Gene Report

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Basic Info

Approved Symbol	SIVA1
Symbol Alias	SIVA, Siva-1, Siva-2, CD27BP
Approved Name	SIVA1, apoptosis-inducing factor
Location	14q32.33
Position	chr14:104753100-104768494, 1
External Links	HGNC: 17712 Entrez Gene: 10572 Ensembl: ENSG00000184990 UCSC: uc001yph.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gonzalez, S., 2014	SNP: rs1132975	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005737	cytoplasm	cellular component	IDA[12011449]; IEA	322
GO:0046718	viral entry into host cell	biological process	ISS	3
GO:0008270	zinc ion binding	molecular function	IDA[16683188]	77
GO:0005739	mitochondrion	cellular component	IDA[12011449]	75
GO:0032088	negative regulation of NF-kappaB transcription factor activity	biological process	IDA[16491128]	6
GO:0046872	metal ion binding	molecular function	IEA	115
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	biological process	IDA[15034012]	2
GO:0006924	activation-induced cell death of T cells	biological process	IDA[16491128]	2
GO:0097191	extrinsic apoptotic signaling pathway	biological process	IDA[9177220]	5
GO:0097193	intrinsic apoptotic signaling pathway	biological process	IDA[12011449]; IDA[12011449]	8
GO:0005175	CD27 receptor binding	molecular function	IPI[16683188]	1
GO:0005515	protein binding	molecular function	IPI[12011449]	563
GO:0001618	virus receptor activity	molecular function	ISS	3
GO:0005654	nucleoplasm	cellular component	IDA[15034012]	163

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SIVA1	GRINL1A	NO	yeast 2-hybrid	16169070
SIVA1	BCL2L1	NO	in vitro;in vivo	12011449
SIVA1	ABL2	NO	in vitro	11278261
SIVA1	TNFRSF4	NO	in vitro	12478477
SIVA1	CD27	NO	in vitro;yeast 2-hybrid	9177220

Related other genetic factors

Gene related SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2498804	chr14:104766758 - 104766758(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	2(2/0/0)
rs2494732	chr14:104772855 - 104772855(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	2(1/1/0)
rs1132975	chr14:104755700 - 104755700(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs2494730	chr14:104767084 - 104767084(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs4983549	chr14:104761879 - 104761879(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs2494731	chr14:104771343 - 104771343(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2498802	chr14:104768105 - 104768105(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q32	chr14:89300000-107043718	1 (0/1/0)
Chr 14	chr14:0-107043718	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:104753100..104768494 View in gBrowse