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	ADRA2C
Previous Symbol	ADRA2L2, ADRA2RL2
Symbol Alias	ADRARL2
Approved Name	adrenergic, alpha-2C-, receptor
Location	4p16.3
Position	chr4:3768075-3770253, +
External Links	HGNC: 283 Entrez Gene: 152 Ensembl: ENSG00000184160 UCSC: uc003ghm.2
No. of Studies	7 (significant: 2; non-significant: 4; trend: 1)
Source	Literature-origin; Mapped by literature SNP

Gene related studies (count: 7)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Feng J, 2001	C444T was found to occur in ADHD patients in this mutational analysis	Trend
De Luca V, 2004 (b)	no preferential transmission of any allele of microsatellite polymorphism in ADRA2C	Non-significant
Barr CL, 2001(c)	there was no evidence for biased transmission of any of the alleles of the ADRA2C polymorphism	Non-significant
Guan L, 2009	1 SNP in this gene achieved significance for ADHD and ADHD-C in single SNP association analysis.	Significant
Brookes K, 2006	UNPHASED TDT P-value=0.496, global P-value=0.942, WHAP TDT P_sum P-value=0.972, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Hawi, Z., 2012	This gene did not show significant association with ADHD.	Non-significant
Cho SC, 2008(a)	ADRA2C(GT)n repeat polymorphism is involved in the etiology of ADHD	Significant

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7678463	Chr4:3770952(Fwd)	downstream_gene_variant	1(0/1/0)
rs7682295	Chr4:3765225(Fwd)	upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
ADRA2C_C444T	point mutation		1 (0/0/1)
ADRA2C_upstream_(TG)n	microsatellite	upstream	3 (1/2/0)

Gene related regions (count: 0)

Gene related GO terms (count: 28)

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

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004938	alpha2-adrenergic receptor activity	Molecular Function	IDA[17215105]	3
GO:0005737	cytoplasm	Cellular Component	IDA[16605244]	690
GO:0005515	protein binding	Molecular Function	IPI[16531006]	910
GO:0005886	plasma membrane	Cellular Component		772
GO:0005768	endosome	Cellular Component	TAS[10196213]	27
GO:0006112	energy reserve metabolic process	Biological Process		25
GO:0005887	integral to plasma membrane	Cellular Component	IDA[16605244]	220
GO:0071883	activation of MAPK activity by adrenergic receptor signaling pathway	Biological Process	IDA[17215105]	3
GO:0051930	regulation of sensory perception of pain	Biological Process		4
GO:0070473	negative regulation of uterine smooth muscle contraction	Biological Process		2
GO:0050796	regulation of insulin secretion	Biological Process		22
GO:0051379	epinephrine binding	Molecular Function	IDA[17215105]	5
GO:0046982	protein heterodimerization activity	Molecular Function	IPI[16605244]	68
GO:0045907	positive regulation of vasoconstriction	Biological Process		5
GO:0045666	positive regulation of neuron differentiation	Biological Process	IDA[17215105]	13
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0043679	axon terminus	Cellular Component		6
GO:0042803	protein homodimerization activity	Molecular Function	IDA[16605244]	113
GO:0035625	epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway	Biological Process	IDA[17215105]	4
GO:0032811	negative regulation of epinephrine secretion	Biological Process	NAS[16531006]	3
GO:0032148	activation of protein kinase B activity	Biological Process	IDA[17215105]	6
GO:0031694	alpha-2A adrenergic receptor binding	Molecular Function	IPI[16605244]	3
GO:0030168	platelet activation	Biological Process		38
GO:0010700	negative regulation of norepinephrine secretion	Biological Process	NAS[16531006]; TAS[19477270]	4
GO:0007596	blood coagulation	Biological Process		83
GO:0007565	female pregnancy	Biological Process		14
GO:0007267	cell-cell signaling	Biological Process	TAS[9371698]	38
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	TAS[9371698]	72

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93

Genes shared at least 5 GO terms with ADRA2C (count: 44)

Gene Symbol	Pathway Count	Pathway List
ADRA2A	21	alpha2-adrenergic receptor activity; cytoplasm; protein binding; plasma membrane; energy reserve metabolic process; integral to plasma membrane; activation of MAPK activity by adrenergic receptor signaling pathway; negative regulation of uterine smooth muscle contraction; regulation of insulin secretion; epinephrine binding; protein heterodimerization activity; small molecule metabolic process; protein homodimerization activity; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; negative regulation of epinephrine secretion; activation of protein kinase B activity; platelet activation; negative regulation of norepinephrine secretion; blood coagulation; female pregnancy; G-protein coupled receptor signaling pathway;
ADRA2B	16	alpha2-adrenergic receptor activity; protein binding; plasma membrane; integral to plasma membrane; activation of MAPK activity by adrenergic receptor signaling pathway; epinephrine binding; positive regulation of neuron differentiation; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; negative regulation of epinephrine secretion; activation of protein kinase B activity; platelet activation; negative regulation of norepinephrine secretion; blood coagulation; female pregnancy; cell-cell signaling; G-protein coupled receptor signaling pathway;
ADRB1	7	cytoplasm; protein binding; plasma membrane; integral to plasma membrane; epinephrine binding; protein heterodimerization activity; alpha-2A adrenergic receptor binding;
CCR5	7	cytoplasm; protein binding; plasma membrane; endosome; integral to plasma membrane; cell-cell signaling; G-protein coupled receptor signaling pathway;
PIK3CG	7	cytoplasm; protein binding; plasma membrane; small molecule metabolic process; platelet activation; blood coagulation; G-protein coupled receptor signaling pathway;
INS	7	protein binding; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process; activation of protein kinase B activity; cell-cell signaling; G-protein coupled receptor signaling pathway;
CHRM3	7	plasma membrane; energy reserve metabolic process; integral to plasma membrane; regulation of insulin secretion; small molecule metabolic process; axon terminus; G-protein coupled receptor signaling pathway;
BCAR1	6	cytoplasm; protein binding; plasma membrane; platelet activation; blood coagulation; G-protein coupled receptor signaling pathway;
CACNA1A	6	cytoplasm; protein binding; plasma membrane; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process;
CACNA1C	6	cytoplasm; protein binding; plasma membrane; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process;
FZD4	6	cytoplasm; protein binding; plasma membrane; integral to plasma membrane; protein heterodimerization activity; protein homodimerization activity;
PRKAR2B	6	cytoplasm; plasma membrane; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process; blood coagulation;
SNAP25	6	cytoplasm; protein binding; plasma membrane; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process;
VEGFA	6	cytoplasm; protein binding; protein heterodimerization activity; protein homodimerization activity; platelet activation; blood coagulation;
ADORA2A	6	protein binding; plasma membrane; integral to plasma membrane; protein heterodimerization activity; blood coagulation; cell-cell signaling;
ADRB3	6	protein binding; plasma membrane; energy reserve metabolic process; integral to plasma membrane; epinephrine binding; protein homodimerization activity;
APOA1	6	protein binding; plasma membrane; small molecule metabolic process; platelet activation; blood coagulation; G-protein coupled receptor signaling pathway;
BDKRB2	6	protein binding; plasma membrane; endosome; integral to plasma membrane; protein heterodimerization activity; G-protein coupled receptor signaling pathway;
ITPR1	6	protein binding; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process; platelet activation; blood coagulation;
STX1A	6	protein binding; plasma membrane; energy reserve metabolic process; regulation of insulin secretion; protein heterodimerization activity; small molecule metabolic process;
VAMP2	6	protein binding; plasma membrane; energy reserve metabolic process; integral to plasma membrane; regulation of insulin secretion; small molecule metabolic process;
ADRA1A	6	plasma membrane; integral to plasma membrane; protein heterodimerization activity; positive regulation of vasoconstriction; cell-cell signaling; G-protein coupled receptor signaling pathway;
ITPR2	6	plasma membrane; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process; platelet activation; blood coagulation;
MGLL	6	plasma membrane; regulation of sensory perception of pain; small molecule metabolic process; protein homodimerization activity; platelet activation; blood coagulation;
ADAM17	5	cytoplasm; protein binding; plasma membrane; integral to plasma membrane; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway;
ADCY4	5	cytoplasm; protein binding; plasma membrane; energy reserve metabolic process; small molecule metabolic process;
ARRB1	5	cytoplasm; protein binding; plasma membrane; platelet activation; blood coagulation;
ARRB2	5	cytoplasm; protein binding; plasma membrane; platelet activation; blood coagulation;
DGKH	5	cytoplasm; plasma membrane; endosome; platelet activation; blood coagulation;
HTR4	5	cytoplasm; plasma membrane; endosome; integral to plasma membrane; G-protein coupled receptor signaling pathway;
PDE2A	5	cytoplasm; protein binding; plasma membrane; protein homodimerization activity; blood coagulation;
PRKCB	5	cytoplasm; protein binding; plasma membrane; platelet activation; blood coagulation;
PRKD1	5	cytoplasm; protein binding; plasma membrane; integral to plasma membrane; small molecule metabolic process;
SCARB1	5	cytoplasm; plasma membrane; integral to plasma membrane; small molecule metabolic process; protein homodimerization activity;
STXBP3	5	cytoplasm; protein binding; plasma membrane; platelet activation; blood coagulation;
ABCA1	5	protein binding; plasma membrane; integral to plasma membrane; small molecule metabolic process; G-protein coupled receptor signaling pathway;
ADRB2	5	protein binding; plasma membrane; endosome; integral to plasma membrane; protein homodimerization activity;
F2RL2	5	protein binding; plasma membrane; integral to plasma membrane; platelet activation; blood coagulation;
GP1BB	5	protein binding; plasma membrane; integral to plasma membrane; platelet activation; blood coagulation;
JAM3	5	protein binding; plasma membrane; protein heterodimerization activity; protein homodimerization activity; blood coagulation;
PIK3R1	5	protein binding; plasma membrane; small molecule metabolic process; platelet activation; blood coagulation;
TRPC3	5	protein binding; plasma membrane; integral to plasma membrane; platelet activation; blood coagulation;
VEGFB	5	protein binding; protein heterodimerization activity; protein homodimerization activity; platelet activation; blood coagulation;
ADRA1B	5	plasma membrane; integral to plasma membrane; protein heterodimerization activity; cell-cell signaling; G-protein coupled receptor signaling pathway;

Genes shared at least 2 KEGG pathways with ADRA2C (count: 0)

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Region: chr4:3768075..3770253 View in gBrowse