Gene Gene information from NCBI Gene database.
Entrez ID 2896
Gene name Granulin precursor
Gene symbol GRN
Synonyms (NCBI Gene)
CLN11FTD2GEPGP88PCDGFPEPIPGRN
Chromosome 17
Chromosome location 17q21.31
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
SNPs SNP information provided by dbSNP.
60
SNP ID Visualize variation Clinical significance Consequence
rs63749801 CAGT>- Pathogenic Frameshift variant, coding sequence variant
rs63749817 G>A,C Likely-pathogenic, pathogenic, not-provided Splice donor variant
rs63749877 CACT>- Pathogenic, not-provided Frameshift variant, coding sequence variant
rs63749905 ->A Pathogenic, not-provided Frameshift variant, coding sequence variant
rs63749908 C>T Pathogenic, not-provided Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
236
miRTarBase ID miRNA Experiments Reference
MIRT004761 hsa-miR-107 MicroarrayWestern blot 20884628
MIRT004761 hsa-miR-107 MicroarrayWestern blot 20884628
MIRT004761 hsa-miR-107 MicroarrayWestern blot 20884628
MIRT000034 hsa-miR-659-3p Luciferase reporter assayWestern blot 18723524
MIRT000034 hsa-miR-659-3p Luciferase reporter assayWestern blot 18723524
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0001834 Process Trophectodermal cell proliferation IEA
GO:0001835 Process Blastocyst hatching IEA
GO:0002265 Process Astrocyte activation involved in immune response IEA
GO:0002265 Process Astrocyte activation involved in immune response ISS
GO:0002282 Process Microglial cell activation involved in immune response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138945 4601 ENSG00000030582
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28799
Protein name Progranulin (PGRN) (Acrogranin) (Epithelin precursor) (Glycoprotein of 88 Kda) (GP88) (Glycoprotein 88) (Granulin precursor) (PC cell-derived growth factor) (PCDGF) (Proepithelin) (PEPI) [Cleaved into: Paragranulin; Granulin-1 (Granulin G); Granulin-2 (Gr
Protein function Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:28073925, PubMed:28453791, PubMed:28541286). Regu
PDB 1G26 , 2JYE , 2JYT , 2JYU , 2JYV , 6NUG , 8T8R , 8T8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00396 Granulin 72 113 Granulin Family
PF00396 Granulin 138 179 Granulin Family
PF00396 Granulin 220 261 Granulin Family
PF00396 Granulin 295 336 Granulin Family
PF00396 Granulin 377 417 Granulin Family
PF00396 Granulin 455 496 Granulin Family
PF00396 Granulin 532 573 Granulin Family
Tissue specificity TISSUE SPECIFICITY: In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage, in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow. Highest levels in kidney.
Sequence
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGP
CQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNS
VGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCIT
PTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCL
SKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQ
SGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCE
QGPHQVPWMEKAPAHLSLPDPQAL
KRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGS
EIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCE
KEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQG
WACCPYRQGVCCADRRHCCPAGFRCAARGTKCL
RREAPRWDAPLRDPALRQLL
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1228
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alzheimer disease Likely pathogenic rs1567885728 RCV000736249
Amyotrophic lateral sclerosis type 10 Pathogenic rs63751180 RCV002463638
Cognitive impairment Pathogenic rs794729671 RCV005646874
Frontotemporal dementia Pathogenic; Likely pathogenic rs63751035, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs63749801, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461 RCV000736250
RCV000185614
RCV000185610
RCV000185615
RCV000185611
RCV000185612
RCV000185613
RCV000736253
RCV000736257
RCV000736256
RCV000736247
RCV000736254
RCV000736248
RCV000736251
RCV000736255
RCV000736252
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs761620336 RCV005934904
Frontotemporal dementia and/or amyotrophic lateral sclerosis Uncertain significance rs745842292 RCV005250261
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Uncertain significance rs758168578 RCV002290799
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO Benign rs5848 RCV000022594
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Absent radii and thrombocytopenia Associate 23596077, 31376286
Adenocarcinoma Associate 25033727
Adrenal Gland Neoplasms Stimulate 12900424
AIDS Related Complex Associate 34349004
Alzheimer Disease Associate 18551524, 19158106, 19625741, 19683260, 19776335, 20142524, 20142525, 20197700, 21047645, 21971039, 22312439, 22459598, 23396349, 23543794, 24899141
View all (23 more)
Alzheimer Disease Inhibit 21047645, 29559004
Alzheimer Disease Stimulate 31864418
Amyotrophic Lateral Sclerosis Associate 17371905, 20142524, 22083254, 23596077, 30572951, 36264717
Anxiety Associate 30010122
Aphasia Associate 18234697, 20713949, 21689671, 23596077, 31448566