ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PNMT
Previous Symbol	PENT
Approved Name	phenylethanolamine N-methyltransferase
Location	17q
Position	chr17:37824234-37826728, +
External Links	HGNC: 9160 Entrez Gene: 5409 Ensembl: ENSG00000141744 UCSC: uc002hsi.1
No. of Studies	3 (significant: 2; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 3)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes K, 2006	UNPHASED TDT P-value=0.0078, global P-value=0.0134, WHAP TDT P_sum P-value=0.0039; OR=1.67, one or more SNPs with nominal P-value<0.05 located in this gene	Significant
Oades RD, 2008	2 SNPs showed significant association	Significant
Hawi, Z., 2012	This gene did not show significant association with ADHD.	Non-significant

Gene related SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2934966	Chr17:37824138(Fwd)	downstream_gene_variant; upstream_gene_variant	2(2/0/0)
rs2952151	Chr17:37828496(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)
rs876493	Chr17:37824545(Fwd)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs200173	Chr17:37825089(Fwd)	downstream_gene_variant; intron_variant	2(2/0/0)
rs1053651	Chr17:37822311(Fwd)	downstream_gene_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs14050	Chr17:37828072(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs931992	Chr17:37821435(Fwd)	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs2247862	Chr17:37829129(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs903502	Chr17:37829604(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2941503	Chr17:37828745(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs907087	Chr17:37828787(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs2941504	Chr17:37830900(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant
rs1565922	Chr17:37831035(Fwd)	NMD_transcript_variant; downstream_gene_variant; 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: 6)

ID	Name	Type	No. of Genes in ADHDgene
GO:0044281	small molecule metabolic process	Biological Process	248
GO:0042418	epinephrine biosynthetic process	Biological Process	2
GO:0042423	catecholamine biosynthetic process	Biological Process	4
GO:0004603	phenylethanolamine N-methyltransferase activity	Molecular Function	1
GO:0034641	cellular nitrogen compound metabolic process	Biological Process	30
GO:0005829	cytosol	Cellular Component	447

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00350	Tyrosine metabolism	15

Genes shared at least 5 GO terms with PNMT (count: 1)

Gene Symbol	Pathway Count	Pathway List
TH	5	small molecule metabolic process; epinephrine biosynthetic process; catecholamine biosynthetic process; cellular nitrogen compound metabolic process; cytosol;

Genes shared at least 2 KEGG pathways with PNMT (count: 10)

Gene Symbol	Pathway Count	Pathway List
ALDH3A1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B2	2	Metabolic pathways; Tyrosine metabolism;
COMT	2	Metabolic pathways; Tyrosine metabolism;
DBH	2	Metabolic pathways; Tyrosine metabolism;
DDC	2	Metabolic pathways; Tyrosine metabolism;
MAOA	2	Metabolic pathways; Tyrosine metabolism;
MAOB	2	Metabolic pathways; Tyrosine metabolism;
TH	2	Metabolic pathways; Tyrosine metabolism;
TYR	2	Metabolic pathways; Tyrosine metabolism;

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Region: chr17:37824234..37826728 View in gBrowse