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	FADS2
Previous Symbol	LLCDL2
Symbol Alias	FADSD6, D6D, TU13, DES6, SLL0262
Approved Name	fatty acid desaturase 2
Name Alias	delta-6-desaturase
Location	11q12.2
Position	chr11:61583728-61634826, +
External Links	HGNC: 3575 Entrez Gene: 9415 Ensembl: ENSG00000134824 UCSC: uc001nsl.1
No. of Studies	3 (significant: 3; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 3)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes K, 2006	UNPHASED TDT P-value=0.039, global P-value=0.389, WHAP TDT P_sum P-value=0.798; OR=1.2, one or more SNPs with nominal P-value<0.05 located in this gene	Significant
Brookes KJ, 2006(a)	1 SNP showed significant association in both case-control and within-family analyses, which are suggestive of an association between FADS2 and ADHD	Significant
Mick E, 2010	Gene-based set test P-value=0.047. Significant gene-based set tests of association with selected candidates, but contains no significant or Trend associated SNPs.	Significant

Gene related SNPs (count: 34)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs498793	Chr11:61624705(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs174611	Chr11:61627881(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs174548	Chr11:61571348(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs174545	Chr11:61569306(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant	1(0/1/0)

LD-proxies (count: 30)

rs_ID	Location	Functional Annotation
rs174583	Chr11:61609750(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs174578	Chr11:61605499(Fwd)	intron_variant; upstream_gene_variant
rs174601	Chr11:61623140(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs174549	Chr11:61571382(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant
rs174556	Chr11:61580635(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs174555	Chr11:61579760(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2727270	Chr11:61603237(Fwd)	intron_variant; upstream_gene_variant
rs174570	Chr11:61597212(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs422249	Chr11:61639488(Fwd)	downstream_gene_variant
rs174605	Chr11:61626921(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs7104849	Chr11:61638044(Fwd)	downstream_gene_variant
rs174618	Chr11:61629322(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs695867	Chr11:61561288(Fwd)	intron_variant; upstream_gene_variant
rs174579	Chr11:61605613(Fwd)	intron_variant; upstream_gene_variant
rs174585	Chr11:61611694(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs174589	Chr11:61615803(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17831757	Chr11:61635200(Fwd)	downstream_gene_variant
rs174541	Chr11:61565908(Fwd)	downstream_gene_variant; intron_variant
rs174546	Chr11:61569830(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs174538	Chr11:61560081(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; upstream_gene_variant
rs4246215	Chr11:61564299(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs102275	Chr11:61557803(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs174576	Chr11:61603510(Fwd)	intron_variant; upstream_gene_variant
rs174577	Chr11:61604814(Fwd)	intron_variant; upstream_gene_variant
rs1535	Chr11:61597972(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs174574	Chr11:61600342(Fwd)	intron_variant; upstream_gene_variant
rs174566	Chr11:61592362(Fwd)	intron_variant; upstream_gene_variant
rs174568	Chr11:61593816(Fwd)	3_prime_UTR_variant; intron_variant; synonymous_variant; upstream_gene_variant
rs174547	Chr11:61570783(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs174550	Chr11:61571478(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_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)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 12)

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

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005887	integral to plasma membrane	Cellular Component	TAS[9867867]	220
GO:0006636	unsaturated fatty acid biosynthetic process	Biological Process		3
GO:0005506	iron ion binding	Molecular Function		20
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0022900	electron transport chain	Biological Process		12
GO:0033559	unsaturated fatty acid metabolic process	Biological Process		2
GO:0016020	membrane	Cellular Component	TAS[9867867]	139
GO:0020037	heme binding	Molecular Function		23
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0036109	alpha-linolenic acid metabolic process	Biological Process		2
GO:0043651	linoleic acid metabolic process	Biological Process		3
GO:0004768	stearoyl-CoA 9-desaturase activity	Molecular Function		1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00592	alpha-Linolenic acid metabolism	10
hsa03320	PPAR signaling pathway	12	Peroxisome proliferator-activated receptors (PPARs) are nucl...... Peroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) showing different expression patterns in vertebrates. Each of them is encoded in a separate gene and binds fatty acids and eicosanoids. PPARalpha plays a role in the clearance of circulating or cellular lipids via the regulation of gene expression involved in lipid metabolism in liver and skeletal muscle. PPARbeta/delta is involved in lipid oxidation and cell proliferation. PPARgamma promotes adipocyte differentiation to enhance blood glucose uptake. More...
hsa01040	Biosynthesis of unsaturated fatty acids	5

Genes shared at least 5 GO terms with FADS2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
FADS1	10	unsaturated fatty acid biosynthetic process; iron ion binding; endoplasmic reticulum membrane; electron transport chain; unsaturated fatty acid metabolic process; membrane; heme binding; small molecule metabolic process; alpha-linolenic acid metabolic process; linoleic acid metabolic process;
FADS3	6	unsaturated fatty acid biosynthetic process; iron ion binding; endoplasmic reticulum membrane; electron transport chain; membrane; heme binding;

Genes shared at least 2 KEGG pathways with FADS2 (count: 0)

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Region: chr11:61583728..61634826 View in gBrowse