Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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

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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
rs63750077	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs63750331	G>A	Pathogenic, not-provided	Initiator codon variant, missense variant
rs63750411	C>T	Pathogenic	Stop gained, coding sequence variant
rs63750412	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs63750548	A>G	Pathogenic, not-provided	Splice acceptor variant
rs63750707	G>A	Likely-pathogenic, not-provided	Splice donor variant
rs63751006	T>C	Pathogenic, not-provided	Initiator codon variant, missense variant
rs63751020	A>G,T	Likely-pathogenic, not-provided	Intron variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs63751035	TG>-,TGTG	Pathogenic, not-provided	Stop gained, inframe indel, frameshift variant, coding sequence variant
rs63751073	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs63751074	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs63751085	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs63751100	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs63751166	G>A	Pathogenic, not-provided	Synonymous variant, coding sequence variant
rs63751177	G>A	Pathogenic	Stop gained, coding sequence variant
rs63751180	C>A,G,T	Pathogenic	Synonymous variant, stop gained, missense variant, coding sequence variant
rs63751243	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs63751294	C>T	Pathogenic	Stop gained, coding sequence variant
rs63751296	G>C	Pathogenic, not-provided	Splice acceptor variant
rs193026789	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs606231220	->CCTG	Pathogenic	Coding sequence variant, frameshift variant
rs606231221	G>A	Pathogenic	Splice donor variant
rs770058074	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs778599933	TGAG>-	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs794729669	G>C	Pathogenic	Splice donor variant
rs794729670	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs794729671	->T	Pathogenic	Coding sequence variant, frameshift variant
rs794729672	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1392550887	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555610855	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555611136	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611154	G>A	Pathogenic	Splice acceptor variant
rs1555611253	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555611256	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611293	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555611412	A>G	Pathogenic	Splice acceptor variant
rs1555611439	->AACGT	Pathogenic	Frameshift variant, coding sequence variant
rs1567885658	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567885728	G>A	Likely-pathogenic	Splice donor variant
rs1567886206	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567886445	->TGTGAAGACAGGGTGCACTGCTGTC	Pathogenic	Frameshift variant, coding sequence variant
rs1567886478	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567887004	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs1567887015	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567887496	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567887567	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1567887777	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1567888461	C>A	Pathogenic	Coding sequence variant, stop gained
rs1598362746	G>A	Pathogenic	Coding sequence variant, stop gained
rs1598363083	G>C	Pathogenic	Splice donor variant
rs1598363490	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1598364296	TCAGGCCAC>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1598364358	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1598364782	C>A	Pathogenic	Coding sequence variant, stop gained
rs1598364961	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

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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
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT021404	hsa-miR-9-5p	Reporter assay	20479936
MIRT004761	hsa-miR-107	Reporter assay;Western blot;Microarray	20489155
MIRT005486	hsa-miR-29b-3p	Reporter assay;Western blot;Other	20479936
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2239479	hsa-miR-4701-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2543202	hsa-miR-1224-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT2543203	hsa-miR-1245b-5p	CLIP-seq
MIRT2543204	hsa-miR-1304	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2543205	hsa-miR-3142	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT2543206	hsa-miR-3158-5p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT2543207	hsa-miR-3678-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2543208	hsa-miR-4281	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT2543209	hsa-miR-4446-3p	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT2543210	hsa-miR-4493	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT2543211	hsa-miR-4721	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2543212	hsa-miR-4740-3p	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT2543213	hsa-miR-4747-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT2543214	hsa-miR-4758-3p	CLIP-seq
MIRT2543215	hsa-miR-4760-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq
MIRT2543202	hsa-miR-1224-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT2543203	hsa-miR-1245b-5p	CLIP-seq
MIRT2543204	hsa-miR-1304	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2543205	hsa-miR-3142	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT2543206	hsa-miR-3158-5p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT2543207	hsa-miR-3678-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2543208	hsa-miR-4281	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT2543209	hsa-miR-4446-3p	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT2543210	hsa-miR-4493	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT2543211	hsa-miR-4721	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2543212	hsa-miR-4740-3p	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT2543213	hsa-miR-4747-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT2543214	hsa-miR-4758-3p	CLIP-seq
MIRT2543215	hsa-miR-4760-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq

Show/Hide all(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
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, 21653829, 21988832, 23088713, 23236149, 24070898, 25416956, 25839164, 25910212, 26370502, 27789271, 28453791, 28493053, 28541286, 29892012, 31515488, 32296183, 32814053, 33961781, 35140242
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IDA	21092856, 26370502
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	20479936
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IDA	26370502, 28073925, 28541286, 28743268
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	21092856
GO:0005768	Component	Endosome	IDA
GO:0005770	Component	Late endosome	IDA	26370502
GO:0005783	Component	Endoplasmic reticulum	IDA	26370502, 28073925
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	28073925
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0005886	Component	Plasma membrane	IDA	21092856
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	ISS
GO:0007041	Process	Lysosomal transport	IEA
GO:0007041	Process	Lysosomal transport	IMP	28541286
GO:0007041	Process	Lysosomal transport	ISS
GO:0007042	Process	Lysosomal lumen acidification	IMP	28073925
GO:0007165	Process	Signal transduction	NAS	1542665
GO:0007566	Process	Embryo implantation	IEA
GO:0008083	Function	Growth factor activity	TAS	1542665
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	ISS
GO:0016020	Component	Membrane	IDA	28073925
GO:0030335	Process	Positive regulation of cell migration	IMP	27571908
GO:0031982	Component	Vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	18378771
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045824	Process	Negative regulation of innate immune response	IEA
GO:0048680	Process	Positive regulation of axon regeneration	IEA
GO:0048680	Process	Positive regulation of axon regeneration	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	12526812
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050821	Process	Protein stabilization	IMP	28453791
GO:0051087	Function	Protein-folding chaperone binding	IDA	27789271
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060266	Process	Negative regulation of respiratory burst involved in inflammatory response	IDA	12526812
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0106016	Process	Positive regulation of inflammatory response to wounding	IEA
GO:0106016	Process	Positive regulation of inflammatory response to wounding	ISS
GO:0150053	Component	Cerebellar climbing fiber to Purkinje cell synapse	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	ISS
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	12526812
GO:1903334	Process	Positive regulation of protein folding	IEA
GO:1903334	Process	Positive regulation of protein folding	ISS
GO:1903979	Process	Negative regulation of microglial cell activation	IEA
GO:1903979	Process	Negative regulation of microglial cell activation	ISS
GO:1904075	Process	Positive regulation of trophectodermal cell proliferation	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IEA
GO:1905247	Process	Positive regulation of aspartic-type peptidase activity	IMP	28453791
GO:1905247	Process	Positive regulation of aspartic-type peptidase activity	ISS
GO:1905671	Process	Regulation of lysosome organization	IEA
GO:1905673	Process	Positive regulation of lysosome organization	IDA	28073925
GO:1905673	Process	Positive regulation of lysosome organization	IEA

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
SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQ
SGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQAL
KRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGS
EIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQG
WACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL

Sequence length

593

Interactions

View interactions

	Reactome
			Neutrophil degranulation

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Frontotemporal dementia	frontotemporal dementia	rs63749801, rs1567885658, rs1567886206, rs63751035, rs1567886445, rs1567886478, rs794729672, rs1567887015, rs794729669, rs1567887777, rs63749817, rs1567888461, rs794729670, rs193026789, rs794729671	N/A
neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis 11	rs63749877, rs63750411	N/A
alzheimer disease	Alzheimer disease	rs1567885728	N/A
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis type 10	rs63751180	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Mild age-related type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (197)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Aphasia Primary Progressive	Associate	17522386, 19766663, 20400120, 20479359, 20713949, 24449064, 25765123, 26791154, 27082848, 28594853, 30599136, 30921613, 35139897, 37459659
Apraxias	Associate	31448566, 35790423
Arthritis	Associate	23543794
Arthritis Rheumatoid	Associate	20506400, 26339140
Asthma	Associate	29717106
Ataxia	Associate	24779634, 34130600
Atherosclerosis	Associate	24098801
Atrophy	Associate	16983677, 18234697, 19255408, 20045477, 23687363, 24449064, 26507310, 26791154, 26852323, 27003218, 28430294, 31918955, 33112398, 35964197
Atrophy	Stimulate	25683866
Attention Deficit Disorder with Hyperactivity	Associate	18413474
Autoimmune Diseases	Associate	23543794, 33152005
Basal Ganglia Diseases	Associate	23596077
Bipolar Disorder	Associate	22505994, 28664756
Bone Diseases	Associate	17900349
Brain Damage Chronic	Associate	25188321
Brain Diseases	Associate	21753165, 34130600
Brain Injuries Traumatic	Stimulate	33969679
Breast Neoplasms	Associate	10760271, 11134521, 21658239, 22176685, 22316048, 24641868, 25033727, 33618683, 40594370
Breast Neoplasms	Stimulate	27501955, 31928925, 34428050
Carcinogenesis	Associate	24009671, 25033727, 31023186, 31895802, 32417448, 33618683
Carcinogenesis	Stimulate	33411849
Carcinoma Ductal	Associate	21658239, 22316048
Carcinoma Hepatocellular	Associate	22792281, 25115442, 25885205, 26173068, 26350749, 28601093, 34002672
Carcinoma Non Small Cell Lung	Associate	25033727
Carcinoma Ovarian Epithelial	Associate	15139056
Carcinoma Renal Cell	Associate	37762031
Carcinoma Squamous Cell	Associate	25033727, 27571908, 32351136, 32372702, 33671013
Cardiovascular Diseases	Associate	32781905
Cell Transformation Neoplastic	Associate	10760271, 31864418
Cerebellar Ataxia	Associate	31855245
Cerebral Cortical Thinning	Associate	33418170
Cerebral Palsy	Associate	24005336
Chronobiology Disorders	Associate	35799292
Cognition Disorders	Associate	24064467, 24779634, 30482868, 31855245, 38415376
Cognitive Dysfunction	Associate	19683260, 20142525, 37895139
Cognitive Dysfunction	Stimulate	37348248
Colorectal Neoplasms	Associate	23748022, 28412748, 29754471, 30378010, 31361391, 34208547
Coronavirus Infections	Associate	34424948
Corticobasal Degeneration	Associate	18322394, 19683260, 19876635, 20142524, 21863316, 26852323, 26961809, 28473694, 29926172, 30921613, 35859258
COVID 19	Associate	33249471, 34424948
Death	Associate	29584904, 33618683
Dementia	Associate	16983685, 19158106, 20142525, 21047645, 22312439, 23463024, 23759146, 24005336, 25188321, 26961809, 27632209, 27997711, 28189700, 29476165, 30530974 View all (8 more)
Demyelinating Diseases	Associate	21613335, 30112957
Diabetes Mellitus Type 2	Stimulate	19056610
Diabetes Mellitus Type 2	Associate	30118483, 32620998
Diffuse Cerebral Sclerosis of Schilder	Associate	19255408
Diffuse Neurofibrillary Tangles with Calcification	Associate	34374777
Dyslipidemias	Associate	19056610, 37582372
Dysphonia	Associate	35859258
Dystonic Disorders	Associate	35790423
Embolism Fat	Stimulate	19056610
Encephalitis Viral	Associate	21613335
Endometriosis	Inhibit	33029756
Epilepsy Temporal Lobe	Associate	21172844
Esophageal Squamous Cell Carcinoma	Associate	25015989
Eye Injuries Penetrating	Associate	34344473
Frailty	Associate	32886731
Frontotemporal Dementia	Associate	16983677, 16983685, 17371905, 17522386, 17591968, 17949857, 18183624, 18322394, 18359860, 18723524, 19158106, 19683260, 19776335, 20012109, 20142524 View all (149 more)
Frontotemporal Dementia	Inhibit	23063362
Frontotemporal Lobar Degeneration	Associate	16983685, 17353379, 17522386, 17579875, 17898224, 18166610, 18183624, 18223198, 18234697, 18413474, 18648346, 18723524, 18974920, 19158106, 19255408 View all (101 more)
Gait Apraxia	Associate	19683260
Gardner Syndrome	Associate	19876635
Gastritis	Stimulate	21707777
Gastrointestinal Diseases	Associate	23543794
Gastrointestinal Stromal Tumors	Associate	33411849
Gaucher Disease	Inhibit	31358474
Gaucher Disease	Associate	34130600, 36889696
Genetic Diseases Inborn	Associate	30831384
Gerstmann Straussler Scheinker Disease	Associate	34130600
Gestational Weight Gain	Stimulate	32321883
Glioblastoma	Associate	19237611, 39185427
Gliosis	Associate	27435172
Glucose Intolerance	Associate	24005336
Glycogen Storage Disease	Associate	34130600
Glycogen Storage Disease Type II	Associate	21689671
Gray Platelet Syndrome	Associate	20045477
Hearing Disorders	Associate	30896577
Helicobacter Infections	Stimulate	21612671, 35880418
Hepatitis B	Stimulate	25885205
Hepatitis B	Associate	29790198, 35836354
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	19237611
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31928925
Heredodegenerative Disorders Nervous System	Associate	20142525
Hippocampal Sclerosis	Associate	20012109, 20197700, 21346515, 25470345, 27003218, 28131462, 28189700, 31376286, 34526147, 35258170, 37528055
Huntington Disease	Associate	34130600
Hypertensive Retinopathy	Associate	24779634
Hypertrophy	Associate	39653186
Immunologic Deficiency Syndromes	Associate	26624524, 38415376
Inflammation	Associate	19056610, 19963041, 21613335, 23543794, 23702100, 24098801, 25890304, 26339140, 29717106, 31023186, 32620998, 32886731, 33433878, 33618683, 40226614
Inflammation	Inhibit	29740434, 31864418, 33969679
Insulin Resistance	Stimulate	20570822
Insulin Resistance	Associate	30118483, 32321883
Language Disorders	Associate	18234697, 18322394, 22491866, 24064467, 31835286, 36538154, 37348248
Laryngeal Adductor Paralysis	Associate	35859258
Leukemia Lymphocytic Chronic B Cell	Associate	20884628, 24009671
Leukemia Myeloid Acute	Associate	26655501, 27359334
Leukemia Myeloid Acute	Stimulate	31895802
Leukoencephalopathies	Associate	28529873, 30112957, 31835286
Lewy Body Disease	Associate	28003435, 31996268, 35810449
limbic predominant age related TDP 43 encephalopathy	Associate	31039256, 31376286, 34854996, 37528055
Lumbar Stenosis Familial	Associate	39653186
Lung Injury	Stimulate	33249471
Lupus Erythematosus Systemic	Stimulate	23702100
Lymphoma Large B Cell Diffuse	Associate	35947123
Lysosomal Storage Diseases	Associate	33433878
Malformations of Cortical Development	Associate	21613335, 28877758, 34544819
Melanoma	Associate	35475908, 36977840
Memory Disorders	Associate	19766663
Mental Disorders	Associate	19683260, 35859258, 37895139
Mesothelioma	Associate	36471440
Microphthalmia Syndromic 10	Associate	20045477, 21753165, 25683866, 33112398
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	26173068
Mood Disorders	Associate	32769115
Motor Neuron Disease	Associate	19884572, 21482928, 25239657
Multiple Sclerosis	Associate	21613335
Multiple Sclerosis Chronic Progressive	Associate	31484947
Multiple System Atrophy	Associate	20142524
Muscular Diseases	Associate	34130600
Neoplasm Metastasis	Associate	25885205
Neoplasm Metastasis	Inhibit	29754471
Neoplasm Metastasis	Stimulate	33618683
Neoplasms	Associate	10760271, 12900424, 20884628, 22316048, 22465712, 25115442, 25885205, 27501955, 27571908, 27903606, 30378010, 32417448, 33411849, 33545567, 34208547 View all (5 more)
Neoplasms	Stimulate	12087473, 18359860
Neoplasms	Inhibit	22792281, 28601093
Nerve Degeneration	Associate	23063362, 26624524, 31361008, 34374777, 36220610, 36430231
Nervous System Diseases	Associate	20142525
Neurobehavioral Manifestations	Associate	30921613
Neuroblastoma	Associate	25377796
Neurodegenerative Diseases	Associate	17898224, 20142524, 21087763, 21454553, 23396349, 25081482, 25175602, 25377796, 26961809, 27435172, 27903606, 27997711, 28189700, 28473694, 29044416 View all (11 more)
Neurodegenerative Diseases	Inhibit	29559004
Neuroinflammatory Diseases	Associate	28529873, 33969679
Neurologic Manifestations	Associate	18413474, 19766663, 24064467, 38203682, 38415376
Neuronal Ceroid Lipofuscinoses	Associate	24779634, 28743268, 29036611, 34130600, 35241513, 39394881
Neuronal intestinal pseudoobstruction	Associate	20142524
Niemann Pick Disease Type A	Associate	34130600
Obesity	Associate	19056610, 30118483, 32620998
Obesity	Stimulate	30151059
Osteoarthritis	Associate	20506400, 32037864
Osteoarthritis	Inhibit	29717106, 32037864
Osteoporosis	Associate	32827035
Ovarian Neoplasms	Associate	12900424, 15139056, 22176685, 24055910, 36430166
palinopsia	Associate	24779634
Pancreatic Neoplasms	Associate	23508014
Parietal Foramina	Associate	18234697
Parkinson Disease	Associate	21482928, 23342160, 25997059, 29653316, 34130600, 35810449, 36504281, 37328865, 40183420
Parkinson Disease Familial Type 1	Associate	24064467
Parkinson Disease Secondary	Associate	17949857, 19683260, 20142525, 20930269, 21892619, 24064467, 28268100, 28430294, 36216226
Plaque Amyloid	Associate	17522386, 21696412, 34374777, 37895139
Precancerous Conditions	Associate	21707777
Primary Progressive Nonfluent Aphasia	Associate	18234697, 24449064
Progressive supranuclear palsy atypical	Associate	20142524
Prostatic Neoplasms	Associate	19179604, 25365768, 32883962
Prostatic Neoplasms	Stimulate	28211531, 28433812
Prostatitis	Associate	19179604
Prostatitis	Stimulate	20884628
Proteostasis Deficiencies	Associate	28473694
Psychotic Disorders	Associate	30010122, 39284109
Pyruvate Carboxylase Deficiency Disease	Associate	10760271
Respiratory Sounds	Associate	35859258
Retinal Degeneration	Associate	36216226
Retinal Dystrophies	Associate	32778130, 36912596
Retinitis Pigmentosa	Associate	31855245
Retrograde Degeneration	Associate	27435172
Schizophrenia	Associate	20937952, 22505994
Seizures	Associate	24779634, 31855245
Signs and Symptoms	Associate	39284109
Sjogren's Syndrome	Associate	28122643
Speech Disorders	Associate	37348248
Spherocytosis Type 1	Associate	31376286
Spinocerebellar Ataxias	Associate	28946818
Spinocerebellar Degenerations	Associate	29984158
Squamous Cell Carcinoma of Head and Neck	Associate	33545567
Stomach Neoplasms	Stimulate	21707777
Stomach Neoplasms	Associate	35880418
Supranuclear Palsy Progressive	Associate	35842134
Syndrome	Associate	35859258
Synucleinopathies	Associate	28473694
Tauopathies	Associate	28473694
TDP 43 Proteinopathies	Associate	18974920, 20930269, 21047645, 21908872, 22032330, 24139281, 27258413, 28473694, 29984158, 32526197, 36191742
Teratoma	Associate	10760271
Tooth Loss	Associate	31376286
Torsades de Pointes	Associate	26791154, 40063407
Urinary Bladder Neoplasms	Associate	19237611, 21263192, 32417448, 34359965, 36471440
Uterine Cervical Neoplasms	Associate	33671013
Vasculitis Leukocytoclastic Cutaneous	Associate	23543794
Vision Disorders	Associate	24779634
Weight Gain	Associate	32321883

GRN (granulin precursor)