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Gene Report
Basic Info
| Approved Symbol | ADRA1B |
|---|---|
| Approved Name | adrenergic, alpha-1B-, receptor |
| Location | 5q33.3 |
| Position | chr5:159343740-159400017, + |
| External Links |
HGNC: 278 Entrez Gene: 147 Ensembl: ENSG00000170214 UCSC: uc003lxt.1 |
| No. of Studies | 2 (significant: 1; non-significant: 1; trend: 0) |
| Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region |
Gene related studies (count: 2)
| Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
|---|---|---|
| Brookes K, 2006 | UNPHASED TDT P-value=0.067, global P-value=0.521, WHAP TDT P_sum P-value=0.246, no SNP with nominal P-value<0.05 located in this gene | Non-significant |
| Hawi, Z., 2012 | Although suggestive evidence of association (nominal p <= 0.05) with the genes SLC6A2, ADRA1A, ADRA1B and ADRA2B was observed, none remained significant after permutation adjustments. A rare ADRA1B haplotype made of six SNPs (rs2030373, rs6884105, rs756275, rs6892282, rs6888306 and rs13162302) was also associated (chi(2) = 7.79, p-corrected = 0.042 OR = 2.74) with the disorder. These findings provide evidence of a contribution of the noradrenaline system to the genetic aetiology of ADHD. | Significant |
Gene related SNPs (count: 41)
Literature-origin SNPs (count: 11)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs7737796 | Chr5:159369429(Fwd) | intron_variant | 1(1/0/0) |
| rs12653825 | Chr5:159383271(Fwd) | intron_variant; upstream_gene_variant | 1(0/1/0) |
| rs6892282 | Chr5:159360485(Fwd) | intron_variant | 1(0/1/0) |
| rs6884105 | Chr5:159348443(Fwd) | intron_variant | 1(0/1/0) |
| rs6888306 | Chr5:159367114(Fwd) | intron_variant | 1(1/0/0) |
| rs756275 | Chr5:159351460(Fwd) | intron_variant | 1(0/1/0) |
| rs11953285 | Chr5:159391811(Fwd) | intron_variant | 1(0/1/0) |
| rs2030373 | Chr5:159347481(Fwd) | intron_variant | 1(0/1/0) |
| rs13162302 | Chr5:159367275(Fwd) | intron_variant | 1(0/1/0) |
| rs952037 | Chr5:159390877(Fwd) | intron_variant | 2(1/1/0) |
| rs17057305 | Chr5:159381080(Fwd) | intron_variant; upstream_gene_variant | 1(0/1/0) |
LD-proxies (count: 30)
| rs_ID | Location | Functional Annotation |
|---|---|---|
| rs4921241 | Chr5:159366433(Fwd) | intron_variant |
| rs4921242 | Chr5:159366698(Fwd) | intron_variant |
| rs11738480 | Chr5:159365386(Fwd) | intron_variant |
| rs10515805 | Chr5:159365567(Fwd) | intron_variant |
| rs10515806 | Chr5:159365289(Fwd) | intron_variant |
| rs4921100 | Chr5:159369315(Fwd) | intron_variant |
| rs11738707 | Chr5:159375234(Fwd) | downstream_gene_variant; intron_variant |
| rs11743425 | Chr5:159368286(Fwd) | intron_variant |
| rs11741223 | Chr5:159368440(Fwd) | intron_variant |
| rs11743363 | Chr5:159368087(Fwd) | intron_variant |
| rs11741191 | Chr5:159368270(Fwd) | intron_variant |
| rs13179079 | Chr5:159367009(Fwd) | intron_variant |
| rs11750092 | Chr5:159367971(Fwd) | intron_variant |
| rs17468607 | Chr5:159365370(Fwd) | intron_variant |
| rs2222308 | Chr5:159350322(Fwd) | intron_variant |
| rs17455628 | Chr5:159348898(Fwd) | intron_variant |
| rs17057287 | Chr5:159365714(Fwd) | intron_variant |
| rs34467921 | Chr5:159377721(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant |
| rs1402022 | Chr5:159350767(Fwd) | intron_variant |
| rs11742073 | Chr5:159375408(Fwd) | downstream_gene_variant; intron_variant |
| rs1019919 | Chr5:159339770(Fwd) | upstream_gene_variant |
| rs752266 | Chr5:159341032(Fwd) | upstream_gene_variant |
| rs10515807 | Chr5:159364998(Fwd) | intron_variant |
| rs3729604 | Chr5:159344461(Fwd) | synonymous_variant |
| rs3844071 | Chr5:159381481(Fwd) | intron_variant; upstream_gene_variant |
| rs3896275 | Chr5:159381526(Fwd) | intron_variant; upstream_gene_variant |
| rs1019920 | Chr5:159339533(Fwd) | upstream_gene_variant |
| rs11952941 | Chr5:159354775(Fwd) | intron_variant |
| rs13171967 | Chr5:159378159(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant |
| rs1474190 | Chr5:159356484(Fwd) | intron_variant |
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
| Region Name | Position | No. of Studies (significant/non-significant/trend) |
|---|---|---|
| 5q33.3 | chr5:155700000-159900000 | 1 (1/0/0) |
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)
Gene related KEGG pathways (count: 4)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04080 | Neuroactive ligand-receptor interaction | 93 | |
| hsa04270 | Vascular smooth muscle contraction | 33 | The vascular smooth muscle cell (VSMC) is a highly specializ...... The vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regulate the blood flow and pressure. More... |
| 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 ADRA1B (count: 17)
Genes shared at least 2 KEGG pathways with ADRA1B (count: 45)
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Region: chr5:159343740..159400017 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014