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	OR4C3
Approved Name	olfactory receptor, family 4, subfamily C, member 3
Location	11p11.2
Position	chr11:48346472-48350023, +
External Links	HGNC: 14697 Entrez Gene: 256144 Ensembl: ENSG00000176547 UCSC: uc010rhv.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Hinney, A., 2011	This GWAS in a small group of clinically ascertained young German patients with ADHD and population-based controls did not reveal genome-wide significant findings. Replication attempts in further German and international samples did also not lead to a P-value(s) below 5E-08.	Trend

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs10838881	Chr11:48387275(Fwd)	missense_variant	1(0/0/1)

LD-proxies (count: 1)

rs_ID	Location	Functional Annotation
rs7949865	Chr11:48346202(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: 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:0005886	plasma membrane	Cellular Component	772
GO:0004984	olfactory receptor activity	Molecular Function	187
GO:0016021	integral to membrane	Cellular Component	845
GO:0004930	G-protein coupled receptor activity	Molecular Function	236

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 OR4C3 (count: 0)

Genes shared at least 2 KEGG pathways with OR4C3 (count: 0)

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Region: chr11:48346472..48350023 View in gBrowse