Gene Report

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Basic Info

Approved Symbol	MAGI1
Previous Symbol	BAIAP1
Symbol Alias	BAP1, MAGI-1, TNRC19, AIP3, WWP3
Approved Name	membrane associated guanylate kinase, WW and PDZ domain containing 1
Previous Name	BAI1-associated protein 1
Location	3p14.1
Position	chr3:65353525-66038834, -1
External Links	HGNC: 946 Entrez Gene: 9223 Ensembl: ENSG00000151276 UCSC: uc003dmn.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Karlsson, R.,2012		Results presented herein provide further evidence for a role of MAGI1 in BPAD and SZ etiology.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0007155	cell adhesion	biological process	TAS[9647739]	42

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IDA	88
GO:0005737	cytoplasm	cellular component	IDA[16464232]	322
GO:0008022	protein C-terminus binding	molecular function	TAS[9647739]	21
GO:0005911	cell-cell junction	cellular component	TAS[9647739]	16
GO:0042995	cell projection	cellular component	IDA[16464232]	9
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0051393	alpha-actinin binding	molecular function	IPI[16464232]	4
GO:0006461	protein complex assembly	biological process	NAS[9647739]	11
GO:0007166	cell surface receptor signaling pathway	biological process	TAS[9647739]	23
GO:0070997	neuron death	biological process	IMP[22166940]	2
GO:0005524	ATP binding	molecular function	IEA	118
GO:0005515	protein binding	molecular function	IPI[11168587]	563
GO:0032947	protein complex scaffold	molecular function	IEA	5
GO:0005923	tight junction	cellular component	IEA	13

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04530	Tight junction	18

ID	Name	No. of Genes in BDgene	Brief Description
hsa05050	Dentatorubropallidoluysian atrophy (DRPLA)	4

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 20)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MAGI1	RPS6KA1	NO	yeast 2-hybrid	16217014
MAGI1	RASA1	NO	in vitro	9169421
MAGI1	NET1	NO	in vitro;in vivo;yeast 2-hybrid	11350080
MAGI1	AMOT	NO	in vivo	16043488
MAGI1	TFAP2A	NO	in vitro	9169421
MAGI1	RPS6KA3	NO	yeast 2-hybrid	16217014
MAGI1	GBP2	NO	yeast 2-hybrid	16169070
MAGI1	DAG1	NO	in vitro	9169421
MAGI1	CLCN5	NO	in vitro	9169421
MAGI1	ACTN4	NO	in vitro	12042308
MAGI1	RPS6KA2	YES	yeast 2-hybrid	16217014
MAGI1	ATN1	NO	in vitro;yeast 2-hybrid	9647693
MAGI1	ACCN3	NO	in vivo;yeast 2-hybrid	15317815
MAGI1	CTNNB1	NO	in vitro;in vivo;yeast 2-hybrid	10772923
MAGI1	TP53BP2	NO	in vitro	9169421
MAGI1	SYNPO	NO	in vitro;in vivo	12042308
MAGI1	IGSF5	NO	in vitro;in vivo;yeast 2-hybrid	12773569
MAGI1	BAI1	NO	in vitro;in vivo;yeast 2-hybrid	9647739
MAGI1	IL6R	NO	in vitro	9169421
MAGI1	LRP2	NO	in vitro;yeast 2-hybrid	11274227

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 12)

ID	Location	Size	Band	Type
CNV_Karlsson[2012]_8	chr3:65649762-65848146 (NCBI Build 36 (hg18))	198385	3p14.1	deletion
CNV_Karlsson[2012]_7	chr3:65649762-65848146 (NCBI Build 36 (hg18))	198385	3p14.1	deletion
CNV_Karlsson[2012]_4	chr3:65649762-65844632 (NCBI Build 36 (hg18))	194871	3p14.1	deletion
CNV_Karlsson[2012]_9	chr3:65649762-65848146 (NCBI Build 36 (hg18))	198385	3p14.1	deletion
CNV_Karlsson[2012]_6	chr3:65649762-65844632 (NCBI Build 36 (hg18))	194871	3p14.1	deletion
CNV_Karlsson[2012]_5	chr3:65649762-65844632 (NCBI Build 36 (hg18))	194871	3p14.1	deletion
CNV_Karlsson[2012]_10	chr3:65877457-66036767 (NCBI Build 36 (hg18))	159311	3p14.1	duplication
CNV_Zhang[2009]_63	chr3:65647659-65852131 (Affymetrix SNP 6.0 array reference genome)	204472		Singleton deletions
CNV_Karlsson[2012]_11	chr3:65877457-66044938 (NCBI Build 36 (hg18))	167482	3p14.1	duplication
CNV_Karlsson[2012]_3	chr3:65613912-65720475 (NCBI Build 36 (hg18))	106564	3p14.1	deletion
CNV_Karlsson[2012]_1	chr3:65605799-65740321 (NCBI Build 36 (hg18))	134523	3p14.1	duplication
CNV_Karlsson[2012]_2	chr3:65612265-65716365 (NCBI Build 36 (hg18))	104101	3p14.1	duplication

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p14.1	chr3:63800000-69700000	2 (0/0/2)

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

Gene relationship with SZ

Reference	Description	Result Category
22381734	Results presented herein provide further evidence for a role of MAGI1 in BPAD and SZ etiology.	Positive

Reference	ID in SZGene	Result Category
17579610	500	Positive

Gene relationship with MDD

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Region: chr3:65353525..66038834 View in gBrowse