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	DYNC2H1
Previous Symbol	DNCH2
Symbol Alias	hdhc11, DHC2, DHC1b, DYH1B
Approved Name	dynein, cytoplasmic 2, heavy chain 1
Previous Name	dynein, cytoplasmic, heavy polypeptide 2
Location	11q21-q22.1
Position	chr11:102980160-103350591, +
External Links	HGNC: 2962 Entrez Gene: 79659 Ensembl: ENSG00000187240 UCSC: uc001phn.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 51)

Literature-origin SNPs (count: 0)

LD-proxies (count: 51)

rs_ID	Location	Functional Annotation
rs3847580	Chr11:103190128(Fwd)	NMD_transcript_variant; intron_variant
rs313426	Chr11:103209984(Fwd)	NMD_transcript_variant; intron_variant
rs10895406	Chr11:103218413(Fwd)	NMD_transcript_variant; intron_variant
rs2671349	Chr11:103221186(Fwd)	NMD_transcript_variant; intron_variant
rs2671346	Chr11:103223070(Fwd)	NMD_transcript_variant; intron_variant
rs2671345	Chr11:103223100(Fwd)	NMD_transcript_variant; intron_variant
rs2671343	Chr11:103223361(Fwd)	NMD_transcript_variant; intron_variant
rs2256359	Chr11:103224118(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2566918	Chr11:103225343(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2671338	Chr11:103225212(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2256846	Chr11:103227581(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2671336	Chr11:103226749(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2671333	Chr11:103229110(Fwd)	NMD_transcript_variant; intron_variant
rs2566913	Chr11:103229027(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; intron_variant; synonymous_variant
rs2512129	Chr11:103229238(Fwd)	NMD_transcript_variant; intron_variant
rs2514408	Chr11:103229173(Fwd)	NMD_transcript_variant; intron_variant
rs2671331	Chr11:103231515(Fwd)	NMD_transcript_variant; intron_variant
rs2671332	Chr11:103231440(Fwd)	NMD_transcript_variant; intron_variant
rs2671380	Chr11:103248347(Fwd)	NMD_transcript_variant; intron_variant
rs313377	Chr11:103237367(Fwd)	NMD_transcript_variant; intron_variant
rs2671385	Chr11:103250450(Fwd)	NMD_transcript_variant; intron_variant
rs2566944	Chr11:103249337(Fwd)	NMD_transcript_variant; intron_variant
rs2671390	Chr11:103252724(Fwd)	NMD_transcript_variant; intron_variant
rs10895413	Chr11:103251054(Fwd)	NMD_transcript_variant; intron_variant
rs2512137	Chr11:103259879(Fwd)	NMD_transcript_variant; intron_variant
rs3018519	Chr11:103263560(Fwd)	NMD_transcript_variant; intron_variant
rs2671398	Chr11:103256033(Fwd)	NMD_transcript_variant; intron_variant
rs10895414	Chr11:103257036(Fwd)	NMD_transcript_variant; intron_variant
rs2671393	Chr11:103253554(Fwd)	NMD_transcript_variant; intron_variant
rs2671397	Chr11:103255114(Fwd)	NMD_transcript_variant; intron_variant
rs2671391	Chr11:103252989(Fwd)	NMD_transcript_variant; intron_variant
rs7949331	Chr11:103253353(Fwd)	NMD_transcript_variant; intron_variant
rs1709149	Chr11:103280153(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs7950495	Chr11:103281238(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs1709163	Chr11:103278709(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2175888	Chr11:103279597(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs11225769	Chr11:103275673(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs11225774	Chr11:103278048(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs1543114	Chr11:103266744(Fwd)	NMD_transcript_variant; intron_variant
rs7942960	Chr11:103274386(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs542937	Chr11:103318959(Fwd)	NMD_transcript_variant; intron_variant
rs11828719	Chr11:103307709(Fwd)	NMD_transcript_variant; intron_variant
rs11225794	Chr11:103300167(Fwd)	NMD_transcript_variant; intron_variant
rs11225792	Chr11:103299304(Fwd)	NMD_transcript_variant; intron_variant
rs1709151	Chr11:103281304(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs10895436	Chr11:103351280(Fwd)	downstream_gene_variant
rs313877	Chr11:103324985(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs507468	Chr11:103320499(Fwd)	NMD_transcript_variant; intron_variant
rs589523	Chr11:103304381(Fwd)	NMD_transcript_variant; intron_variant
rs11225817	Chr11:103340325(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs313862	Chr11:103334643(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)
11q22	chr11:97200000-110400000	1 (1/0/0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005794	Golgi apparatus	Cellular Component	IDA[8666668]	157
GO:0005829	cytosol	Cellular Component		447
GO:0005874	microtubule	Cellular Component		52
GO:0005886	plasma membrane	Cellular Component		772
GO:0007018	microtubule-based movement	Biological Process		20
GO:0007030	Golgi organization	Biological Process	IDA[8666668]	11
GO:0007368	determination of left/right symmetry	Biological Process		7
GO:0008105	asymmetric protein localization	Biological Process		1
GO:0001539	ciliary or flagellar motility	Biological Process		7
GO:0003774	motor activity	Molecular Function	NAS[8666668]	5
GO:0003777	microtubule motor activity	Molecular Function		17
GO:0005524	ATP binding	Molecular Function		228
GO:0042384	cilium assembly	Biological Process		15
GO:0035085	cilium axoneme	Cellular Component		12
GO:0045177	apical part of cell	Cellular Component		12
GO:0016485	protein processing	Biological Process		8
GO:0009953	dorsal/ventral pattern formation	Biological Process		12
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	Biological Process		14
GO:0016887	ATPase activity	Molecular Function		14
GO:0030326	embryonic limb morphogenesis	Biological Process		8
GO:0030286	dynein complex	Cellular Component		3
GO:0031512	motile primary cilium	Cellular Component		4
GO:0030900	forebrain development	Biological Process		9

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04962	Vasopressin-regulated water reabsorption	6	In the kidney, the antidiuretic hormone vasopressin (AVP) is...... In the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adjusting the urinary water excretion. In normal physiology, AVP is secreted into the circulation by the posterior pituitary gland, in response to an increase in serum osmolality or a decrease in effective circulating volume. When reaching the kidney, AVP binds to V2 receptors on the basolateral surface of the collecting duct epithelium, triggering a G-protein-linked signaling cascade, which leads to water channel aquaporin-2 (AQP2) vesicle insertion into the apical plasma membrane. This results in higher water permeability in the collecting duct and, driven by an osmotic gradient, pro-urinary water then passes the membrane through AQP2 and leaves the cell on the basolateral side via AQP3 and AQP4 water channels, which are constitutively expressed on the basolateral side of these cells. When isotonicity is restored, reduced blood AVP levels results in AQP2 internalization, leaving the apical membrane watertight again. More...
hsa04145	Phagosome	32	Phagocytosis is the process of taking in relatively large pa...... Phagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is formed when the specific receptors on the phagocyte surface recognize ligands on the particle surface. After formation, nascent phagosomes progressively acquire digestive characteristics. This maturation of phagosomes involves regulated interaction with the other membrane organelles, including recycling endosomes, late endosomes and lysosomes. The fusion of phagosomes and lysosomes releases toxic products that kill most bacteria and degrade them into fragments. However, some bacteria have strategies to escape the bactericidal mechanisms associated with phagocytosis and survive within host phagocytes. More...

Genes shared at least 5 GO terms with DYNC2H1 (count: 13)

Gene Symbol	Pathway Count	Pathway List
DNAH11	8	microtubule; microtubule-based movement; determination of left/right symmetry; ciliary or flagellar motility; microtubule motor activity; ATP binding; cilium axoneme; ATPase activity;
DNAH10	7	microtubule; microtubule-based movement; microtubule motor activity; ATP binding; cilium axoneme; ATPase activity; dynein complex;
DNAH3	7	microtubule; microtubule-based movement; ciliary or flagellar motility; microtubule motor activity; ATP binding; cilium axoneme; ATPase activity;
KIF1C	6	Golgi apparatus; microtubule; microtubule-based movement; motor activity; microtubule motor activity; ATP binding;
KIF11	6	cytosol; microtubule; microtubule-based movement; microtubule motor activity; ATP binding; antigen processing and presentation of exogenous peptide antigen via MHC class II;
KIF22	6	cytosol; microtubule; microtubule-based movement; microtubule motor activity; ATP binding; antigen processing and presentation of exogenous peptide antigen via MHC class II;
KIF23	6	cytosol; microtubule; microtubule-based movement; microtubule motor activity; ATP binding; antigen processing and presentation of exogenous peptide antigen via MHC class II;
IFT88	6	determination of left/right symmetry; cilium axoneme; apical part of cell; protein processing; dorsal/ventral pattern formation; motile primary cilium;
PRKD1	5	Golgi apparatus; cytosol; plasma membrane; Golgi organization; ATP binding;
PRKG1	5	Golgi apparatus; cytosol; plasma membrane; ATP binding; forebrain development;
PTCH1	5	Golgi apparatus; plasma membrane; protein processing; dorsal/ventral pattern formation; embryonic limb morphogenesis;
KIF2C	5	cytosol; microtubule-based movement; microtubule motor activity; ATP binding; antigen processing and presentation of exogenous peptide antigen via MHC class II;
KLC2	5	cytosol; microtubule; microtubule-based movement; microtubule motor activity; antigen processing and presentation of exogenous peptide antigen via MHC class II;

Genes shared at least 2 KEGG pathways with DYNC2H1 (count: 0)

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Region: chr11:102980160..103350591 View in gBrowse