Gene Report

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Basic Info

Approved Symbol	SNAP29
Symbol Alias	SNAP-29, CEDNIK
Approved Name	synaptosomal-associated protein, 29kDa
Previous Name	synaptosomal-associated protein, 29kD
Name Alias	soluble 29 kDa NSF attachment protein
Location	22q11.21
Position	chr22:20858983-20891218, 1
External Links	HGNC: 11133 Entrez Gene: 9342 Ensembl: ENSG00000099940 UCSC: uc011ahw.2
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Hu, X.,2010	Haplotype: rs10123629 - rs165596(), rs10123629 - rs178069(), rs10124883 - rs165596(), rs10124883 - rs178069()	Our results indicate that interactions between neurological pathway-related genes ASTN2 and SNAP29 or ASTN2 and PIK4CA, or other genes in linkage disequilibrium with any genes in these pairs, were risk factors of BPD, in both Caucasian and Chinese Han populations.	Positive	Comment on Study
Fallin, M. D.,2005		4 SNP typed, Median D'=1, Median r<sup>2</sup> =0.98, 1 LD blocks, 0.98 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study
Saito, T.,2001	Other variant: SNAP29_exon1_56T>C, SNAP29_exon1_92A>G, SNAP29_promoter_-849G>A	No significant difference was found in patients with BPD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045202	synapse	cellular component	IEA	29
GO:0005886	plasma membrane	cellular component	TAS[9852078]	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000046	autophagic vacuole fusion	biological process	IMP[23217709]	2
GO:0043005	neuron projection	cellular component	IEA	38
GO:0031201	SNARE complex	cellular component	IDA[23217709]	8
GO:0030054	cell junction	cellular component	IEA	88
GO:0006903	vesicle targeting	biological process	TAS[9852078]	1
GO:0061025	membrane fusion	biological process	TAS[10839363]	6
GO:0019905	syntaxin binding	molecular function	IBA	5
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0016082	synaptic vesicle priming	biological process	IBA	3
GO:0015031	protein transport	biological process	IEA	21
GO:0005813	centrosome	cellular component	IDA	34
GO:0006887	exocytosis	biological process	TAS[10839363]	6
GO:0031629	synaptic vesicle fusion to presynaptic membrane	biological process	IBA	2
GO:0005484	SNAP receptor activity	molecular function	TAS[10839363]	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04130	SNARE interactions in vesicular transport	7

Gene related BioCarta pathways (count: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SNAP29	STX17	NO	in vitro	9852078
SNAP29	EHD3	NO	yeast 2-hybrid	11423532
SNAP29	STX3	NO	in vitro;yeast 2-hybrid	9852078
SNAP29	STX6	NO	in vitro;in vivo	11423532 , 9880331
SNAP29	VAMP7	YES	in vivo;yeast 2-hybrid	12853575
SNAP29	STX1A	NO	in vitro;yeast 2-hybrid	9852078
SNAP29	STX7	NO	in vitro	9852078 , 11423532
SNAP29	AP2A1	NO	in vitro;in vivo	11423532
SNAP29	C1orf190	NO	yeast 2-hybrid	16189514
SNAP29	STX12	YES	in vitro	9852078
SNAP29	CD7	NO	in vivo	11423532 , 9852078
SNAP29	EHD1	NO	in vitro;in vivo;yeast 2-hybrid	11423532 , 15371016

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_307	chr22:19046936-19795835 (Affymetrix SNP 6.0 array reference genome)	748899		Singleton deletions
CNV_Lyudmila Georgieva[2014]_15	chr22:21069073-21608479 (UCSC build 37, hg19)	539406	22q11.21	deletion

Gene related other variants (count: 3)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
SNAP29_promoter_-849G>A	point mutation	promoter	1 (0/1/0)
SNAP29_exon1_92A>G	point mutation	exon1	1 (0/1/0)
SNAP29_exon1_56T>C	point mutation	exon1	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative
11317222	These data suggest that a mutation in the SNAP29 gene promoter region, or a mutation in linkage disequilibrium with the promoter SNP, may be involved in the pathogenesis of chromosome 22-linked SZ.	Positive

Gene relationship with MDD

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Region: chr22:20858983..20891218 View in gBrowse