ADHDgene Database

Gene Report

Basic Info

Approved Symbol	GIT1
Approved Name	G protein-coupled receptor kinase interacting ArfGAP 1
Previous Name	"G protein-coupled receptor kinase interactor 1"
Location	17p11.2
Position	chr17:27900487-27921072, -1
External Links	HGNC: 4272 Entrez Gene: 28964 Ensembl: ENSG00000108262 UCSC: uc002heg.2
No. of Studies	2 (significant: 1; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Won H, 2011	rs550818 associated with ADHD susceptibility after Bonferroni correction for multiple testing which identified a previously unknown involvement of GIT1 in human ADHD	Significant
Salatino-Oliveira, A., 2012	We conclude that rs550818 is not associated with ADHD in this Brazilian sample. More studies are required before concluding that this polymorphism plays a role in ADHD susceptibility.	Non-significant

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs550818	chr17:27901975(Fwd)	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; NMD_transcript_variant	2(1/1/0)

rs_ID	Location	Functional Annotation
rs3115096	chr17:27907486(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs563976	chr17:27905673(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs614334	chr17:27904985(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs565977	chr17:27898828(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs497993	chr17:27895528(Fwd)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; splice_donor_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: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005925	focal adhesion	cellular component	IDA	26
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	biological process	TAS[9826657]	6
GO:0008270	zinc ion binding	molecular function	IEA	367
GO:0032312	regulation of ARF GTPase activity	biological process	IEA	4
GO:0005737	cytoplasm	cellular component	IDA	781
GO:0008060	ARF GTPase activator activity	molecular function	IEA	4
GO:0005515	protein binding	molecular function	IPI	1015

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	14
hsa04810	Regulation of actin cytoskeleton	49

Genes shared at least 5 GO terms with GIT1 (count: 0)

Genes shared at least 2 KEGG pathways with GIT1 (count: 1)

Gene Symbol	Pathway Count	Pathway List
PAK1	2	Epithelial cell signaling in Helicobacter pylori infection; Regulation of actin cytoskeleton;

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Region: chr17:27900487..27921072 View in gBrowse