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	TH
Symbol Alias	DYT5b
Approved Name	tyrosine hydroxylase
Name Alias	tyrosine 3-monooxygenase
Location	11p15.5
Position	chr11:2185159-2193107, -
External Links	HGNC: 11782 Entrez Gene: 7054 Ensembl: ENSG00000180176 UCSC: uc001lvp.2
No. of Studies	7 (significant: 2; non-significant: 5; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 7)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Payton A, 2001	there was no evidence of preferential transmission of any marker allele for the polymorphism examined in this study	Non-significant
Kirley A, 2002	Nonsignificant trends of association were found for TH, but significant preferential paternal transmission of alleles at TH (allele 2) was found	Significant
Comings DE, 1995	ADHD patient showed no significant differences in the distribution of the five repeat-size alleles compared to controls.	Non-significant
Barr CL, 2000 (b)	no significant difference in the transmission of any of the alleles	Non-significant
Nyman ES, 2007	No evidence of association was seen.	Non-significant
Hawi Z, 2005	paternal versus maternal transmissions, 9 genes combined TDT P-value=0.0019, X²=9.6 (1df), OR=1.56; TDT P-value=0.0016, X²=9.9 when TH was removed in sensitivity analysis	Non-significant
Ribases, M., 2012	rs2070762 in the TH gene showed nominal association in both childhood and adulthood ADHD.	Significant

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2076907	Chr4:9783428(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs362599	Chr20:10291812(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	2(0/2/0)
rs4074905	Chr11:2189185(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2070762	Chr11:2186335(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	2(1/1/0)
rs3842753	Chr11:2181060(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 1)

rs_ID	Location	Functional Annotation
rs7483056	Chr11:2190519(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
TH_intron1_(TCAT)n	microsatellite	intron 1	5 (0/5/0)

Gene related regions (count: 0)

Gene related GO terms (count: 80)

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

GO terms by database search (count: 80)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0071287	cellular response to manganese ion	Biological Process		1
GO:0052314	phytoalexin metabolic process	Biological Process		2
GO:0051602	response to electrical stimulus	Biological Process		3
GO:0051412	response to corticosterone stimulus	Biological Process		5
GO:0071363	cellular response to growth factor stimulus	Biological Process		6
GO:0071333	cellular response to glucose stimulus	Biological Process		8
GO:0071316	cellular response to nicotine	Biological Process		2
GO:0042423	catecholamine biosynthetic process	Biological Process		4
GO:0042462	eye photoreceptor cell development	Biological Process		3
GO:0042418	epinephrine biosynthetic process	Biological Process	IDA[12457228]	2
GO:0042421	norepinephrine biosynthetic process	Biological Process	IDA[12457228]	2
GO:0043005	neuron projection	Cellular Component	IDA[17135716]	35
GO:0043195	terminal bouton	Cellular Component		11
GO:0042745	circadian sleep/wake cycle	Biological Process		2
GO:0042755	eating behavior	Biological Process		7
GO:0043473	pigmentation	Biological Process	TAS[12631248]	4
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0043204	perikaryon	Cellular Component		12
GO:0043434	response to peptide hormone stimulus	Biological Process		9
GO:0046684	response to pyrethroid	Biological Process		3
GO:0048596	embryonic camera-type eye morphogenesis	Biological Process		3
GO:0045471	response to ethanol	Biological Process	IDA[18343820]	17
GO:0045472	response to ether	Biological Process		1
GO:0008198	ferrous iron binding	Molecular Function		5
GO:0008199	ferric iron binding	Molecular Function		2
GO:0008016	regulation of heart contraction	Biological Process		8
GO:0008021	synaptic vesicle	Cellular Component		13
GO:0007617	mating behavior	Biological Process		4
GO:0007626	locomotory behavior	Biological Process		24
GO:0007612	learning	Biological Process		13
GO:0007613	memory	Biological Process		18
GO:0007601	visual perception	Biological Process		30
GO:0007605	sensory perception of sound	Biological Process		31
GO:0006665	sphingolipid metabolic process	Biological Process		16
GO:0007507	heart development	Biological Process		23
GO:0006585	dopamine biosynthetic process from tyrosine	Biological Process	NAS[10907721]	1
GO:0006631	fatty acid metabolic process	Biological Process		15
GO:0005790	smooth endoplasmic reticulum	Cellular Component	IDA[12457228]	2
GO:0005829	cytosol	Cellular Component		447
GO:0005739	mitochondrion	Cellular Component		183
GO:0005737	cytoplasm	Cellular Component	IDA[10907721]	690
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[11943812]	910
GO:0004511	tyrosine 3-monooxygenase activity	Molecular Function	IDA[2896667]	1
GO:0003007	heart morphogenesis	Biological Process	NAS[12113410]	5
GO:0001975	response to amphetamine	Biological Process		16
GO:0001963	synaptic transmission, dopaminergic	Biological Process		7
GO:0001666	response to hypoxia	Biological Process	IDA[17520326]	34
GO:0035690	cellular response to drug	Biological Process		8
GO:0042136	neurotransmitter biosynthetic process	Biological Process		6
GO:0042214	terpene metabolic process	Biological Process		1
GO:0042416	dopamine biosynthetic process	Biological Process	IDA[12457228]	5
GO:0034617	tetrahydrobiopterin binding	Molecular Function		2
GO:0034641	cellular nitrogen compound metabolic process	Biological Process		30
GO:0035176	social behavior	Biological Process		9
GO:0035240	dopamine binding	Molecular Function		8
GO:0032355	response to estradiol stimulus	Biological Process		18
GO:0032496	response to lipopolysaccharide	Biological Process		22
GO:0033076	isoquinoline alkaloid metabolic process	Biological Process		2
GO:0033162	melanosome membrane	Cellular Component	IDA[12631248]	4
GO:0021987	cerebral cortex development	Biological Process		11
GO:0030425	dendrite	Cellular Component		46
GO:0031410	cytoplasmic vesicle	Cellular Component	IDA[12457228]	20
GO:0031667	response to nutrient levels	Biological Process		4
GO:0018963	phthalate metabolic process	Biological Process		1
GO:0016597	amino acid binding	Molecular Function		8
GO:0019904	protein domain specific binding	Molecular Function		40
GO:0019825	oxygen binding	Molecular Function		5
GO:0014823	response to activity	Biological Process		7
GO:0010259	multicellular organismal aging	Biological Process		4
GO:0016137	glycoside metabolic process	Biological Process		1
GO:0015842	synaptic vesicle amine transport	Biological Process		2
GO:0009887	organ morphogenesis	Biological Process		19
GO:0009653	anatomical structure morphogenesis	Biological Process	TAS[7715703]	26
GO:0010043	response to zinc ion	Biological Process		6
GO:0009898	internal side of plasma membrane	Cellular Component	IDA[12457228]	8
GO:0009416	response to light stimulus	Biological Process		7
GO:0009414	response to water deprivation	Biological Process		1
GO:0009651	response to salt stress	Biological Process		3
GO:0009635	response to herbicide	Biological Process		3

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00350	Tyrosine metabolism	15
hsa05012	Parkinson's disease	22	Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More...

Genes shared at least 5 GO terms with TH (count: 76)

Gene Symbol	Pathway Count	Pathway List
DDC	16	phytoalexin metabolic process; cellular response to growth factor stimulus; catecholamine biosynthetic process; small molecule metabolic process; response to pyrethroid; synaptic vesicle; cytosol; protein binding; cellular response to drug; dopamine biosynthetic process; cellular nitrogen compound metabolic process; isoquinoline alkaloid metabolic process; amino acid binding; protein domain specific binding; multicellular organismal aging; synaptic vesicle amine transport;
SNCA	12	terminal bouton; ferrous iron binding; synaptic vesicle; fatty acid metabolic process; cytosol; mitochondrion; cytoplasm; nucleus; protein binding; dopamine biosynthetic process; response to lipopolysaccharide; protein domain specific binding;
DRD2	10	pigmentation; perikaryon; locomotory behavior; protein binding; response to amphetamine; synaptic transmission, dopaminergic; response to hypoxia; dopamine binding; dendrite; response to light stimulus;
DRD3	9	response to ethanol; locomotory behavior; learning; protein binding; response to amphetamine; synaptic transmission, dopaminergic; social behavior; dopamine binding; protein domain specific binding;
TJP1	8	cellular response to glucose stimulus; response to ethanol; cytosol; cytoplasm; nucleus; protein binding; response to lipopolysaccharide; protein domain specific binding;
TXN	8	cellular response to glucose stimulus; small molecule metabolic process; cytosol; mitochondrion; protein binding; cellular response to drug; dendrite; response to activity;
DBH	8	catecholamine biosynthetic process; norepinephrine biosynthetic process; small molecule metabolic process; locomotory behavior; memory; cytoplasm; response to amphetamine; cellular nitrogen compound metabolic process;
SLC18A2	7	response to corticosterone stimulus; terminal bouton; locomotory behavior; response to amphetamine; cellular response to drug; response to zinc ion; response to herbicide;
ARG1	7	neuron projection; small molecule metabolic process; cytosol; cytoplasm; cellular nitrogen compound metabolic process; response to zinc ion; response to herbicide;
SLC6A4	7	neuron projection; memory; cytosol; protein binding; response to hypoxia; social behavior; response to estradiol stimulus;
TPH2	7	neuron projection; small molecule metabolic process; cytosol; cellular nitrogen compound metabolic process; response to nutrient levels; amino acid binding; response to activity;
OXTR	7	eating behavior; response to peptide hormone stimulus; memory; heart development; response to amphetamine; social behavior; response to estradiol stimulus;
MTMR2	7	small molecule metabolic process; synaptic vesicle; cytosol; cytoplasm; nucleus; protein binding; dendrite;
SHMT1	7	small molecule metabolic process; cytosol; mitochondrion; cytoplasm; nucleus; cellular nitrogen compound metabolic process; amino acid binding;
MAPK1	7	perikaryon; cytosol; mitochondrion; cytoplasm; nucleus; protein binding; organ morphogenesis;
SLC6A3	7	response to ethanol; locomotory behavior; cytoplasm; protein binding; neurotransmitter biosynthetic process; dopamine biosynthetic process; dopamine binding;
DRD1	7	mating behavior; memory; nucleus; protein binding; response to amphetamine; synaptic transmission, dopaminergic; dopamine binding;
CRYAB	7	cytosol; mitochondrion; cytoplasm; nucleus; protein binding; response to hypoxia; response to estradiol stimulus;
FOSL1	6	response to corticosterone stimulus; neuron projection; learning; cytosol; nucleus; protein binding;
OXCT1	6	cellular response to glucose stimulus; small molecule metabolic process; response to ethanol; heart development; mitochondrion; response to activity;
BAD	6	cellular response to nicotine; response to ethanol; cytosol; mitochondrion; protein binding; response to estradiol stimulus;
MYO7A	6	eye photoreceptor cell development; visual perception; sensory perception of sound; cytosol; protein binding; protein domain specific binding;
GRIN2B	6	neuron projection; response to ethanol; synaptic vesicle; learning; memory; protein binding;
DRD4	6	terminal bouton; protein binding; response to amphetamine; synaptic transmission, dopaminergic; social behavior; dopamine binding;
COMT	6	small molecule metabolic process; learning; cytosol; mitochondrion; neurotransmitter biosynthetic process; response to lipopolysaccharide;
GSTP1	6	small molecule metabolic process; cytosol; mitochondrion; cytoplasm; nucleus; protein binding;
HAAO	6	small molecule metabolic process; ferrous iron binding; cytosol; cellular nitrogen compound metabolic process; oxygen binding; response to zinc ion;
PPP1CA	6	small molecule metabolic process; perikaryon; cytosol; cytoplasm; nucleus; protein binding;
PRKAR2B	6	small molecule metabolic process; learning; fatty acid metabolic process; cytosol; cytoplasm; protein domain specific binding;
PRKD1	6	small molecule metabolic process; sphingolipid metabolic process; cytosol; cytoplasm; nucleus; protein binding;
PSMC3	6	small molecule metabolic process; cytosol; cytoplasm; nucleus; protein binding; cellular nitrogen compound metabolic process;
ARRB2	6	cytosol; cytoplasm; nucleus; protein binding; cytoplasmic vesicle; protein domain specific binding;
NOS1	6	cytosol; cytoplasm; protein binding; response to hypoxia; neurotransmitter biosynthetic process; tetrahydrobiopterin binding;
PDE2A	6	cytosol; cytoplasm; nucleus; protein binding; cellular response to drug; dendrite;
BNIP3	6	mitochondrion; cytoplasm; nucleus; protein binding; response to hypoxia; dendrite;
NR4A2	6	cytoplasm; nucleus; protein binding; response to amphetamine; response to hypoxia; dopamine biosynthetic process;
CCND1	5	response to corticosterone stimulus; response to ethanol; cytosol; nucleus; protein binding;
CYBA	5	cellular response to glucose stimulus; mitochondrion; protein binding; dendrite; response to nutrient levels;
PNMT	5	catecholamine biosynthetic process; epinephrine biosynthetic process; small molecule metabolic process; cytosol; cellular nitrogen compound metabolic process;
VEGFA	5	eye photoreceptor cell development; cytoplasm; protein binding; heart morphogenesis; response to hypoxia;
BAIAP2	5	neuron projection; cytosol; cytoplasm; nucleus; protein binding;
TPH1	5	neuron projection; small molecule metabolic process; cytosol; cellular nitrogen compound metabolic process; amino acid binding;
ADORA2A	5	eating behavior; locomotory behavior; protein binding; response to amphetamine; synaptic transmission, dopaminergic;
ACHE	5	small molecule metabolic process; nucleus; protein binding; neurotransmitter biosynthetic process; dendrite;
FBP1	5	small molecule metabolic process; cytosol; cytoplasm; protein binding; cellular response to drug;
GLUL	5	small molecule metabolic process; perikaryon; cytosol; mitochondrion; cellular nitrogen compound metabolic process;
HK1	5	small molecule metabolic process; cytosol; mitochondrion; nucleus; protein binding;
PLA2G6	5	small molecule metabolic process; memory; cytosol; mitochondrion; cytoplasm;
TDO2	5	small molecule metabolic process; cytosol; cellular nitrogen compound metabolic process; amino acid binding; oxygen binding;
UCP3	5	small molecule metabolic process; fatty acid metabolic process; mitochondrion; response to hypoxia; response to activity;
CTNND2	5	perikaryon; learning; cytoplasm; nucleus; protein binding;
ADRB1	5	memory; cytoplasm; nucleus; protein binding; dopamine binding;
EYA4	5	visual perception; sensory perception of sound; cytoplasm; nucleus; anatomical structure morphogenesis;
TBX1	5	sensory perception of sound; heart development; nucleus; heart morphogenesis; social behavior;
TCF25	5	heart development; mitochondrion; cytoplasm; nucleus; protein binding;
GHR	5	fatty acid metabolic process; mitochondrion; nucleus; protein binding; response to estradiol stimulus;
ARRB1	5	cytosol; cytoplasm; nucleus; protein binding; cytoplasmic vesicle;
CTNND1	5	cytosol; cytoplasm; nucleus; protein binding; protein domain specific binding;
DCPS	5	cytosol; mitochondrion; cytoplasm; nucleus; protein binding;
EGLN3	5	cytosol; cytoplasm; nucleus; protein binding; response to hypoxia;
GSK3B	5	cytosol; cytoplasm; nucleus; protein binding; organ morphogenesis;
IGF2BP3	5	cytosol; cytoplasm; nucleus; protein binding; anatomical structure morphogenesis;
KARS	5	cytosol; mitochondrion; cytoplasm; nucleus; amino acid binding;
MAPK3	5	cytosol; mitochondrion; nucleus; protein binding; organ morphogenesis;
NCF2	5	cytosol; cytoplasm; protein binding; response to lipopolysaccharide; response to activity;
NCK1	5	cytosol; cytoplasm; nucleus; protein binding; protein domain specific binding;
NEDD4L	5	cytosol; cytoplasm; nucleus; protein binding; response to salt stress;
PAFAH1B1	5	cytosol; cytoplasm; nucleus; protein binding; cerebral cortex development;
PAK1	5	cytosol; cytoplasm; protein binding; response to hypoxia; dendrite;
PARK2	5	cytosol; mitochondrion; cytoplasm; nucleus; protein binding;
PRKAA1	5	cytosol; nucleus; protein binding; response to hypoxia; response to activity;
PYCARD	5	cytosol; mitochondrion; cytoplasm; nucleus; protein binding;
RELA	5	cytosol; cytoplasm; nucleus; protein binding; organ morphogenesis;
SOD3	5	cytosol; mitochondrion; nucleus; protein binding; response to hypoxia;
WWOX	5	cytosol; mitochondrion; cytoplasm; nucleus; protein binding;
STRN3	5	cytoplasm; nucleus; protein binding; response to estradiol stimulus; dendrite;

Genes shared at least 2 KEGG pathways with TH (count: 23)

Gene Symbol	Pathway Count	Pathway List
ALDH3A1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B2	2	Metabolic pathways; Tyrosine metabolism;
COMT	2	Metabolic pathways; Tyrosine metabolism;
COX4I1	2	Metabolic pathways; Parkinson's disease;
COX7B2	2	Metabolic pathways; Parkinson's disease;
COX8A	2	Metabolic pathways; Parkinson's disease;
DBH	2	Metabolic pathways; Tyrosine metabolism;
DDC	2	Metabolic pathways; Tyrosine metabolism;
MAOA	2	Metabolic pathways; Tyrosine metabolism;
MAOB	2	Metabolic pathways; Tyrosine metabolism;
NDUFA4L2	2	Metabolic pathways; Parkinson's disease;
NDUFA5	2	Metabolic pathways; Parkinson's disease;
NDUFA8	2	Metabolic pathways; Parkinson's disease;
NDUFAB1	2	Metabolic pathways; Parkinson's disease;
NDUFC2	2	Metabolic pathways; Parkinson's disease;
NDUFS3	2	Metabolic pathways; Parkinson's disease;
NDUFS8	2	Metabolic pathways; Parkinson's disease;
NDUFV1	2	Metabolic pathways; Parkinson's disease;
PNMT	2	Metabolic pathways; Tyrosine metabolism;
SDHD	2	Metabolic pathways; Parkinson's disease;
TYR	2	Metabolic pathways; Tyrosine metabolism;
UQCRC2	2	Metabolic pathways; Parkinson's disease;

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Region: chr11:2185159..2193107 View in gBrowse