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	ADRB2
Previous Symbol	ADRB2R
Symbol Alias	ADRBR, BAR, B2AR
Approved Name	adrenergic, beta-2-, receptor, surface
Location	5q31-q32
Position	chr5:148206156-148208197, +
External Links	HGNC: 286 Entrez Gene: 154 Ensembl: ENSG00000169252 UCSC: uc003lpr.1
No. of Studies	2 (significant: 1; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Hawi, Z., 2012	This gene did not show significant association with ADHD.	Non-significant
Brookes K, 2006	UNPHASED TDT P-value=0.0127, global P-value=0.094, WHAP TDT P_sum P-value=0.601; OR=1.3, one or more SNPs with nominal P-value<0.05 located in this gene	Significant

Gene related SNPs (count: 12)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1042714	Chr5:148206473(Fwd)	missense_variant	1(0/1/0)
rs1042717	Chr5:148206646(Fwd)	synonymous_variant	1(1/0/0)

LD-proxies (count: 10)

rs_ID	Location	Functional Annotation
rs1042711	Chr5:148206348(Fwd)	5_prime_UTR_variant
rs11168070	Chr5:148205927(Fwd)	upstream_gene_variant
rs1801704	Chr5:148206375(Fwd)	5_prime_UTR_variant
rs1042719	Chr5:148207447(Fwd)	synonymous_variant
rs1042718	Chr5:148206917(Fwd)	synonymous_variant
rs11168066	Chr5:148201255(Fwd)	upstream_gene_variant
rs2053044	Chr5:148205372(Fwd)	upstream_gene_variant
rs2400707	Chr5:148205052(Fwd)	upstream_gene_variant
rs1432622	Chr5:148203762(Fwd)	upstream_gene_variant
rs11959615	Chr5:148201316(Fwd)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 34)

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

GO terms by database search (count: 34)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0050873	brown fat cell differentiation	Biological Process		5
GO:0045986	negative regulation of smooth muscle contraction	Biological Process		2
GO:0051380	norepinephrine binding	Molecular Function	IDA[15123695]	4
GO:0040015	negative regulation of multicellular organism growth	Biological Process		6
GO:0042803	protein homodimerization activity	Molecular Function	IDA[15123695]	113
GO:0031398	positive regulation of protein ubiquitination	Biological Process	IMP[19372219]	8
GO:0031649	heat generation	Biological Process		3
GO:0045453	bone resorption	Biological Process		4
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0043235	receptor complex	Cellular Component	IDA[15123695]	11
GO:0043410	positive regulation of MAPK cascade	Biological Process	IDA[15123695]	17
GO:0008179	adenylate cyclase binding	Molecular Function		1
GO:0008333	endosome to lysosome transport	Biological Process	TAS[9507004]	5
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	Biological Process		8
GO:0007190	activation of adenylate cyclase activity	Biological Process	IDA[15123695]	9
GO:0016324	apical plasma membrane	Cellular Component		51
GO:0030501	positive regulation of bone mineralization	Biological Process		3
GO:0009409	response to cold	Biological Process		8
GO:0015459	potassium channel regulator activity	Molecular Function	IDA[12297500]	7
GO:0005887	integral to plasma membrane	Cellular Component	IDA[12297500]	220
GO:0005886	plasma membrane	Cellular Component	IDA[9235896]	772
GO:0005768	endosome	Cellular Component	TAS[10734107]	27
GO:0005764	lysosome	Cellular Component	TAS[9507004]	31
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	Biological Process	TAS[2823249]	13
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	Biological Process	TAS[10734107]	3
GO:0007166	cell surface receptor signaling pathway	Biological Process	TAS[1371121]	35
GO:0006898	receptor-mediated endocytosis	Biological Process	IDA[15123695]	11
GO:0002028	regulation of sodium ion transport	Biological Process		4
GO:0002025	vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure	Biological Process		3
GO:0002024	diet induced thermogenesis	Biological Process		4
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[15123695]	910
GO:0004941	beta2-adrenergic receptor activity	Molecular Function	IDA[15123695]	1
GO:0002032	desensitization of G-protein coupled receptor protein signaling pathway by arrestin	Biological Process	IDA[15123695]	3

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04144	Endocytosis	39	Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More...
hsa04080	Neuroactive ligand-receptor interaction	93
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...
hsa04970	Salivary secretion	22	Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. More...

Genes shared at least 5 GO terms with ADRB2 (count: 19)

Gene Symbol	Pathway Count	Pathway List
ADRB3	19	brown fat cell differentiation; norepinephrine binding; negative regulation of multicellular organism growth; protein homodimerization activity; heat generation; receptor complex; positive regulation of MAPK cascade; adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; response to cold; integral to plasma membrane; plasma membrane; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; receptor-mediated endocytosis; vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; diet induced thermogenesis; nucleus; protein binding; desensitization of G-protein coupled receptor protein signaling pathway by arrestin;
ADRB1	14	brown fat cell differentiation; negative regulation of smooth muscle contraction; norepinephrine binding; negative regulation of multicellular organism growth; heat generation; adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; response to cold; integral to plasma membrane; plasma membrane; vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; diet induced thermogenesis; nucleus; protein binding;
ADRA2A	6	norepinephrine binding; protein homodimerization activity; receptor complex; integral to plasma membrane; plasma membrane; protein binding;
GHR	6	protein homodimerization activity; receptor complex; integral to plasma membrane; plasma membrane; nucleus; protein binding;
DRD2	6	positive regulation of transcription from RNA polymerase II promoter; potassium channel regulator activity; integral to plasma membrane; plasma membrane; regulation of sodium ion transport; protein binding;
ERBB2	6	receptor complex; apical plasma membrane; plasma membrane; cell surface receptor signaling pathway; nucleus; protein binding;
ADORA2A	6	adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; integral to plasma membrane; plasma membrane; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; protein binding;
DRD1	6	adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; integral to plasma membrane; plasma membrane; nucleus; protein binding;
ADRA2C	5	protein homodimerization activity; integral to plasma membrane; plasma membrane; endosome; protein binding;
SLC11A1	5	protein homodimerization activity; positive regulation of transcription from RNA polymerase II promoter; integral to plasma membrane; plasma membrane; lysosome;
TFAP2A	5	protein homodimerization activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of bone mineralization; nucleus; protein binding;
ARRB2	5	positive regulation of protein ubiquitination; plasma membrane; nucleus; protein binding; desensitization of G-protein coupled receptor protein signaling pathway by arrestin;
PRKD1	5	positive regulation of transcription from RNA polymerase II promoter; integral to plasma membrane; plasma membrane; nucleus; protein binding;
BMPR1B	5	receptor complex; positive regulation of bone mineralization; integral to plasma membrane; plasma membrane; protein binding;
ADRA1B	5	positive regulation of MAPK cascade; integral to plasma membrane; plasma membrane; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; nucleus;
FLT4	5	positive regulation of MAPK cascade; integral to plasma membrane; plasma membrane; nucleus; protein binding;
BDKRB2	5	integral to plasma membrane; plasma membrane; endosome; cell surface receptor signaling pathway; protein binding;
CCR5	5	integral to plasma membrane; plasma membrane; endosome; cell surface receptor signaling pathway; protein binding;
MC4R	5	plasma membrane; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; diet induced thermogenesis; nucleus; protein binding;

Genes shared at least 2 KEGG pathways with ADRB2 (count: 39)

Gene Symbol	Pathway Count	Pathway List
ADRB1	4	Endocytosis; Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
ADRB3	4	Endocytosis; Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
ADRA1A	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
ADRA1B	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
ADRA1D	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
CHRM3	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Salivary secretion;
ADORA2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
BDKRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKAR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKBR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRNA7	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
DRD1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
DRD5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
EDNRA	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRIN2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRM1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRM5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2C	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR4	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR5A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR7	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
LTB4R2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
OXTR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
TACR3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADCY4	2	Calcium signaling pathway; Salivary secretion;
ATP2B3	2	Calcium signaling pathway; Salivary secretion;
ITPR1	2	Calcium signaling pathway; Salivary secretion;
ITPR2	2	Calcium signaling pathway; Salivary secretion;
NOS1	2	Calcium signaling pathway; Salivary secretion;
PLCB2	2	Calcium signaling pathway; Salivary secretion;
PLCB3	2	Calcium signaling pathway; Salivary secretion;
PRKCB	2	Calcium signaling pathway; Salivary secretion;
RYR3	2	Calcium signaling pathway; Salivary secretion;

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Region: chr5:148206156..148208197 View in gBrowse