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	OR2T12
Approved Name	olfactory receptor, family 2, subfamily T, member 12
Location	1q44
Position	chr1:248457918-248458880, -
External Links	HGNC: 19592 Entrez Gene: 127064 Ensembl: ENSG00000177201 UCSC: uc010pzj.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_28	chr1:245714416-246522135 (NCBI Build 36.1 (hg18))	876470	1q44	Loss	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 4)

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

GO terms by database search (count: 4)

ID	Name	Type	No. of Genes in ADHDgene
GO:0004930	G-protein coupled receptor activity	Molecular Function	236
GO:0004984	olfactory receptor activity	Molecular Function	187
GO:0005886	plasma membrane	Cellular Component	772
GO:0016021	integral to membrane	Cellular Component	845

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04740	Olfactory transduction	173	Within the compact cilia of the olfactory receptor neurons (...... Within the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be transmitted to the brain. Odorant molecules bind to a receptor protein (R) coupled to an olfactory specific Gs-protein (G) and activate a type III adenylyl cyclase (AC), increasing intracellular cAMP levels. cAMP targets an olfactory-specific cyclic-nucleotide gated ion channel (CNG), allowing cations, particularly Na and Ca, to flow down their electrochemical gradients into the cell, depolarizing the ORN. Furthermore, the Ca entering the cell is able to activate a Ca-activated Cl channel, which would allow Cl to flow out of the cell, thus further increasing the depolarization. Elevated intracellular Ca causes adaptation by at least two different molecular steps: inhibition of the activity of adenylyl cyclase via CAMKII-dependent phosphorylation and down-regulation of the affinity of the CNG channel to cAMP.Longer exposure to odorants can stimulate particulate guanylyl cyclase in cilia to produce cGMP and activate PKG, leading to a further increase in amount and duration of intracellular cAMP levels, which may serve to convert inactive forms of protein kinase A (PKA2) to active forms (PKA*). As part of a feedback loop, PKA can inhibit the activation of particulate guanylyl cyclase. More...

Genes shared at least 5 GO terms with OR2T12 (count: 0)

Genes shared at least 2 KEGG pathways with OR2T12 (count: 0)

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Region: chr1:248457918..248458880 View in gBrowse