ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SH2B1
Symbol Alias	FLJ30542, SH2B
Approved Name	SH2B adaptor protein 1
Name Alias	"SH2-B homolog"
Location	16p11.2
Position	chr16:28857921-28885526, 1
External Links	HGNC: 30417 Entrez Gene: 25970 Ensembl: ENSG00000178188 UCSC: uc002drl.3
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Albayrak O., 2013	No significant association was reported in this study.	Non-significant

Gene related SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7359397	chr16:28885659(Fwd)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs7498665	chr16:28883241(Fwd)	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs11864107	chr16:28885931(Fwd)	downstream_gene_variant; upstream_gene_variant
rs3888190	chr16:28889486(Fwd)	downstream_gene_variant; upstream_gene_variant
rs4788101	chr16:28867804(Fwd)	intron_variant
rs4788102	chr16:28873398(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs7198606	chr16:28875122(Fwd)	5_prime_UTR_variant; intron_variant; upstream_gene_variant
rs8055982	chr16:28881202(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs9972768	chr16:28861734(Fwd)	intron_variant; upstream_gene_variant
rs4788100	chr16:28864673(Fwd)	intron_variant
rs7205323	chr16:28865892(Fwd)	intron_variant
rs7187333	chr16:28865916(Fwd)	intron_variant
rs4788099	chr16:28855727(Fwd)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7187776	chr16:28857645(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; upstream_gene_variant
rs9972693	chr16:28859802(Fwd)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006928	cellular component movement	biological process	IEA	18
GO:0016020	membrane	cellular component	IEA	155
GO:2000278	regulation of DNA biosynthetic process	biological process	IEA	1
GO:0035556	intracellular signal transduction	biological process	IEA	52
GO:0005829	cytosol	cellular component	TAS	485
GO:0005634	nucleus	cellular component	IEA	877
GO:0007596	blood coagulation	biological process	TAS	85
GO:0004871	signal transducer activity	molecular function	IEA	56
GO:0030032	lamellipodium assembly	biological process	IEA	9
GO:0005543	phospholipid binding	molecular function	IEA	66
GO:0045840	positive regulation of mitosis	biological process	IEA	8

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SH2B1 (count: 2)

Gene Symbol	Pathway Count	Pathway List
PLCD4	5	membrane; intracellular signal transduction; nucleus; signal transducer activity; phospholipid binding;
SH2B3	5	intracellular signal transduction; cytosol; blood coagulation; signal transducer activity; phospholipid binding;

Genes shared at least 2 KEGG pathways with SH2B1 (count: 0)

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Region: chr16:28857921..28885526 View in gBrowse