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	DNM1
Previous Symbol	DNM
Approved Name	dynamin 1
Location	9q34
Position	chr9:130965658-131017527, +
External Links	HGNC: 2972 Entrez Gene: 1759 Ensembl: ENSG00000106976 UCSC: uc011mau.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2502731	Chr9:130976557(Fwd)	intron_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs13285411	Chr9:130997868(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs2502728	Chr9:130973058(Fwd)	intron_variant
rs3003608	Chr9:130984430(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs16930313	Chr9:130993397(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs9644916	Chr9:130998850(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs3003602	Chr9:130981064(Fwd)	intron_variant; nc_transcript_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: 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:0031623	receptor internalization	Biological Process		10
GO:0032403	protein complex binding	Molecular Function		27
GO:0008022	protein C-terminus binding	Molecular Function		32
GO:0030117	membrane coat	Cellular Component		1
GO:0042802	identical protein binding	Molecular Function		70
GO:0005874	microtubule	Cellular Component		52
GO:0005543	phospholipid binding	Molecular Function		61
GO:0005525	GTP binding	Molecular Function		53
GO:0005515	protein binding	Molecular Function		910
GO:0007032	endosome organization	Biological Process	IMP[19706678]	7
GO:0006898	receptor-mediated endocytosis	Biological Process	IMP[10521508]	11
GO:0006897	endocytosis	Biological Process	IMP[19706678]	23
GO:0006184	GTP catabolic process	Biological Process	TAS[10944110]	22
GO:0003924	GTPase activity	Molecular Function		41

Gene related KEGG pathways (count: 4)

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...
hsa05100	Bacterial invasion of epithelial cells	19	Many pathogenic bacteria can invade phagocytic and non-phago...... Many pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-phagocytic host cells (e.g. epithelial cells) using two mechanisms referred to as zipper model and trigger model. Listeria, Staphylococcus, Streptococcus, and Yersinia are examples of bacteria that enter using the zipper model. These bacteria express proteins on their surfaces that interact with cellular receptors, initiating signalling cascades that result in close apposition of the cellular membrane around the entering bacteria. Shigella and Salmonella are the examples of bacteria entering cells using the trigger model. These bacteria use type III secretion systems to inject protein effectors that interact with the actin cytoskeleton. More...
hsa04666	Fc gamma R-mediated phagocytosis	28	Phagocytosis plays an essential role in host-defense mechani...... Phagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes take part in this process in higher organisms. After opsonization with antibodies (IgG), foreign extracellular materials are recognized by Fc gamma receptors. Cross-linking of Fc gamma receptors initiates a variety of signals mediated by tyrosine phosphorylation of multiple proteins, which lead through the actin cytoskeleton rearrangements and membrane remodeling to the formation of phagosomes. Nascent phagosomes undergo a process of maturation that involves fusion with lysosomes. The acquisition of lysosomal proteases and release of reactive oxygen species are crucial for digestion of engulfed materials in phagosomes. More...
hsa04961	Endocrine and other factor-regulated calcium reabsorption	8	Calcium (Ca2+) is essential for numerous physiological funct...... Calcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis is finely maintained through the coordination of intestinal absorption, renal reabsorption, and bone resorption. In kidney, the late part of the distal convoluted tubule (DCT) and the connecting tubule (CNT) are the site of active Ca2+ transport and precisely regulate Ca2+ reabsorption. Following Ca2+ entry through TRPV5, Ca2+ bound to calbindin-D28K diffuses to the basolateral side, where it is extruded into the blood compartment through NCX1 and to a lesser extent PMCA1b. In the urinary compartment, both klotho and tissue kallikrein (TK) increase the apical abundance of TRPV5. In the blood compartment, PTH, 1,25(OH)2D3 and estrogen increase the transcription and protein expression of the luminal Ca2+ channels, calbindins, and the extrusion systems. More...

Genes shared at least 5 GO terms with DNM1 (count: 0)

Genes shared at least 2 KEGG pathways with DNM1 (count: 15)

Gene Symbol	Pathway Count	Pathway List
CLTCL1	3	Endocytosis; Bacterial invasion of epithelial cells; Endocrine and other factor-regulated calcium reabsorption;
ARF6	2	Endocytosis; Fc gamma R-mediated phagocytosis;
ASAP2	2	Endocytosis; Fc gamma R-mediated phagocytosis;
CAV3	2	Endocytosis; Bacterial invasion of epithelial cells;
CBL	2	Endocytosis; Bacterial invasion of epithelial cells;
PLD1	2	Endocytosis; Fc gamma R-mediated phagocytosis;
PLD2	2	Endocytosis; Fc gamma R-mediated phagocytosis;
ARPC2	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
ARPC5	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
ARPC5L	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
CRKL	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
PIK3CG	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
PIK3R1	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
WASL	2	Bacterial invasion of epithelial cells; Fc gamma R-mediated phagocytosis;
PRKCB	2	Fc gamma R-mediated phagocytosis; Endocrine and other factor-regulated calcium reabsorption;

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Region: chr9:130965658..131017527 View in gBrowse