Version: 8.0.0Date: Tue Jan 28 2025
Gene
GRN
- Species
- Homo sapiens
- Symbol
- GRN
- Name
- granulin precursor
- Synonyms
- acrogranin
- CLN11
- Biotype
- protein coding gene
- Automated Description
- Enables protein-folding chaperone binding activity. Involved in several processes, including lysosomal lumen acidification; negative regulation of neutrophil activation; and negative regulation of respiratory burst involved in inflammatory response. Located in several cellular components, including Golgi apparatus; late endosome; and lysosomal membrane. Implicated in dementia (multiple); neurodegenerative disease (multiple); neuronal ceroid lipofuscinosis 11; and primary progressive multiple sclerosis. Biomarker of several diseases, including Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; atherosclerosis; autistic disorder; multiple sclerosis (multiple); and neurodegenerative disease (multiple).
- RGD Description
- Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12274
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr17:44345246...44353106 + (7.86 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.