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	AMOTL1
Symbol Alias	JEAP
Approved Name	angiomotin like 1
Name Alias	junction-enriched and associated protein
Location	11q21
Position	chr11:94501508-94609918, +
External Links	HGNC: 17811 Entrez Gene: 154810 Ensembl: ENSG00000166025 UCSC: uc001pfb.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 14)

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

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003365	establishment of cell polarity involved in ameboidal cell migration	Biological Process		1
GO:0005515	protein binding	Molecular Function		910
GO:0005737	cytoplasm	Cellular Component		690
GO:0005829	cytosol	Cellular Component		447
GO:0005923	tight junction	Cellular Component	IDA[16019084]	15
GO:0008180	signalosome	Cellular Component	IDA[18850735]	8
GO:0016055	Wnt receptor signaling pathway	Biological Process		20
GO:0016324	apical plasma membrane	Cellular Component		51
GO:0030027	lamellipodium	Cellular Component		27
GO:0030054	cell junction	Cellular Component		77
GO:0031410	cytoplasmic vesicle	Cellular Component		20
GO:0035329	hippo signaling cascade	Biological Process		5
GO:0042802	identical protein binding	Molecular Function	IDA[16019084]	70
GO:0043536	positive regulation of blood vessel endothelial cell migration	Biological Process		3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04530	Tight junction	18	Epithelial tight junctions (TJs) are composed of at least th...... Epithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways. More...

Genes shared at least 5 GO terms with AMOTL1 (count: 6)

Gene Symbol	Pathway Count	Pathway List
TJP1	6	protein binding; cytoplasm; cytosol; tight junction; cell junction; hippo signaling cascade;
APC	5	protein binding; cytoplasm; cytosol; tight junction; lamellipodium;
BAIAP2	5	protein binding; cytoplasm; cytosol; cell junction; identical protein binding;
CTNND1	5	protein binding; cytoplasm; cytosol; Wnt receptor signaling pathway; lamellipodium;
PRKD1	5	protein binding; cytoplasm; cytosol; identical protein binding; positive regulation of blood vessel endothelial cell migration;
SNCA	5	protein binding; cytoplasm; cytosol; cell junction; identical protein binding;

Genes shared at least 2 KEGG pathways with AMOTL1 (count: 0)

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Region: chr11:94501508..94609918 View in gBrowse