HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 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.
PRF1
perforin 1
Chromosome 10 Β· 10q22.1
NCBI Gene: 5551Ensembl: ENSG00000180644.9HGNC: HGNC:9360UniProt: P14222
233PubMed Papers
21Diseases
0Drugs
145Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein transmembrane transportpositive regulation of killing of cells of another organismprotein homooligomerizationcytolytic granuleFamilial hemophagocytic lymphohistiocytosisaplastic anemialymphoma, non-Hodgkin, familiallymphoma
✦AI Summary

PRF1 encodes perforin 1, a pore-forming cytotoxic protein essential for immune-mediated cell death. PRF1 functions by inserting into target cell membranes in its calcium-bound form, oligomerizing to create large pores that facilitate the delivery of cytotoxic granzymes into target cells 12. This mechanism enables CD8+ T cells and natural killer cells to induce apoptosis in virus-infected, neoplastic, and allogeneic cells 34. PRF1 selectively delivers cationic cargo proteins while excluding anionic or neutral proteins, demonstrating substrate selectivity 4. PRF1 mutations cause familial hemophagocytic lymphohistiocytosis (fHLH), a life-threatening hyperinflammatory syndrome characterized by unremitting fever, cytopenias, and hepatosplenomegaly 5. In a large cohort of 1892 HLH patients, PRF1 mutations were the most frequent pathogenic variants identified 6. Beyond classical immunodeficiency, emerging evidence demonstrates that perforin production by CD8+ T cells drives intestinal epithelial CXCL9 production, which promotes neuroinflammation and depression in inflammatory bowel disease patients 7. Additionally, PRF1 expression marks cytotoxic CD4+ T cells (exTreg cells) in atherosclerosis and serves as a component of cytolytic T-lymphocyte transcriptomic signatures prognostic for survival in gastric cancer 89. These findings establish PRF1 as central to both protective immunity against pathogens and tumors and to pathological inflammation in multiple disease contexts.

Sources cited
1
PRF1 is a pore-forming protein that inserts into target cell membranes and forms large pores
PMID: 20889983
2
PRF1 oligomerizes in its calcium-bound form to create membrane pores
PMID: 21037563
3
PRF1 mediates granzyme-mediated cytolysis and apoptosis of target cells
PMID: 20038786
4
PRF1 selectively facilitates delivery of cationic cargo proteins while not delivering anionic or neutral proteins efficiently
PMID: 24558045
5
PRF1 mutations cause familial hemophagocytic lymphohistiocytosis with severe systemic hyperinflammation
PMID: 32107531
6
PRF1 pathogenic variants were the most frequent among HLH-associated genes in 1892 patients
PMID: 32542393
7
Perforin from CD8+ T cells stimulates CXCL9 expression in colonic epithelial cells, leading to neuroinflammation and depression in IBD
PMID: 40120774
8
PRF1 is a marker gene of cytotoxic CD4+ T cells (exTreg cells) in atherosclerosis
PMID: 37563308
9
PRF1 is a component of cytolytic T-lymphocyte transcriptomic signature prognostic for survival in gastric cancer
PMID: 38612926
Disease Associationsβ“˜21
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.83Strong
aplastic anemiaOpen Targets
0.67Moderate
lymphoma, non-Hodgkin, familialOpen Targets
0.65Moderate
lymphomaOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.52Moderate
autoinflammatory syndromeOpen Targets
0.52Moderate
lymphoid neoplasmOpen Targets
0.48Moderate
lymphoid leukemiaOpen Targets
0.46Moderate
hereditary hemophagocytic lymphohistiocytosisOpen Targets
0.38Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
fatal post-viral neurodegenerative disorderOpen Targets
0.37Weak
gastric adenocarcinomaOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
familial hemophagocytic lymphohistiocytosis type 1Open Targets
0.35Weak
male reproductive organ cancerOpen Targets
0.33Weak
Hemophagocytic lymphohistiocytosis, familial, 2UniProt
Pathogenic Variants145
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 150
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Aplastic anemia|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial
β˜…β˜…β˜†β˜†2026β†’ Residue 450
NM_001083116.3(PRF1):c.50del (p.Leu17fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Familial hemophagocytic lymphohistiocytosis|Autoinflammatory syndrome|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial|Aplastic anemia|PRF1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 17
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 361
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 491
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Autoinflammatory syndrome|Inborn genetic diseases|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 374
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)Pathogenic
Inborn genetic diseases|Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|not provided|Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia|Familial hemophagocytic lymphohistiocytosis
β˜…β˜…β˜†β˜†2026β†’ Residue 149
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)Pathogenic
Familial hemophagocytic lymphohistiocytosis|Aplastic anemia|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial|Familial hemophagocytic lymphohistiocytosis 2
β˜…β˜…β˜†β˜†2026β†’ Residue 220
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Inborn genetic diseases|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia;Lymphoma, non-Hodgkin, familial
β˜…β˜…β˜†β˜†2026β†’ Residue 285
NM_001083116.3(PRF1):c.496C>T (p.Gln166Ter)Pathogenic
PRF1-related disorder|Familial hemophagocytic lymphohistiocytosis 2
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_001083116.3(PRF1):c.1314T>A (p.Tyr438Ter)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2
β˜…β˜…β˜†β˜†2025β†’ Residue 438
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis
β˜…β˜…β˜†β˜†2025β†’ Residue 317
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 410
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 261
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia;Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 222
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis|Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia;Lymphoma, non-Hodgkin, familial
β˜…β˜…β˜†β˜†2025β†’ Residue 54
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_001083116.3(PRF1):c.150del (p.Thr51fs)Pathogenic
not provided|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|not provided|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 313
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)Pathogenic
Aplastic anemia|Familial hemophagocytic lymphohistiocytosis
β˜…β˜…β˜†β˜†2025β†’ Residue 314
View on ClinVar β†—
Related Genes
FOXP3Protein interaction98%IL10Protein interaction98%CD28Protein interaction97%TNFProtein interaction97%SRGNProtein interaction96%KIR3DL1Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Liver
27%
Bone Marrow
22%
Heart
9%
Brain
4%
Ovary
2%
Gene Interaction Network
Click a node to explore
PRF1FOXP3IL10CD28TNFSRGNKIR3DL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P14222
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.44LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.55–1.44]
RankingsWhere PRF1 stands among ~20K protein-coding genes
  • #1,715of 20,598
    Most Researched233 Β· top 10%
  • #523of 5,498
    Most Pathogenic Variants145 Β· top 10%
  • #14,767of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedPRF1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Pediatric hemophagocytic lymphohistiocytosis.
PMID: 32107531
Blood Β· 2020
1.00
2
A single-cell map of intratumoral changes during anti-PD1 treatment of patients with breast cancer.
PMID: 33958794
Nat Med Β· 2021
0.90
3
Haemophagocytic lymphohistiocytosis and Epstein-Barr virus: a complex relationship with diverse origins, expression and outcomes.
PMID: 34169507
Br J Haematol Β· 2022
0.80
4
Perforin Generated by CD8
PMID: 40120774
Gastroenterology Β· 2025
0.70
5
Perforin gene PRF1 c.900C> T polymorphism and HIV-1 vertical transmission.
PMID: 31188937
Genet Mol Biol Β· 2019
0.64