Gene Report

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Basic Info

Approved Symbol	GEMIN2
Previous Symbol	SIP1
Approved Name	gem (nuclear organelle) associated protein 2
Previous Name	survival of motor neuron protein interacting protein 1
Location	14q21.1
Position	chr14:39114223-39136973, 1
External Links	HGNC: 10884 Entrez Gene: 8487 Ensembl: ENSG00000092208 UCSC: uc001wuq.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
Cichon, S.,2011	SNP: rs9322993	No positive signal in this gene was observed for BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008380	RNA splicing	biological process	TAS[9323129]	8
GO:0000375	RNA splicing, via transesterification reactions	biological process	TAS[9323129]	2
GO:0005634	nucleus	cellular component	IDA	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005681	spliceosomal complex	cellular component	IEA	6
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005829	cytosol	cellular component	IDA[18984161]; TAS	223
GO:0032797	SMN complex	cellular component	IDA[18984161]	1
GO:0034660	ncRNA metabolic process	biological process	TAS	2
GO:0005730	nucleolus	cellular component	IDA	28
GO:0006397	mRNA processing	biological process	TAS[9323130]	8
GO:0000245	spliceosomal complex assembly	biological process	IEA	1
GO:0000387	spliceosomal snRNP assembly	biological process	IDA[18984161]; TAS	2
GO:0010467	gene expression	biological process	TAS	41
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0097504	Gemini of coiled bodies	cellular component	IEA	1
GO:0034719	SMN-Sm protein complex	cellular component	IDA[18984161]	1
GO:0005515	protein binding	molecular function	IPI[11714716]	563

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: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9322993	chr14:39136338 - 39136338(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs8011855	chr14:39134831 - 39134831(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11157046	chr14:39129763 - 39129763(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs4902402	chr14:39110424 - 39110424(1)	downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q21	chr14:37400000-50400000	3 (2/0/1)
14q13.2-21.3	chr14:34800000-50400000	1 (0/1/0)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q12-q22.3	chr14:24100000-57600000	1 (1/0/0)
14q13.1-21.1	chr14:32900000-43000000	1 (0/1/0)
14q13.1-q24.1	chr14:32900000-69800000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:39114223..39136973 View in gBrowse