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	ISL1
Symbol Alias	Isl-1, ISLET1
Approved Name	ISL LIM homeobox 1
Previous Name	ISL1 transcription factor, LIM/homeodomain, (islet-1)
Location	5q11.2
Position	chr5:50678958-50690564, +
External Links	HGNC: 6132 Entrez Gene: 3670 Ensembl: ENSG00000016082 UCSC: uc003jor.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
Laurin N, 2008(a)	single marker and haplotype analyses yielded little evidence for significant association	Non-significant

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11954894	Chr5:50674131(Fwd)	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1(0/1/0)
rs2288648	Chr7:150774308(Fwd)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1(0/1/0)
rs10491412	Chr5:50671121(Fwd)	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs7708866	Chr5:50676126(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs3792733	Chr5:50682065(Fwd)	5_prime_UTR_variant; intron_variant; upstream_gene_variant
rs3811911	Chr5:50684451(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 60)

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

GO terms by database search (count: 60)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:1901258	positive regulation of macrophage colony-stimulating factor production	Biological Process		1
GO:0045766	positive regulation of angiogenesis	Biological Process		12
GO:0045665	negative regulation of neuron differentiation	Biological Process		13
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0043425	bHLH transcription factor binding	Molecular Function	IPI[16321656]	2
GO:0043388	positive regulation of DNA binding	Biological Process		3
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	Biological Process		7
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	Biological Process		4
GO:0032760	positive regulation of tumor necrosis factor production	Biological Process		9
GO:0032755	positive regulation of interleukin-6 production	Biological Process		5
GO:0032735	positive regulation of interleukin-12 production	Biological Process		7
GO:0032731	positive regulation of interleukin-1 beta production	Biological Process		2
GO:0032730	positive regulation of interleukin-1 alpha production	Biological Process		1
GO:0032729	positive regulation of interferon-gamma production	Biological Process		9
GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	Biological Process		3
GO:0032024	positive regulation of insulin secretion	Biological Process	IC[19619559]	5
GO:0031290	retinal ganglion cell axon guidance	Biological Process		3
GO:0090074	negative regulation of protein homodimerization activity	Biological Process		1
GO:0090090	negative regulation of canonical Wnt receptor signaling pathway	Biological Process		14
GO:0071385	cellular response to glucocorticoid stimulus	Biological Process		2
GO:0071657	positive regulation of granulocyte colony-stimulating factor production	Biological Process		1
GO:0060413	atrial septum morphogenesis	Biological Process		4
GO:0060913	cardiac cell fate determination	Biological Process	IDA[19571884]	1
GO:0060379	cardiac muscle cell myoblast differentiation	Biological Process		1
GO:0060384	innervation	Biological Process		3
GO:0055010	ventricular cardiac muscle tissue morphogenesis	Biological Process		2
GO:0060037	pharyngeal system development	Biological Process		5
GO:0048936	peripheral nervous system neuron axonogenesis	Biological Process		1
GO:0050728	negative regulation of inflammatory response	Biological Process		11
GO:0048762	mesenchymal cell differentiation	Biological Process		2
GO:0048880	sensory system development	Biological Process		1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0048665	neuron fate specification	Biological Process		2
GO:0003203	endocardial cushion morphogenesis	Biological Process		1
GO:0003151	outflow tract morphogenesis	Biological Process		12
GO:0003266	regulation of secondary heart field cardioblast proliferation	Biological Process		2
GO:0003215	cardiac right ventricle morphogenesis	Biological Process		2
GO:0001755	neural crest cell migration	Biological Process		6
GO:0001158	enhancer sequence-specific DNA binding	Molecular Function	IDA[19619559]; NAS[7789634]	2
GO:0003148	outflow tract septum morphogenesis	Biological Process		3
GO:0003139	secondary heart field specification	Biological Process		2
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process		78
GO:0001105	RNA polymerase II transcription coactivator activity	Molecular Function	IDA[19619559]	2
GO:0001102	RNA polymerase II activating transcription factor binding	Molecular Function	IPI[19619559]	6
GO:0021983	pituitary gland development	Biological Process		4
GO:0030331	estrogen receptor binding	Molecular Function		10
GO:0031016	pancreas development	Biological Process		5
GO:0031103	axon regeneration	Biological Process		2
GO:0021520	spinal cord motor neuron cell fate specification	Biological Process		1
GO:0021522	spinal cord motor neuron differentiation	Biological Process		3
GO:0021524	visceral motor neuron differentiation	Biological Process		1
GO:0021559	trigeminal nerve development	Biological Process		2
GO:0008270	zinc ion binding	Molecular Function		323
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0010575	positive regulation vascular endothelial growth factor production	Biological Process		4
GO:0016922	ligand-dependent nuclear receptor binding	Molecular Function		4
GO:0003682	chromatin binding	Molecular Function		48
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0005634	nucleus	Cellular Component	NAS[7907017]	770
GO:0005737	cytoplasm	Cellular Component	NAS[7907017]	690

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ISL1 (count: 34)

Gene Symbol	Pathway Count	Pathway List
HES1	11	positive regulation of DNA binding; positive regulation of tyrosine phosphorylation of Stat3 protein; pharyngeal system development; positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; regulation of secondary heart field cardioblast proliferation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
HEY2	9	atrial septum morphogenesis; positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; cardiac right ventricle morphogenesis; negative regulation of transcription from RNA polymerase II promoter; RNA polymerase II activating transcription factor binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
GATA6	8	positive regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; outflow tract septum morphogenesis; negative regulation of transcription from RNA polymerase II promoter; zinc ion binding; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus;
TBX1	8	pharyngeal system development; positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; neural crest cell migration; outflow tract septum morphogenesis; positive regulation of cell proliferation; sequence-specific DNA binding transcription factor activity; nucleus;
TFAP2A	8	positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; negative regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription coactivator activity; trigeminal nerve development; chromatin binding; nucleus; cytoplasm;
MED1	7	negative regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; estrogen receptor binding; ligand-dependent nuclear receptor binding; chromatin binding; nucleus;
ETS1	6	positive regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; pituitary gland development; positive regulation of cell proliferation; sequence-specific DNA binding transcription factor activity; nucleus;
VEGFA	6	positive regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; cytoplasm;
IL12B	6	positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of tumor necrosis factor production; positive regulation of interleukin-12 production; positive regulation of interferon-gamma production; positive regulation of granulocyte macrophage colony-stimulating factor production; cytoplasm;
STRN3	6	negative regulation of intracellular estrogen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
TLR4	6	positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; positive regulation of interleukin-12 production; positive regulation of interferon-gamma production; positive regulation of transcription from RNA polymerase II promoter; cytoplasm;
IKZF1	6	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; zinc ion binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
KDM1A	6	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; pituitary gland development; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus;
MTA2	6	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; zinc ion binding; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus;
RBPJ	6	positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
RELA	6	positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
NCOR1	6	negative regulation of transcription from RNA polymerase II promoter; RNA polymerase II activating transcription factor binding; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
NSD1	6	negative regulation of transcription from RNA polymerase II promoter; estrogen receptor binding; zinc ion binding; ligand-dependent nuclear receptor binding; chromatin binding; nucleus;
MTA3	6	zinc ion binding; positive regulation of cell proliferation; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
PRKCB	5	positive regulation of angiogenesis; zinc ion binding; chromatin binding; nucleus; cytoplasm;
HOXA2	5	negative regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus;
NR4A2	5	negative regulation of neuron apoptotic process; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; nucleus; cytoplasm;
PYCARD	5	positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; positive regulation of interferon-gamma production; nucleus; cytoplasm;
ZFPM1	5	atrial septum morphogenesis; outflow tract morphogenesis; RNA polymerase II activating transcription factor binding; zinc ion binding; cytoplasm;
FOXC2	5	ventricular cardiac muscle tissue morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus;
FOXF1	5	negative regulation of inflammatory response; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; pancreas development; nucleus;
KLF4	5	negative regulation of inflammatory response; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; zinc ion binding; sequence-specific DNA binding transcription factor activity;
FOXP1	5	positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; chromatin binding; nucleus; cytoplasm;
LMO4	5	positive regulation of transcription from RNA polymerase II promoter; enhancer sequence-specific DNA binding; spinal cord motor neuron differentiation; zinc ion binding; sequence-specific DNA binding transcription factor activity;
MAF	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
MEN1	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; chromatin binding; nucleus; cytoplasm;
SREBF1	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; chromatin binding; sequence-specific DNA binding transcription factor activity; nucleus;
YAP1	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; chromatin binding; nucleus; cytoplasm;
PRDM1	5	negative regulation of transcription from RNA polymerase II promoter; zinc ion binding; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;

Genes shared at least 2 KEGG pathways with ISL1 (count: 0)

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Region: chr5:50678958..50690564 View in gBrowse