GenTIGS

Granulin precursor (GRN) Associated conditions: 1. Neuronal ceroid lipofuscinosis 2. Frontotemporal dementia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_002087.4	NP_002078.1	NC_000017.11	(44345301..44353105)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1610 reference articles

Variant Information Granulin precursor (GRN) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Granulin precursor (GRN)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	astrocyte activation involved in immune response	Process	-
2	Homo sapiens	ISS	involved_in	astrocyte activation involved in immune response	Process	-
3	Homo sapiens	IEA	involved_in	microglial cell activation involved in immune response	Process	-
4	Homo sapiens	ISS	involved_in	microglial cell activation involved in immune response	Process	-
5	Homo sapiens	HDA	enables	RNA binding	Function	22658674
6	Homo sapiens	IEA	enables	cytokine activity	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	12526812 12900424 16189514 21078624 21092856 21516116 21653829 21988832 23088713 23236149 24070898 25416956 25839164 25910212 26370502 27789271 28453791 28493053 28541286 29892012 31515488 32296183 32814053 33961781 35140242
8	Homo sapiens	IBA	is_active_in	extracellular region	Component	-
9	Homo sapiens	IDA	located_in	extracellular region	Component	21092856 26370502
10	Homo sapiens	IEA	located_in	extracellular region	Component	-
11	Homo sapiens	TAS	located_in	extracellular region	Component	-
12	Homo sapiens	IDA	located_in	extracellular space	Component	20479936
13	Homo sapiens	IEA	located_in	extracellular space	Component	-
14	Homo sapiens	IDA	located_in	lysosome	Component	26370502 28073925 28541286 28743268
15	Homo sapiens	IEA	located_in	lysosome	Component	-
16	Homo sapiens	IDA	located_in	lysosomal membrane	Component	21092856
17	Homo sapiens	IDA	located_in	endosome	Component	-
18	Homo sapiens	IDA	located_in	late endosome	Component	26370502
19	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	26370502 28073925
20	Homo sapiens	IEA	located_in	endoplasmic reticulum	Component	-
21	Homo sapiens	IDA	located_in	Golgi apparatus	Component	28073925
22	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
23	Homo sapiens	IEA	located_in	trans-Golgi network	Component	-
24	Homo sapiens	ISS	located_in	trans-Golgi network	Component	-
25	Homo sapiens	IDA	located_in	plasma membrane	Component	21092856
26	Homo sapiens	IEA	involved_in	lysosome organization	Process	-
27	Homo sapiens	ISS	involved_in	lysosome organization	Process	-
28	Homo sapiens	IEA	involved_in	lysosomal transport	Process	-
29	Homo sapiens	IMP	involved_in	lysosomal transport	Process	28541286
30	Homo sapiens	ISS	involved_in	lysosomal transport	Process	-
31	Homo sapiens	IMP	involved_in	lysosomal lumen acidification	Process	28073925
32	Homo sapiens	NAS	involved_in	signal transduction	Process	1542665
33	Homo sapiens	TAS	enables	growth factor activity	Function	1542665
34	Homo sapiens	IEA	involved_in	positive regulation of cell population proliferation	Process	-
35	Homo sapiens	IEA	involved_in	positive regulation of endothelial cell migration	Process	-
36	Homo sapiens	ISS	involved_in	positive regulation of endothelial cell migration	Process	-
37	Homo sapiens	IDA	located_in	membrane	Component	28073925
38	Homo sapiens	IMP	involved_in	positive regulation of cell migration	Process	27571908
39	Homo sapiens	IEA	located_in	vesicle	Component	-
40	Homo sapiens	TAS	located_in	azurophil granule lumen	Component	-
41	Homo sapiens	IDA	involved_in	negative regulation of neuron apoptotic process	Process	18378771
42	Homo sapiens	IEA	involved_in	positive regulation of neuron apoptotic process	Process	-
43	Homo sapiens	ISS	involved_in	positive regulation of neuron apoptotic process	Process	-
44	Homo sapiens	IEA	involved_in	positive regulation of angiogenesis	Process	-
45	Homo sapiens	ISS	involved_in	positive regulation of angiogenesis	Process	-
46	Homo sapiens	IEA	involved_in	negative regulation of innate immune response	Process	-
47	Homo sapiens	IEA	involved_in	positive regulation of axon regeneration	Process	-
48	Homo sapiens	ISS	involved_in	positive regulation of axon regeneration	Process	-
49	Homo sapiens	IDA	involved_in	positive regulation of epithelial cell proliferation	Process	12526812
50	Homo sapiens	IBA	involved_in	regulation of inflammatory response	Process	-
51	Homo sapiens	IEA	involved_in	negative regulation of inflammatory response	Process	-
52	Homo sapiens	IEA	involved_in	regulation of developmental process	Process	-
53	Homo sapiens	IMP	involved_in	protein stabilization	Process	28453791
54	Homo sapiens	IDA	enables	protein-folding chaperone binding	Function	27789271
55	Homo sapiens	IEA	involved_in	positive regulation of cellular component organization	Process	-
56	Homo sapiens	IEA	involved_in	establishment of localization in cell	Process	-
57	Homo sapiens	IDA	involved_in	negative regulation of respiratory burst involved in inflammatory response	Process	12526812
58	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145
59	Homo sapiens	IEA	involved_in	maintenance of synapse structure	Process	-
60	Homo sapiens	IEA	involved_in	positive regulation of inflammatory response to wounding	Process	-
61	Homo sapiens	ISS	involved_in	positive regulation of inflammatory response to wounding	Process	-
62	Homo sapiens	IEA	is_active_in	cerebellar climbing fiber to Purkinje cell synapse	Component	-
63	Homo sapiens	IEA	involved_in	positive regulation of defense response to bacterium	Process	-
64	Homo sapiens	ISS	involved_in	positive regulation of defense response to bacterium	Process	-
65	Homo sapiens	IDA	involved_in	negative regulation of neutrophil activation	Process	12526812
66	Homo sapiens	IEA	involved_in	positive regulation of protein folding	Process	-
67	Homo sapiens	ISS	involved_in	positive regulation of protein folding	Process	-
68	Homo sapiens	IEA	involved_in	negative regulation of microglial cell activation	Process	-
69	Homo sapiens	ISS	involved_in	negative regulation of microglial cell activation	Process	-
70	Homo sapiens	IMP	involved_in	positive regulation of aspartic-type peptidase activity	Process	28453791
71	Homo sapiens	ISS	involved_in	positive regulation of aspartic-type peptidase activity	Process	-
72	Homo sapiens	IDA	involved_in	positive regulation of lysosome organization	Process	28073925
73	Homo sapiens	IEA	involved_in	positive regulation of lysosome organization	Process	-