Gene Report

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Basic Info

Approved Symbol	PRIM2
Previous Symbol	PRIM2A
Approved Name	primase, DNA, polypeptide 2 (58kDa)
Previous Name	primase, polypeptide 2A (58kD), "primase, polypeptide 2A, 58kDa"
Location	6p12-p11.1
Position	chr6:57314805-57646849, 1
External Links	HGNC: 9370 Entrez Gene: 5558 Ensembl: ENSG00000146143 UCSC: uc032wzb.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0006271	DNA strand elongation involved in DNA replication	biological process	TAS	2
GO:0051539	4 iron, 4 sulfur cluster binding	molecular function	IEA	1
GO:0032201	telomere maintenance via semi-conservative replication	biological process	TAS	3
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0000082	G1/S transition of mitotic cell cycle	biological process	TAS	9
GO:0006269	DNA replication, synthesis of RNA primer	biological process	IEA	1
GO:0006270	DNA replication initiation	biological process	TAS	2
GO:0000723	telomere maintenance	biological process	TAS	4
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0000722	telomere maintenance via recombination	biological process	TAS	3
GO:1990077	primosome complex	cellular component	IEA	1
GO:0003896	DNA primase activity	molecular function	IEA	1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00230	Purine metabolism	12

ID	Name	No. of Genes in BDgene	Brief Description
hsa03030	DNA replication	3
hsa00240	Pyrimidine metabolism	5

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: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_McQuillin[2011]_10	chr6:57290380-57621335 (NCBI Build 36 (hg18))	330956

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6p12-q13	chr6:46200000-75200000	1 (0/1/0)
Chr 6	chr6:0-170805979	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:57314805..57646849 View in gBrowse