Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	SYNJ1
Symbol Alias	INPP5G
Approved Name	synaptojanin 1
Location	21q22.2
Position	chr21:32628759-32728048, -1
External Links	HGNC: 11503 Entrez Gene: 8867 Ensembl: ENSG00000159082 UCSC: uc002yqh.2
No. of Studies	2 (Positive: 0; Negative: 2; 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
Stopkova, P., 2004 (b)	Other variant: SYNJ1_intron12_IVS12+15delT,+17delT	In conclusion, although we did not replicate the original finding, the role of SYNJ1 in the pathogenesis of bipolar disorder cannot be ruled out and further investigation is warranted.	Negative	Comment on Study
Saito, T.,2001	Other variant: SYNJ1_IVS12+15delT,+17delT, SYNJ1_IVS28-7G/T, SYNJ1_IVS29+14C/T, SYNJ1_K295R	We failed to unequivocally identify a specific SYNJ1 allele that could be responsible for putative chromosome 21q22-linked BPD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

GO terms by PBA (count: 0)

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016191	synaptic vesicle uncoating	biological process	ISS	1
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006796	phosphate-containing compound metabolic process	biological process	TAS[9428629]	6
GO:0048488	synaptic vesicle endocytosis	biological process	ISS	1
GO:0046855	inositol phosphate dephosphorylation	biological process	ISS	3
GO:1901632	regulation of synaptic vesicle membrane organization	biological process	TAS[21563316]	1
GO:0043647	inositol phosphate metabolic process	biological process	TAS	7
GO:0030117	membrane coat	cellular component	ISS	2
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0048489	synaptic vesicle transport	biological process	ISS	3
GO:0003723	RNA binding	molecular function	IEA	14
GO:1903390	positive regulation of synaptic vesicle uncoating	biological process	TAS[21563316]	1
GO:0046488	phosphatidylinositol metabolic process	biological process	ISS	2
GO:0016082	synaptic vesicle priming	biological process	ISS	3
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	molecular function	ISS	1
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0004445	inositol-polyphosphate 5-phosphatase activity	molecular function	TAS[9428629]	1
GO:0006836	neurotransmitter transport	biological process	ISS	5
GO:0005829	cytosol	cellular component	TAS	223
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	13
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	molecular function	ISS	1
GO:0046856	phosphatidylinositol dephosphorylation	biological process	ISS	2

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00562	Inositol phosphate metabolism	11
hsa04070	Phosphatidylinositol signaling system	16

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
ndkDynaminPathway	Endocytotic role of NDK, Phosphins and Dynamin	3

Gene related interactors from protein-protein interactions data in HPRD (count: 18)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SYNJ1	CDK5	NO	in vitro	14704270
SYNJ1	SH3GL2	NO	in vitro;in vivo;yeast 2-hybrid	9341169 , 10542231 , 11292345 , 9238017
SYNJ1	PACSIN1	NO	in vitro;yeast 2-hybrid	11082044 , 11292345
SYNJ1	GRB2	NO	in vivo	7982917 , 9388224 , 11292345
SYNJ1	EPHB2	NO	in vitro	15821731
SYNJ1	BIN1	NO	in vitro	9341169 , 9195986
SYNJ1	ITSN1	NO	in vitro	10373452
SYNJ1	FNBP4	NO	in vitro	11292345
SYNJ1	SH3GL1	NO	in vitro;in vivo;yeast 2-hybrid	9238017 , 10764144
SYNJ1	SH3KBP1	NO	in vitro;in vivo	12829691
SYNJ1	SH3GLB1	NO	in vivo	14704270
SYNJ1	PACSIN3	NO	in vitro;yeast 2-hybrid	11082044
SYNJ1	PPP3CA	NO	in vitro	14704270
SYNJ1	SH3GL3	NO	in vitro;in vivo;yeast 2-hybrid	9238017 , 10764144
SYNJ1	EPS15	NO	in vitro	9428629
SYNJ1	SORBS2	YES	in vitro	11292345
SYNJ1	SH3BP1	NO	in vivo;yeast 2-hybrid	10764144
SYNJ1	AMPH	NO	in vitro	10542231 , 14704270

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
SYNJ1_intron12_IVS12+15delT,+17delT	insertion/deletion	intron12	1 (0/1/0)
SYNJ1_IVS12+15delT,+17delT	insertion/deletion		1 (0/1/0)
SYNJ1_IVS28-7G/T	point mutation		1 (0/1/0)
SYNJ1_IVS29+14C/T	point mutation		1 (0/1/0)
SYNJ1_K295R	point mutation		1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 21	chr21:0-46709983	1 (0/1/0)
21q22	chr21:30200000-46709983	2 (0/0/2)
21q21.3-qter	chr21:25500000-46709983	1 (0/1/0)
21q21.1-q22.13	chr21:15000000-38300000	1 (0/0/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
17893707	645	Negative

Gene relationship with MDD

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Region: chr21:32628759..32728048 View in gBrowse