Gene Report

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Basic Info

Approved Symbol	XIRP2
Previous Symbol	CMYA3
Approved Name	xin actin-binding repeat containing 2
Previous Name	cardiomyopathy associated 3
Name Alias	myomaxin
Location	2q31.1
Position	chr2:166888487-167259753, 1
External Links	HGNC: 14303 Entrez Gene: 129446 Ensembl: ENSG00000163092 UCSC: uc002udx.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
Strauss, K. A., 2014	SNP: rs75758327	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003779	actin binding	molecular function	IEA	24

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IEA	88
GO:0045216	cell-cell junction organization	biological process	IEA	8
GO:0003281	ventricular septum development	biological process	IEA	3
GO:0030018	Z disc	cellular component	IEA	16
GO:0051393	alpha-actinin binding	molecular function	IEA	4
GO:0055008	cardiac muscle tissue morphogenesis	biological process	IEA	1
GO:0030036	actin cytoskeleton organization	biological process	IEA	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs75758327	chr2:167259287 - 167259287(1)	3_prime_UTR_variant; missense_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q24.3	chr2:162900000-168900000	1 (0/0/1)
2q24	chr2:154000000-168900000	4 (0/3/1)
2q21-q33	chr2:129100000-208200000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)
2q24-33	chr2:154000000-208200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr2:166888487..167259753 View in gBrowse