Gene Report

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Basic Info

Approved Symbol	GRN
Symbol Alias	PCDGF, PGRN, CLN11
Approved Name	granulin
Name Alias	progranulin
Location	17q21.32
Position	chr17:44345086-44353102, 1
External Links	HGNC: 4601 Entrez Gene: 2896 Ensembl: ENSG00000030582 UCSC: uc002igp.1
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Galimberti, D.,2012	SNP: rs2879096, rs3785817, rs4792938, rs5848, rs9897526	In conclusion, we demonstrated that GRN variability contributes to schizophrenia and BPD development.	Positive	Comment on Study
Galimberti, D., 2014	SNP: rs5848, rs2879096, rs4792938 Other variant: GRN_C/T	One SNP in this gene is significant in BD-I, but not BD-II. Regarding the influence of GRN variability on BD susceptibility, the predisposing genetic background differs between BD-I and BD-II, possibly implying that pathogenic mechanisms differ between the two subtypes of BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005125	cytokine activity	molecular function	IEA	13

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008083	growth factor activity	molecular function	TAS[1542665]	15
GO:0050679	positive regulation of epithelial cell proliferation	biological process	IEA	9
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0007165	signal transduction	biological process	NAS[1542665]	136
GO:0005515	protein binding	molecular function	IPI[16189514]	563
GO:0005615	extracellular space	cellular component	IEA	85
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0007566	embryo implantation	biological process	IEA	8
GO:0001835	blastocyst hatching	biological process	IEA	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
pepiPathway	Proepithelin Conversion to Epithelin and Wound Repair Control	1

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GRN	ELANE	NO	in vitro;in vivo	12526812
GRN	HK3	NO	in vitro;in vivo;yeast 2-hybrid	11068878
GRN	FAM131C	NO	yeast 2-hybrid	16189514
GRN	HOXA1	NO	yeast 2-hybrid	16189514
GRN	TOP3B	NO	yeast 2-hybrid	11549288
GRN	CCNT1	NO	in vitro;in vivo;yeast 2-hybrid	12588988
GRN	SLPI	NO	in vitro;in vivo;yeast 2-hybrid	12526812
GRN	DLK1	NO	yeast 2-hybrid	11846389
GRN	HSPG2	NO	in vivo	12900424
GRN	CDK9	NO	in vivo	12588988
GRN	ATN1	NO	yeast 2-hybrid	16713569
GRN	SMAD9	NO	yeast 2-hybrid	15231748

Related other genetic factors

Gene related SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3785817	chr17:44346297 - 44346297(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4792938	chr17:44347231 - 44347231(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs2879096	chr17:44346188 - 44346188(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs9897526	chr17:44349572 - 44349572(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs5848	chr17:44352876 - 44352876(1)	3_prime_UTR_variant; downstream_gene_variant	2(1/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3760365		chr17:44343308 - 44343308(1)	upstream_gene_variant
rs3859268		chr17:44345895 - 44345895(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GRN_C/T	point mutation		1 (1/0/0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q21	chr17:39800000-52100000	1 (0/1/0)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
22505994	In conclusion, we demonstrated that GRN variability contributes to schizophrenia and BPD development.	Positive

Gene relationship with MDD

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Region: chr17:44345086..44353102 View in gBrowse