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	NDUFS3
Symbol Alias	CI-30
Approved Name	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
Previous Name	NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)
Name Alias	complex I 30kDa subunit, "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"
Location	11p11.11
Position	chr11:47586888-47606115, +
External Links	HGNC: 7710 Entrez Gene: 4722 Ensembl: ENSG00000213619 UCSC: uc001nga.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 0)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs4147730	Chr11:47605427(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs10742816	Chr11:47606984(Fwd)	downstream_gene_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:0008137	NADH dehydrogenase (ubiquinone) activity	Molecular Function	NAS[9878551]	8
GO:0006917	induction of apoptosis	Biological Process	IMP[16826196]	31
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	Biological Process	NAS[9878551]	8
GO:0005747	mitochondrial respiratory chain complex I	Cellular Component	IDA[12611891]; NAS[9878551]	7
GO:0031966	mitochondrial membrane	Cellular Component	IDA[17209039]	12
GO:0030308	negative regulation of cell growth	Biological Process	IMP[16826196]	21
GO:0022904	respiratory electron transport chain	Biological Process		15
GO:0009055	electron carrier activity	Molecular Function	NAS[9647766]	18
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0005739	mitochondrion	Cellular Component	NAS[9647766]	183
GO:0005515	protein binding	Molecular Function	IPI[19688755]	910
GO:0003954	NADH dehydrogenase activity	Molecular Function	IMP[11112787]	2
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0072593	reactive oxygen species metabolic process	Biological Process	IMP[16826196]	7

Gene related KEGG pathways (count: 5)

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...
hsa01100	Metabolic pathways	237
hsa00190	Oxidative phosphorylation	20
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...
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 NDUFS3 (count: 9)

Gene Symbol	Pathway Count	Pathway List
NDUFS8	9	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; respiratory electron transport chain; electron carrier activity; mitochondrial inner membrane; mitochondrion; NADH dehydrogenase activity; small molecule metabolic process;
NDUFA8	7	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; respiratory electron transport chain; mitochondrial inner membrane; mitochondrion; small molecule metabolic process;
NDUFAB1	7	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; mitochondrial membrane; respiratory electron transport chain; mitochondrial inner membrane; small molecule metabolic process;
NDUFA5	6	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; respiratory electron transport chain; mitochondrial inner membrane; small molecule metabolic process;
NDUFC2	6	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; respiratory electron transport chain; mitochondrial inner membrane; small molecule metabolic process;
NDUFV1	6	NADH dehydrogenase (ubiquinone) activity; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I; respiratory electron transport chain; mitochondrial inner membrane; small molecule metabolic process;
BNIP3	5	induction of apoptosis; mitochondrial membrane; mitochondrion; protein binding; reactive oxygen species metabolic process;
SDHD	5	respiratory electron transport chain; electron carrier activity; mitochondrial inner membrane; mitochondrion; small molecule metabolic process;
UQCRC2	5	respiratory electron transport chain; mitochondrial inner membrane; mitochondrion; protein binding; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with NDUFS3 (count: 28)

Gene Symbol	Pathway Count	Pathway List
COX4I1	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
COX7B2	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
COX8A	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFA4L2	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFA5	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFA8	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFAB1	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFC2	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFS8	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
NDUFV1	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
SDHD	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
UQCRC2	5	Alzheimer's disease; Metabolic pathways; Oxidative phosphorylation; Huntington's disease; Parkinson's disease;
CYCS	3	Alzheimer's disease; Huntington's disease; Parkinson's disease;
PLCB2	3	Alzheimer's disease; Metabolic pathways; Huntington's disease;
PLCB3	3	Alzheimer's disease; Metabolic pathways; Huntington's disease;
GRIN2B	2	Alzheimer's disease; Huntington's disease;
ITPR1	2	Alzheimer's disease; Huntington's disease;
NOS1	2	Alzheimer's disease; Metabolic pathways;
SNCA	2	Alzheimer's disease; Parkinson's disease;
ATP5L	2	Metabolic pathways; Oxidative phosphorylation;
ATP6V0A2	2	Metabolic pathways; Oxidative phosphorylation;
ATP6V0D2	2	Metabolic pathways; Oxidative phosphorylation;
ATP6V1C2	2	Metabolic pathways; Oxidative phosphorylation;
ATP6V1F	2	Metabolic pathways; Oxidative phosphorylation;
ATP6V1G1	2	Metabolic pathways; Oxidative phosphorylation;
POLR2G	2	Metabolic pathways; Huntington's disease;
TCIRG1	2	Metabolic pathways; Oxidative phosphorylation;
TH	2	Metabolic pathways; Parkinson's disease;

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Region: chr11:47586888..47606115 View in gBrowse