Gene Report

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Basic Info

Approved Symbol	SAMSN1
Symbol Alias	NASH1, SASH2, SH3D6B, HACS1, SLy2
Approved Name	SAM domain, SH3 domain and nuclear localization signals 1
Name Alias	nuclear localization signals, SAM and SH3 domain containing 1, "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"
Location	21q11
Position	chr21:14485228-14583402, -1
External Links	HGNC: 10528 Entrez Gene: 64092 Ensembl: ENSG00000155307 UCSC: uc002yjv.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Huang, J.,2010	SNP: rs7280842	No significant association of this gene was observed in 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:0005634	nucleus	cellular component	IDA[11594764]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005829	cytosol	cellular component	IEA	223
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	biological process	ISS	2
GO:0001726	ruffle	cellular component	IEA	10
GO:0001784	phosphotyrosine binding	molecular function	IDA[15381729]	1
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0002820	negative regulation of adaptive immune response	biological process	ISS	1
GO:0050869	negative regulation of B cell activation	biological process	ISS	1

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
SAMSN1	PILRB	NO	in vitro	15381729

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7280842	chr21:14661584 - 14661584(1)	upstream_gene_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 21	chr21:0-46709983	1 (0/1/0)
21q11.2-q21.3	chr21:13000000-30200000	1 (1/0/0)

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

Gene relationship with SZ

Reference	Description	Result Category
20713499	No significant association of this gene was observed in SZ.	Negative

Gene relationship with MDD

Reference	Description	Category in MDD
20713499	No significant association was observed in MDD.	Negative

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Region: chr21:14485228..14583402 View in gBrowse