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GRN (granulin precursor)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2896
Gene nameGene Name - the full gene name approved by the HGNC.
Granulin precursor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GRN
SynonymsGene synonyms aliases
CLN11, FTD2, GEP, GP88, PCDGF, PEPI, PGRN
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGP
CQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNS
VGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCIT
PTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCL
SKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQ
SGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCE
QGPHQVPWMEKAPAHLSLPDPQAL
KRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGS
EIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCE
KEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQG
WACCPYRQGVCCADRRHCCPAGFRCAARGTKCL
RREAPRWDAPLRDPALRQLL
Sequence length 593
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neutrophil degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316
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, rs154774640, rs154774639, rs587779408, rs786201028, rs1555438234, rs1451777867, rs762902907, rs756522171, rs1555440188, rs1555440206, rs1555438212, rs1555438229, rs1555438411, rs1555438443, rs1555438614, rs758921701, rs1567095153, rs1381427322, rs1012449574, rs1600887859 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, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822
Unknown
Disease name Disease term dbSNP ID References
Abulia Abulia
Alexia Alexia
Anomia Anomia
Anxiety disorder Anxiety

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