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GeneE
3 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.
STPG1
sperm tail PG-rich repeat containing 1
Chromosome 1 Β· 1p36.11
NCBI Gene: 90529Ensembl: ENSG00000001460.19HGNC: HGNC:28070UniProt: Q5TH74
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of apoptotic processpositive regulation of mitochondrial membrane permeability involved in apoptotic processnucleuscytoplasmprostate carcinomavan der Woude syndromehair colorcutaneous melanoma
✦AI Summary

STPG1 (sperm tail PG-rich repeat containing 1) is a gene with emerging roles in apoptotic regulation and immune-mediated tumor suppression. According to UniProt annotations and GO terms, STPG1 positively contributes to apoptosis induction, particularly through promotion of mitochondrial membrane permeability changes [UniProt]. In gastric cancer, STPG1 functions downstream of the transcription factor ThPOK, which directly binds the STPG1 promoter to upregulate its expression 1. Mechanistically, STPG1 upregulation suppresses gastric cancer cell viability and promotes T cell activation by inactivating the ERK signaling pathway 1. This suggests STPG1 acts as a tumor suppressor by inhibiting cancer cell immune escape. Clinically, STPG1 expression is downregulated in gastric cancer tissues and cells, correlating with reduced immunogenicity 1. The gene has also been identified as a novel fusion partner with KMT2A in rare acute myeloid leukemia cases 2, indicating potential oncogenic roles in specific translocation contexts. While STPG1 disruption by chr1 translocation has been observed in familial balanced translocation carriers, no clear pathogenic correlation was established 3. Overall, STPG1 represents a multifunctional regulator linking apoptosis, immune activation, and potential cancer suppression.

Sources cited
1
ThPOK transcriptionally activates STPG1; STPG1 upregulation suppresses gastric cancer viability and enhances T cell activation by inactivating ERK pathway
PMID: 35379170
2
STPG1 was disrupted by chromosomal translocation breakpoints in familial balanced translocation carriers but no phenotypic associations were established
PMID: 28072833
3
STPG1 identified as a novel KMT2A fusion partner in acute myeloid leukemia
PMID: 40706988
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
prostate carcinomaOpen Targets
0.25Weak
van der Woude syndromeOpen Targets
0.17Weak
hair colorOpen Targets
0.09Suggestive
cutaneous melanomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.07Suggestive
dyspepsiaOpen Targets
0.04Suggestive
Abnormality of the integumentOpen Targets
0.04Suggestive
cleft palateOpen Targets
0.04Suggestive
pyelonephritisOpen Targets
0.03Suggestive
nervous system diseaseOpen Targets
0.03Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PNMA2Shared pathway100%PHLDA1Shared pathway100%PNMA3Shared pathway100%CSRNP3Shared pathway100%BLIDShared pathway100%C3orf38Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Heart
58%
Ovary
58%
Lung
40%
Liver
25%
Gene Interaction Network
Click a node to explore
STPG1PNMA2PHLDA1PNMA3CSRNP3BLIDC3orf38
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5TH74
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.56–1.09]
RankingsWhere STPG1 stands among ~20K protein-coding genes
  • #17,961of 20,598
    Most Researched7
  • #11,092of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedSTPG1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
PMID: 28072833
PLoS One Β· 2017
1.00
2
ThPOK inhibits the immune escape of gastric cancer cells by inducing STPG1 to inactivate the ERK pathway.
PMID: 35379170
BMC Immunol Β· 2022
0.67
3
A Systematic, Evidence-Based Workflow for Classifying KMT2A Fusions in Acute Myeloid Leukemia.
PMID: 40706988
J Mol Diagn Β· 2025
0.33