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GeneE
50 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.
GRN
granulin precursor
Chromosome 17 Β· 17q21.31
NCBI Gene: 2896Ensembl: ENSG00000030582.20HGNC: HGNC:4601UniProt: P28799
611PubMed Papers
22Diseases
0Drugs
132Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endosomenegative regulation of respiratory burst involved in inflammatory responselysosomal membranemembraneGRN-related frontotemporal lobar degeneration with Tdp43 inclusionsneuronal ceroid lipofuscinosis 11CLN11 diseasefrontotemporal dementia
✦AI Summary

GRN encodes progranulin (PGRN), a secreted lysosomal protein with critical roles in cellular homeostasis and neuronal survival. PGRN functions as a pH-dependent interactor with bis(monoacylglycero)phosphate (BMP), an endolysosomal phospholipid that enhances lysosomal proteolysis and lipolysis 1. The protein maintains ganglioside catabolism by supporting BMP levels in lysosomes, with PGRN deficiency leading to ganglioside accumulation 2. PGRN is transported to lysosomes through sortilin receptor-mediated shuttling, where it undergoes cleavage to produce functional granulin polypeptides 3. Beyond lysosomal function, PGRN serves as an immune regulator, particularly in regulatory T cells where it supports bone repair through CCR8+ Treg signaling 4. Heterozygous GRN loss-of-function mutations cause frontotemporal dementia (FTD-GRN) through haploinsufficiency, resulting in TDP-43 inclusions, neuroinflammation, and blood-brain barrier dysfunction 5. FTD-GRN patients exhibit neurovascular dysfunction with perturbed endothelial cells and reduced pericyte coverage 5. Therapeutic approaches targeting PGRN restoration through gene therapy or sortilin inhibition show promise in preclinical and early clinical studies 63. The protein's diverse functions in lysosomal homeostasis, immune regulation, and neuronal survival make it a critical factor in neurodegeneration prevention.

Sources cited
1
PGRN is a pH-dependent interactor with BMP that enhances lysosomal proteolysis and lipolysis
PMID: 34450028
2
PGRN deficiency leads to ganglioside accumulation by reducing BMP levels required for ganglioside catabolism
PMID: 36207292
3
PGRN is shuttled to lysosomes through sortilin receptor and functions as a lysosomal chaperone
PMID: 37322482
4
PGRN secretion by CCR8+ regulatory T cells supports bone repair and SSC osteogenic differentiation
PMID: 39509336
5
FTD-GRN causes blood-brain barrier dysfunction and neurovascular unit perturbation
PMID: 35879464
6
Gene therapy approaches for PGRN restoration show safety and bioactivity in clinical trials
PMID: 38745011
7
Sortilin inhibition by latozinemab increases PGRN levels in plasma and CSF
PMID: 37322482
Disease Associationsβ“˜22
GRN-related frontotemporal lobar degeneration with Tdp43 inclusionsOpen Targets
0.79Strong
neuronal ceroid lipofuscinosis 11Open Targets
0.79Strong
CLN11 diseaseOpen Targets
0.71Strong
frontotemporal dementiaOpen Targets
0.65Moderate
Alzheimer diseaseOpen Targets
0.57Moderate
Primary progressive aphasiaOpen Targets
0.56Moderate
dementiaOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.49Moderate
neuronal ceroid lipofuscinosisOpen Targets
0.47Moderate
amyotrophic lateral sclerosisOpen Targets
0.47Moderate
neuronal ceroid lipofuscinosis 1Open Targets
0.46Moderate
CLN1 diseaseOpen Targets
0.46Moderate
frontotemporal dementia and/or amyotrophic lateral sclerosisOpen Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.40Weak
frontotemporal dementia with motor neuron diseaseOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.35Weak
Cognitive impairmentOpen Targets
0.34Weak
familial amyotrophic lateral sclerosisOpen Targets
0.34Weak
mental or behavioural disorderOpen Targets
0.34Weak
parkinsonian disorderOpen Targets
0.34Weak
Ceroid lipofuscinosis, neuronal, 11UniProt
Frontotemporal dementia 2UniProt
Pathogenic Variants132
NM_002087.4(GRN):c.708+1G>APathogenic
Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2026
NM_002087.4(GRN):c.709-2A>GPathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Primary progressive aphasia
β˜…β˜…β˜†β˜†2025
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_002087.4(GRN):c.388_391del (p.Gln130fs)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|GRN-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 130
NM_002087.4(GRN):c.708+6_708+9delPathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|Inborn genetic diseases|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2025
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|GRN-related disorder|Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2025β†’ Residue 493
NM_002087.4(GRN):c.934-1G>ALikely pathogenic
Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2025
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Amyotrophic lateral sclerosis type 10
β˜…β˜…β˜†β˜†2025β†’ Residue 418
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)Pathogenic
not provided|Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2025β†’ Residue 253
NM_002087.4(GRN):c.154del (p.Thr52fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2024β†’ Residue 52
NM_002087.4(GRN):c.675_676del (p.Ser226fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2024β†’ Residue 226
NM_002087.4(GRN):c.6G>A (p.Trp2Ter)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2024β†’ Residue 2
NM_002087.4(GRN):c.1145del (p.Thr382fs)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2024β†’ Residue 382
NM_002087.4(GRN):c.918C>A (p.Cys306Ter)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 306
NM_002087.4(GRN):c.592_593del (p.Arg198fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2024β†’ Residue 198
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2024β†’ Residue 337
NM_002087.4(GRN):c.468_474del (p.Cys157fs)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_002087.4(GRN):c.709-1G>APathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Melanoma
β˜…β˜…β˜†β˜†2024
NM_002087.4(GRN):c.813_816del (p.Thr272fs)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β˜…β˜…β˜†β˜†2024β†’ Residue 272
View on ClinVar β†—
Related Genes
SORT1Protein interaction97%TARDBPProtein interaction96%SLPIProtein interaction93%HSPG2Protein interaction91%C9orf72Protein interaction89%MAPTProtein interaction89%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
87%
Heart
32%
Liver
24%
Ovary
20%
Brain
13%
Gene Interaction Network
Click a node to explore
GRNSORT1TARDBPSLPIHSPG2C9orf72MAPT
PROTEIN STRUCTURE
Preparing viewer…
PDB8T8R Β· 2.87 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.44 [0.33–0.59]
RankingsWhere GRN stands among ~20K protein-coding genes
  • #384of 20,598
    Most Researched611 Β· top 5%
  • #587of 5,498
    Most Pathogenic Variants132 Β· top quartile
  • #3,997of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedGRN
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic.
PMID: 34450028
Cell Β· 2021
1.00
2
Genetics and Neuropathology of Neurodegenerative Dementias.
PMID: 39620845
Continuum (Minneap Minn) Β· 2024
0.90
3
Progranulin-dependent repair function of regulatory T cells drives bone-fracture healing.
PMID: 39509336
J Clin Invest Β· 2024
0.90
4
Peripheral expression of brain-penetrant progranulin rescues pathologies in mouse models of frontotemporal lobar degeneration.
PMID: 38838131
Sci Transl Med Β· 2024
0.88
5
Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD.
PMID: 40596721
Commun Biol Β· 2025
0.82