GRN granulin precursor
Gene ID: 2896, updated on 7-Apr-2024Gene type: protein coding
Also known as: GEP; GP88; PEPI; PGRN; CLN11; PCDGF
- See all available tests in GTR for this gene
- Go to complete Gene record for GRN
- Go to Variation Viewer for GRN variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 6q22 and 17q21 are associated with intracranial volume. GeneReviews: Not available | |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | See labs |
| Neuronal ceroid lipofuscinosis 11 | See labs |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (44345302..44353106)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GRN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GRN database
- MedGenRelated information in MedGen
- Neuronal Ceroid Lipofuscinoses; NCL Mutations
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.