF associated with preeclampsia and placental hypoxia
PMID: 29743241
4
Reduced GCM1 expression associated with impaired syncytiotrophoblast and sinusoidal trophoblast giant cell formation; elevated androgens in PCOS downregulate GCM1 compromising trophoblast differentiation
PMID: 39075722
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
esophageal ulcerOpen Targets
0.08Suggestive
folate deficiencyOpen Targets
0.08Suggestive
fetal growth restrictionOpen Targets
0.07Suggestive
neural tube defectOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.04Suggestive
heart diseaseOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
placenta diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
seminomaOpen Targets
0.01Suggestive
hypertension, pregnancy-inducedOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
Granular Cell TumorOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HTRA4Protein interaction76%FBXW2Protein interaction73%GCM2Protein interaction73%ZNF141Shared pathway50%GLIS3Shared pathway33%CCDC124Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Lung
91%
Bone Marrow
77%
Liver
18%
Ovary
9%
Heart
0%
Gene Interaction Network
Click a node to explore
GCM1HTRA4FBXW2GCM2ZNF141GLIS3CCDC124
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NP62
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.13 [0.05–0.40]
RankingsWhere GCM1 stands among ~20K protein-coding genes
  • #8,073of 20,598
    Most Researched56
  • #2,048of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedGCM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional antagonism between ΔNp63α and GCM1 regulates human trophoblast stemness and differentiation.
PMID: 35338152
Nat Commun · 2022
1.00
2
Hypoxia and loss of GCM1 expression prevent differentiation and contact inhibition in human trophoblast stem cells.
PMID: 40280139
Stem Cell Reports · 2025
0.90
3
Hypoxia and loss of
PMID: 39314437
bioRxiv · 2024
0.80
4
Exosomal miR-1a-3p derived from glucocorticoid-stimulated M1 macrophages promotes the adipogenic differentiation of BMSCs in glucocorticoid-associated osteonecrosis of the femoral head by targeting Cebpz.
PMID: 39438865
J Nanobiotechnology · 2024
0.70
5
Dissecting the Impact of Maternal Androgen Exposure on Developmental Programming through Targeting the Androgen Receptor.
PMID: 39075722
Adv Sci (Weinh) · 2024
0.60