ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SH2B3
Symbol Alias	LNK, IDDM20
Approved Name	SH2B adaptor protein 3
Name Alias	lymphocyte adaptor protein
Location	12q24.12
Position	chr12:111843752-111889427, +
External Links	HGNC: 29605 Entrez Gene: 10019 Ensembl: ENSG00000111252 UCSC: uc001tse.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 14)

rs_ID	Location	Functional Annotation
rs739496	Chr12:111887659(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs10849949	Chr12:111893537(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2283358	Chr12:111865565(Fwd)	intron_variant; nc_transcript_variant
rs7296313	Chr12:111878526(Fwd)	intron_variant; nc_transcript_variant
rs2239195	Chr12:111881309(Fwd)	intron_variant; nc_transcript_variant
rs2238154	Chr12:111882485(Fwd)	intron_variant; nc_transcript_variant
rs2073950	Chr12:111894072(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2239194	Chr12:111883779(Fwd)	downstream_gene_variant; intron_variant
rs11065898	Chr12:111862575(Fwd)	intron_variant; nc_transcript_variant
rs4766577	Chr12:111894287(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2239197	Chr12:111892685(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs10849947	Chr12:111864684(Fwd)	intron_variant; nc_transcript_variant
rs12580300	Chr12:111849271(Fwd)	intron_variant
rs3742003	Chr12:111844218(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

ID	Name	Type	No. of Genes in ADHDgene
GO:0004871	signal transducer activity	Molecular Function	49
GO:0005829	cytosol	Cellular Component	447
GO:0005543	phospholipid binding	Molecular Function	61
GO:0030154	cell differentiation	Biological Process	51
GO:0007596	blood coagulation	Biological Process	83
GO:0035162	embryonic hemopoiesis	Biological Process	4
GO:0032403	protein complex binding	Molecular Function	27
GO:0042301	phosphate ion binding	Molecular Function	3
GO:0035556	intracellular signal transduction	Biological Process	44

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04722	Neurotrophin signaling pathway	24	Neurotrophins are a family of trophic factors involved in di...... Neurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic factor (BDNF), neurotrophin 3 (NT-3), and neurotrophin 4 (NT-4). Neurotrophins exert their functions through engagement of Trk tyrosine kinase receptors or p75 neurotrophin receptor (p75NTR). Neurotrophin/Trk signaling is regulated by connecting a variety of intracellular signaling cascades, which include MAPK pathway, PI-3 kinase pathway, and PLC pathway, transmitting positive signals like enhanced survival and growth. On the other hand, p75NTR transmits both positive and nagative signals. These signals play an important role for neural development and additional higher-order activities such as learning and memory. More...

Genes shared at least 5 GO terms with SH2B3 (count: 0)

Genes shared at least 2 KEGG pathways with SH2B3 (count: 0)

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Region: chr12:111843752..111889427 View in gBrowse