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	OXTR
Approved Name	oxytocin receptor
Location	3p25
Position	chr3:8792094-8811314, -
External Links	HGNC: 8529 Entrez Gene: 5021 Ensembl: ENSG00000180914 UCSC: uc003brc.2
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Park J, 2010	There was no association with the ADHD phenotype through TDT test, but an association with social cognitive impairments in a subset of the ADHD probands (N=112) was found.	Non-significant

Gene related SNPs (count: 16)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs53576	Chr3:8804371(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs13316193	Chr3:8802743(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs6770632	Chr3:8793724(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs237885	Chr3:8795543(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs237895	Chr3:8807423(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 11)

rs_ID	Location	Functional Annotation
rs2268493	Chr3:8800840(Fwd)	intron_variant; nc_transcript_variant
rs2268492	Chr3:8800672(Fwd)	intron_variant; nc_transcript_variant
rs11131149	Chr3:8802851(Fwd)	intron_variant; nc_transcript_variant
rs13087941	Chr3:8787220(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; synonymous_variant; upstream_gene_variant
rs2324728	Chr3:8792728(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs237884	Chr3:8793585(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant
rs237897	Chr3:8808285(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17297971	Chr3:8790164(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs7632287	Chr3:8791446(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs11706648	Chr3:8796547(Fwd)	intron_variant; nc_transcript_variant
rs237886	Chr3:8795587(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 42)

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

GO terms by database search (count: 42)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007595	lactation	Biological Process	TAS[1313946]	7
GO:0007565	female pregnancy	Biological Process		14
GO:0010701	positive regulation of norepinephrine secretion	Biological Process		1
GO:0007613	memory	Biological Process		18
GO:0070371	ERK1 and ERK2 cascade	Biological Process		7
GO:0007166	cell surface receptor signaling pathway	Biological Process	TAS[1313946]	35
GO:0070474	positive regulation of uterine smooth muscle contraction	Biological Process		3
GO:0006936	muscle contraction	Biological Process	TAS[1313946]	18
GO:0007507	heart development	Biological Process		23
GO:0007204	elevation of cytosolic calcium ion concentration	Biological Process		20
GO:0032355	response to estradiol stimulus	Biological Process		18
GO:0032230	positive regulation of synaptic transmission, GABAergic	Biological Process		4
GO:0034059	response to anoxia	Biological Process		2
GO:0032570	response to progesterone stimulus	Biological Process		7
GO:0017046	peptide hormone binding	Molecular Function		5
GO:0016324	apical plasma membrane	Cellular Component		51
GO:0030431	sleep	Biological Process		4
GO:0021537	telencephalon development	Biological Process		4
GO:0042713	sperm ejaculation	Biological Process		2
GO:0042711	maternal behavior	Biological Process		3
GO:0043434	response to peptide hormone stimulus	Biological Process		9
GO:0042755	eating behavior	Biological Process		7
GO:0035176	social behavior	Biological Process		9
GO:0034097	response to cytokine stimulus	Biological Process		9
GO:0042493	response to drug	Biological Process		68
GO:0042220	response to cocaine	Biological Process		11
GO:0060206	estrous cycle phase	Biological Process		2
GO:0005886	plasma membrane	Cellular Component		772
GO:0060137	maternal process involved in parturition	Biological Process		2
GO:0005887	integral to plasma membrane	Cellular Component	TAS[10858434]	220
GO:0060455	negative regulation of gastric acid secretion	Biological Process		1
GO:0005902	microvillus	Cellular Component		8
GO:0060406	positive regulation of penile erection	Biological Process		1
GO:0005913	cell-cell adherens junction	Cellular Component		9
GO:0048565	digestive tract development	Biological Process		2
GO:0001967	suckling behavior	Biological Process		4
GO:0045777	positive regulation of blood pressure	Biological Process		6
GO:0001975	response to amphetamine	Biological Process		16
GO:0051968	positive regulation of synaptic transmission, glutamatergic	Biological Process		8
GO:0004990	oxytocin receptor activity	Molecular Function		1
GO:0051965	positive regulation of synapse assembly	Biological Process		4
GO:0005000	vasopressin receptor activity	Molecular Function		2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
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...

Genes shared at least 5 GO terms with OXTR (count: 15)

Gene Symbol	Pathway Count	Pathway List
SLC6A4	7	memory; response to estradiol stimulus; sperm ejaculation; social behavior; response to drug; plasma membrane; integral to plasma membrane;
TH	7	memory; heart development; response to estradiol stimulus; response to peptide hormone stimulus; eating behavior; social behavior; response to amphetamine;
ADORA2A	7	positive regulation of synaptic transmission, GABAergic; eating behavior; response to drug; plasma membrane; integral to plasma membrane; response to amphetamine; positive regulation of synaptic transmission, glutamatergic;
DRD1	6	memory; response to drug; plasma membrane; integral to plasma membrane; response to amphetamine; positive regulation of synaptic transmission, glutamatergic;
GRIN2A	6	memory; sleep; response to drug; plasma membrane; integral to plasma membrane; response to amphetamine;
HTR2A	6	memory; ERK1 and ERK2 cascade; sleep; response to drug; plasma membrane; integral to plasma membrane;
TACR3	6	positive regulation of uterine smooth muscle contraction; response to estradiol stimulus; response to cocaine; plasma membrane; integral to plasma membrane; positive regulation of blood pressure;
DRD3	6	social behavior; response to drug; response to cocaine; plasma membrane; integral to plasma membrane; response to amphetamine;
SLC6A3	5	lactation; response to drug; response to cocaine; plasma membrane; integral to plasma membrane;
ADRA2B	5	female pregnancy; positive regulation of uterine smooth muscle contraction; plasma membrane; integral to plasma membrane; positive regulation of blood pressure;
CNR1	5	memory; response to cocaine; plasma membrane; integral to plasma membrane; positive regulation of blood pressure;
GJA1	5	muscle contraction; heart development; response to peptide hormone stimulus; plasma membrane; integral to plasma membrane;
EDNRA	5	heart development; elevation of cytosolic calcium ion concentration; plasma membrane; maternal process involved in parturition; integral to plasma membrane;
NRXN1	5	social behavior; plasma membrane; integral to plasma membrane; positive regulation of synaptic transmission, glutamatergic; positive regulation of synapse assembly;
DRD2	5	response to drug; response to cocaine; plasma membrane; integral to plasma membrane; response to amphetamine;

Genes shared at least 2 KEGG pathways with OXTR (count: 30)

Gene Symbol	Pathway Count	Pathway List
ADORA2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1B	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1D	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB3	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;
CHRM3	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;
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;

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Region: chr3:8792094..8811314 View in gBrowse