ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

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	chr17:27900487-27916645, -
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 LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
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
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

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs550818	Chr17:27901975(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant	2(1/1/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs3115096	Chr17:27907486(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_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
rs614334	Chr17:27904985(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
rs565977	Chr17:27898828(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_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)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0032312	regulation of ARF GTPase activity	Biological Process		4
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	Biological Process	TAS[9826657]	5
GO:0005737	cytoplasm	Cellular Component		690
GO:0005925	focal adhesion	Cellular Component		26
GO:0008060	ARF GTPase activator activity	Molecular Function		4
GO:0008270	zinc ion binding	Molecular Function		323
GO:0005515	protein binding	Molecular Function		910

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04144	Endocytosis	39	Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More...
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	16	Two major virulence factors of H. pylori are the vacuolating...... Two major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA). More...
hsa04810	Regulation of actin cytoskeleton	48

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

Genes shared at least 2 KEGG pathways with GIT1 (count: 3)

Gene Symbol	Pathway Count	Pathway List
CXCR1	2	Endocytosis; Epithelial cell signaling in Helicobacter pylori infection;
CXCR2	2	Endocytosis; Epithelial cell signaling in Helicobacter pylori infection;
PAK1	2	Epithelial cell signaling in Helicobacter pylori infection; Regulation of actin cytoskeleton;

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Region: chr17:27900487..27916645 View in gBrowse