Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2896
Gene name Gene Name - the full gene name approved by the HGNC.
Granulin precursor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRN
Synonyms (NCBI Gene) Gene synonyms aliases
CLN11, FTD2, GEP, GP88, PCDGF, PEPI, PGRN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CLN11, FTD2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004761 hsa-miR-107 Microarray, Western blot 20884628
MIRT004761 hsa-miR-107 Microarray, Western blot 20884628
MIRT004761 hsa-miR-107 Microarray, Western blot 20884628
MIRT000034 hsa-miR-659-3p Luciferase reporter assay, Western blot 18723524
MIRT000034 hsa-miR-659-3p Luciferase reporter assay, Western blot 18723524
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002265 Process Astrocyte activation involved in immune response ISS
GO:0002282 Process Microglial cell activation involved in immune response ISS
GO:0003723 Function RNA binding HDA 22658674
GO:0005125 Function Cytokine activity IEA
GO:0005515 Function Protein binding IPI 12526812, 16189514, 21078624, 21092856, 21516116, 21988832, 23088713, 23236149, 24070898, 25416956, 25839164, 25910212, 26370502, 27789271, 28453791, 28493053, 28541286, 29892012, 31515488, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138945 4601 ENSG00000030582
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Ceroid lipofuscinosis neuronal CEROID LIPOFUSCINOSIS, NEURONAL, 11 rs121434286, rs267606737, rs104894483, rs121908079, rs786205065, rs397515352, rs774543080, rs121908080, rs104894486, rs786205067, rs154774633, rs154774634, rs154774636, rs587776892, rs387907043
View all (20 more)
23338682, 16950801, 28264768, 27258413, 20142524, 22608501, 17202431, 18183624, 16862116, 22647257, 21482928, 17334266, 17439980
Myasthenic syndrome Congenital myasthenic syndrome ib rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 20400120, 22895706, 20667979 ClinVar
Diabetes Diabetes GWAS
Associations from Text Mining
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