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	MAPT
Previous Symbol	DDPAC, MAPTL
Symbol Alias	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549
Approved Name	microtubule-associated protein tau
Name Alias	G protein beta1/gamma2 subunit-interacting factor 1, "microtubule-associated protein tau, isoform 4"
Location	17q21
Position	chr17:43971748-44105700, +
External Links	HGNC: 6893 Entrez Gene: 4137 Ensembl: ENSG00000186868 UCSC: uc010dau.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 65)

Literature-origin SNPs (count: 0)

LD-proxies (count: 65)

rs_ID	Location	Functional Annotation
rs17572627	Chr17:44058629(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651483	Chr17:44058861(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651549	Chr17:44061278(Fwd)	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs1529534	Chr17:44063140(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17572795	Chr17:44063393(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17572823	Chr17:44063563(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17572851	Chr17:44063766(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17572893	Chr17:44064208(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2217394	Chr17:44053448(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs17651285	Chr17:44054237(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs17572467	Chr17:44054388(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs17572495	Chr17:44054596(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs754512	Chr17:44055647(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; stop_gained; upstream_gene_variant
rs1981997	Chr17:44056767(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs1981998	Chr17:44056833(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs17572613	Chr17:44058004(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651093	Chr17:44049550(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651134	Chr17:44050340(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17572248	Chr17:44049867(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651213	Chr17:44051924(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1800547	Chr17:44051846(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17651243	Chr17:44052284(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17572361	Chr17:44052009(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12150515	Chr17:44090685(Fwd)	intron_variant; nc_transcript_variant
rs12150170	Chr17:44090646(Fwd)	intron_variant; nc_transcript_variant
rs12150506	Chr17:44090536(Fwd)	intron_variant; nc_transcript_variant
rs733966	Chr17:44089563(Fwd)	intron_variant; nc_transcript_variant
rs17652449	Chr17:44088937(Fwd)	intron_variant; nc_transcript_variant
rs1991556	Chr17:44083402(Fwd)	intron_variant; nc_transcript_variant
rs17652337	Chr17:44083323(Fwd)	intron_variant; nc_transcript_variant
rs17573607	Chr17:44083081(Fwd)	intron_variant; nc_transcript_variant
rs7687	Chr17:44103296(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs16940799	Chr17:44102933(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs17574040	Chr17:44102865(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1052594	Chr17:44102689(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1052587	Chr17:44102604(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs9468	Chr17:44101563(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs17652502	Chr17:44094471(Fwd)	intron_variant; nc_transcript_variant
rs17573858	Chr17:44090796(Fwd)	intron_variant; nc_transcript_variant
rs10445338	Chr17:44067682(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1052551	Chr17:44068924(Fwd)	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant
rs10445337	Chr17:44067400(Fwd)	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant
rs17651754	Chr17:44067546(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs919464	Chr17:44065901(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17651700	Chr17:44066634(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1529535	Chr17:44064759(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10445371	Chr17:44065410(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs8070723	Chr17:44081064(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17573593	Chr17:44082603(Fwd)	intron_variant; nc_transcript_variant
rs1078269	Chr17:44075837(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1078268	Chr17:44075901(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1052553	Chr17:44073889(Fwd)	nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs17652121	Chr17:44073973(Fwd)	nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs17573175	Chr17:44071089(Fwd)	intron_variant; nc_transcript_variant
rs17652036	Chr17:44073027(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs17574361	Chr17:44108202(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs17652961	Chr17:44108355(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs17574425	Chr17:44109188(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs1076222	Chr17:44109769(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs17652748	Chr17:44103616(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs2158257	Chr17:44104343(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs17574228	Chr17:44104509(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs7350928	Chr17:44108100(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs7350980	Chr17:44110271(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4597358	Chr17:44110670(Fwd)	downstream_gene_variant; 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: 32)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051493	regulation of cytoskeleton organization	Biological Process		32
GO:0000226	microtubule cytoskeleton organization	Biological Process	IDA[1057175]	39

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0071813	lipoprotein particle binding	Molecular Function	IPI[7972031]	2
GO:0060632	regulation of microtubule-based movement	Biological Process		1
GO:0005200	structural constituent of cytoskeleton	Molecular Function	TAS[2498079]	14
GO:0001764	neuron migration	Biological Process		21
GO:0005829	cytosol	Cellular Component		447
GO:0005515	protein binding	Molecular Function	IPI[16446437]	910
GO:0005875	microtubule associated complex	Cellular Component	TAS[10747907]	13
GO:0005874	microtubule	Cellular Component		52
GO:0006915	apoptotic process	Biological Process		111
GO:0005886	plasma membrane	Cellular Component	IDA[8522593]	772
GO:0007628	adult walking behavior	Biological Process		8
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	Biological Process		9
GO:0008088	axon cargo transport	Biological Process		2
GO:0008017	microtubule binding	Molecular Function	IDA[1918161]	32
GO:0010506	regulation of autophagy	Biological Process	IGI[19074461]	4
GO:0017124	SH3 domain binding	Molecular Function	IPI[9763511]	22
GO:0019899	enzyme binding	Molecular Function		47
GO:0019901	protein kinase binding	Molecular Function		51
GO:0030424	axon	Cellular Component	IDA[8642405]	35
GO:0030426	growth cone	Cellular Component	IDA[8642405]	20
GO:0031113	regulation of microtubule polymerization	Biological Process	NAS[1057175]	2
GO:0031116	positive regulation of microtubule polymerization	Biological Process	IDA[1421571]	6
GO:0032387	negative regulation of intracellular transport	Biological Process		3
GO:0034185	apolipoprotein binding	Molecular Function	IPI[7566652]	5
GO:0034399	nuclear periphery	Cellular Component	IDA[19157893]	1
GO:0035085	cilium axoneme	Cellular Component		12
GO:0045298	tubulin complex	Cellular Component	IDA[8642405]	1
GO:0045773	positive regulation of axon extension	Biological Process	IDA[1389180]	7
GO:0047497	mitochondrion transport along microtubule	Biological Process		4
GO:0048699	generation of neurons	Biological Process	NAS[8522593]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with MAPT (count: 28)

Gene Symbol	Pathway Count	Pathway List
APC	10	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; protein binding; apoptotic process; plasma membrane; cellular component disassembly involved in execution phase of apoptosis; microtubule binding; protein kinase binding; positive regulation of microtubule polymerization;
MAP1S	8	microtubule cytoskeleton organization; cytosol; protein binding; microtubule associated complex; microtubule; apoptotic process; microtubule binding; mitochondrion transport along microtubule;
PAFAH1B1	8	microtubule cytoskeleton organization; neuron migration; cytosol; protein binding; microtubule associated complex; microtubule binding; growth cone; positive regulation of axon extension;
MAP1B	8	cytosol; protein binding; microtubule associated complex; microtubule; plasma membrane; negative regulation of intracellular transport; positive regulation of axon extension; mitochondrion transport along microtubule;
ARHGEF2	7	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; protein binding; microtubule; apoptotic process; microtubule binding;
KATNB1	7	regulation of cytoskeleton organization; microtubule cytoskeleton organization; microtubule; plasma membrane; microtubule binding; axon; growth cone;
PAK1	7	cytosol; protein binding; apoptotic process; plasma membrane; protein kinase binding; axon; growth cone;
CLASP2	6	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; protein binding; microtubule; plasma membrane;
CDK5RAP2	6	microtubule cytoskeleton organization; cytosol; protein binding; microtubule; microtubule binding; protein kinase binding;
ILK	6	cytosol; protein binding; plasma membrane; SH3 domain binding; protein kinase binding; positive regulation of axon extension;
SNCA	6	cytosol; protein binding; plasma membrane; microtubule binding; axon; growth cone;
CCDC88A	5	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; plasma membrane; microtubule binding;
CLASP1	5	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; protein binding; microtubule binding;
GSN	5	regulation of cytoskeleton organization; cytosol; protein binding; apoptotic process; cellular component disassembly involved in execution phase of apoptosis;
MAPRE1	5	regulation of cytoskeleton organization; microtubule cytoskeleton organization; cytosol; protein binding; microtubule;
CENPJ	5	microtubule cytoskeleton organization; cytosol; protein binding; microtubule; protein kinase binding;
KIF11	5	microtubule cytoskeleton organization; cytosol; microtubule; microtubule binding; protein kinase binding;
KIF23	5	microtubule cytoskeleton organization; cytosol; protein binding; microtubule; microtubule binding;
PRC1	5	microtubule cytoskeleton organization; protein binding; plasma membrane; microtubule binding; protein kinase binding;
TPPP	5	microtubule cytoskeleton organization; protein binding; microtubule; plasma membrane; microtubule binding;
APBB1	5	neuron migration; protein binding; apoptotic process; plasma membrane; growth cone;
NDE1	5	neuron migration; cytosol; protein binding; microtubule; microtubule binding;
BCAR1	5	cytosol; protein binding; plasma membrane; SH3 domain binding; protein kinase binding;
CRYAB	5	cytosol; protein binding; plasma membrane; microtubule binding; negative regulation of intracellular transport;
GSK3B	5	cytosol; protein binding; plasma membrane; protein kinase binding; growth cone;
THY1	5	cytosol; protein binding; plasma membrane; protein kinase binding; growth cone;
TJP1	5	cytosol; protein binding; apoptotic process; plasma membrane; cellular component disassembly involved in execution phase of apoptosis;
WWOX	5	cytosol; protein binding; apoptotic process; plasma membrane; enzyme binding;

Genes shared at least 2 KEGG pathways with MAPT (count: 7)

Gene Symbol	Pathway Count	Pathway List
CACNA1C	2	Alzheimer's disease; MAPK signaling pathway;
CACNA1D	2	Alzheimer's disease; MAPK signaling pathway;
CACNA1F	2	Alzheimer's disease; MAPK signaling pathway;
CACNA1S	2	Alzheimer's disease; MAPK signaling pathway;
MAPK1	2	Alzheimer's disease; MAPK signaling pathway;
MAPK3	2	Alzheimer's disease; MAPK signaling pathway;
PPP3R2	2	Alzheimer's disease; MAPK signaling pathway;

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Region: chr17:43971748..44105700 View in gBrowse