Gene Report

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Basic Info

Approved Symbol	RSRC2
Symbol Alias	FLJ11021
Approved Name	arginine/serine-rich coiled-coil 2
Location	12q24.31
Position	chr12:122503458-122527000, -1
External Links	HGNC: 30559 Entrez Gene: 65117 Ensembl: ENSG00000111011 UCSC: uc001ucr.3
No. of Studies	2 (Positive: 1; Negative: 1; 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
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00439, Product of P truncation <=0.01=0.00015, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study
Shink, E.,2005(a)	Other variant: FLJ11021_GC6E04A	We found no polymorphisms associated with bipolar disorder in this gene.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0044822	poly(A) RNA binding	molecular function	IDA[22681889]	44

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RSRC2	UBQLN4	NO	yeast 2-hybrid	16713569

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
FLJ11021_GC6E04A	point mutation		1 (0/1/0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Gene relationship with MDD

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Region: chr12:122503458..122527000 View in gBrowse