Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	IGF1
Symbol Alias	IGF1A, IGFI, IGF-I
Approved Name	insulin-like growth factor 1 (somatomedin C)
Location	12q23.2
Position	chr12:102395867-102480645, -1
External Links	HGNC: 5464 Entrez Gene: 3479 Ensembl: ENSG00000017427 UCSC: uc001tjp.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Pereira, A. C.,2011	SNP: rs1019731, rs10745940, rs10860857, rs10860860, rs10860864, rs10860869, rs11111243, rs11111272, rs11829367, rs12309723, rs12423791, rs12426318, rs12821878, rs17439974, rs17727841, rs2072592, rs2114913, rs2195243, rs2373721, rs2607983, rs2607986, rs2946831, rs35762, rs35765, rs4764695, rs4764698, rs55650342, rs5742612, rs5742615, rs5742620, rs5742632, rs5742652, rs5742678, rs5742688, rs6214, rs703542, rs703548, rs7313075, rs75244810, rs753479, rs78352613, rs7955640, rs7978777, rs855288, rs860598, rs9308315, rs978458 Haplotype: IGF1_(CA)n - rs2195243 - rs12309723(306-G-A), rs11111243 - rs10860857 - rs4764695 - rs10860860 - rs2946831(C-C-C-T-A) Other variant: IGF1_(CA)n	These data implicate IGF1 as a candidate gene to cause genetic susceptibility to BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 90)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005158	insulin receptor binding	molecular function	IPI[8452530]	5
GO:0005159	insulin-like growth factor receptor binding	molecular function	IMP[1847964]; IPI[8452530]	5
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005179	hormone activity	molecular function	IDA[7188854]	12

GO terms by database search (count: 86)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0033160	positive regulation of protein import into nucleus, translocation	biological process	IDA[19654000]	2
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	biological process	IEA	1
GO:0016942	insulin-like growth factor binding protein complex	cellular component	IC[10766744]	1
GO:0006928	movement of cell or subcellular component	biological process	TAS[10766744]	7
GO:0045840	positive regulation of mitotic nuclear division	biological process	IDA[10644978]	5
GO:0032878	regulation of establishment or maintenance of cell polarity	biological process	IEA	1
GO:0045669	positive regulation of osteoblast differentiation	biological process	IDA[16433617]	7
GO:0051897	positive regulation of protein kinase B signaling	biological process	IEA	11
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	biological process	IDA[19654000]	1
GO:0006260	DNA replication	biological process	TAS[10766744]	7
GO:2000288	positive regulation of myoblast proliferation	biological process	IEA	1
GO:0051450	myoblast proliferation	biological process	IDA[17531227]	1
GO:0045740	positive regulation of DNA replication	biological process	IDA[7688386]; ISS	7
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	biological process	IDA[10766744]	2
GO:0014834	skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	biological process	IDA[17531227]	1
GO:0010613	positive regulation of cardiac muscle hypertrophy	biological process	IDA[19654000]	2
GO:0048839	inner ear development	biological process	IEA	3
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	7
GO:0031093	platelet alpha granule lumen	cellular component	TAS	1
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0007517	muscle organ development	biological process	TAS[10448861]	11
GO:0014904	myotube cell development	biological process	IDA[17531227]	1
GO:0030168	platelet activation	biological process	TAS	22
GO:0030104	water homeostasis	biological process	IEA	1
GO:0010001	glial cell differentiation	biological process	IEA	2
GO:0010468	regulation of gene expression	biological process	IMP[21543511]	6
GO:0048286	lung alveolus development	biological process	IEA	4
GO:0005515	protein binding	molecular function	IPI[10766744]	563
GO:0021940	positive regulation of cerebellar granule cell precursor proliferation	biological process	IEA	1
GO:0008283	cell proliferation	biological process	IMP[1847964]	37
GO:0008083	growth factor activity	molecular function	IEA	15
GO:0090201	negative regulation of release of cytochrome c from mitochondria	biological process	ISS	5
GO:0048146	positive regulation of fibroblast proliferation	biological process	IDA[7188854]	7
GO:0048009	insulin-like growth factor receptor signaling pathway	biological process	IEA	4
GO:0048754	branching morphogenesis of an epithelial tube	biological process	IEA	3
GO:0043410	positive regulation of MAPK cascade	biological process	IDA[19654000]	13
GO:0060736	prostate gland growth	biological process	IEA	2
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	IDA[7782332]	12
GO:0001974	blood vessel remodeling	biological process	IEA	8
GO:0070373	negative regulation of ERK1 and ERK2 cascade	biological process	IEA	4
GO:0050679	positive regulation of epithelial cell proliferation	biological process	IDA[7188854]	9
GO:0005615	extracellular space	cellular component	IDA[11404306]	85
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	biological process	IDA[16942485]	6
GO:0048015	phosphatidylinositol-mediated signaling	biological process	IDA[7692086]	17
GO:0045821	positive regulation of glycolytic process	biological process	IDA[7688386]	4
GO:0060426	lung vasculature development	biological process	IEA	3
GO:0060527	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	biological process	IEA	3
GO:0034392	negative regulation of smooth muscle cell apoptotic process	biological process	IDA[16942485]	2
GO:0002576	platelet degranulation	biological process	TAS	5
GO:0030166	proteoglycan biosynthetic process	biological process	IDA[12746903]	1
GO:0007165	signal transduction	biological process	TAS[10448861]	136
GO:0045445	myoblast differentiation	biological process	IDA[17531227]	2
GO:0005576	extracellular region	cellular component	NAS[14718574]; TAS	97
GO:0046326	positive regulation of glucose import	biological process	IDA[21076856]	7
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[16433617]	91
GO:0014896	muscle hypertrophy	biological process	IMP[10191278]	1
GO:0035630	bone mineralization involved in bone maturation	biological process	IDA[16433617]	1
GO:0043066	negative regulation of apoptotic process	biological process	IMP[11949853]	46
GO:0001501	skeletal system development	biological process	TAS[10448861]	16
GO:0007596	blood coagulation	biological process	TAS	44
GO:0008284	positive regulation of cell proliferation	biological process	IDA[12746903]	44
GO:0060283	negative regulation of oocyte development	biological process	IMP[21543511]	1
GO:0046579	positive regulation of Ras protein signal transduction	biological process	IDA[9722506]	2
GO:0005178	integrin binding	molecular function	IDA[19578119]	8
GO:0060509	Type I pneumocyte differentiation	biological process	IEA	3
GO:0060766	negative regulation of androgen receptor signaling pathway	biological process	IEA	2
GO:0008285	negative regulation of cell proliferation	biological process	IEA	41
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[19654000]	58
GO:0040014	regulation of multicellular organism growth	biological process	IEP[8421089]	4
GO:0001775	cell activation	biological process	IDA[22797923]	2
GO:0014911	positive regulation of smooth muscle cell migration	biological process	IDA[10766744]	3
GO:0043388	positive regulation of DNA binding	biological process	IDA[19654000]	4
GO:0035264	multicellular organism growth	biological process	IEA	9
GO:0030879	mammary gland development	biological process	IEA	5
GO:0009441	glycolate metabolic process	biological process	TAS[10448861]	1
GO:0060463	lung lobe morphogenesis	biological process	IEA	2
GO:0031017	exocrine pancreas development	biological process	IEA	2
GO:0007265	Ras protein signal transduction	biological process	TAS[10848592]	7
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	biological process	IDA[7688386]	9
GO:0045725	positive regulation of glycogen biosynthetic process	biological process	IDA[21076856]	3
GO:0060510	Type II pneumocyte differentiation	biological process	IEA	1
GO:0042104	positive regulation of activated T cell proliferation	biological process	IDA[15694994]	1
GO:0060741	prostate gland stromal morphogenesis	biological process	IEA	1
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	biological process	IDA[9722506]	2
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IDA[10766744]	11
GO:0009408	response to heat	biological process	IDA[11404306]	12

Gene related KEGG pathways (count: 7)

KEGG pathways by PBA (count: 4)

ID	Name	No. of Genes in BDgene
hsa04730	Long-term depression	15
hsa04115	p53 signaling pathway	4
hsa04510	Focal adhesion	22
hsa05214	Glioma	9

KEGG pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
hsa05215	Prostate cancer	18
hsa05218	Melanoma	7
hsa04150	mTOR signaling pathway	5

Gene related BioCarta pathways (count: 8)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 7)

ID	Name	No. of Genes in BDgene
longevityPathway	The IGF-1 Receptor and Longevity	6
igf1mtorpathway	Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway	4
nfatPathway	NFAT and Hypertrophy of the heart (Transcription in the broken heart)	11
ghrelinPathway	Ghrelin: Regulation of Food Intake and Energy Homeostasis	1
erythPathway	Erythrocyte Differentiation Pathway	2
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10
igf1Pathway	IGF-1 Signaling Pathway	4

Gene related interactors from protein-protein interactions data in HPRD (count: 14)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IGF1	IGFBP6	NO	in vitro	7683646
IGF1	IDE	NO	in vitro	1733942
IGF1	IGFBP5	NO	in vitro;in vivo	9497324 , 1147105
IGF1	IGFBP7	YES	in vitro	8939990
IGF1	CTSB	NO	in vitro;in vivo	16051222
IGF1	WISP2	NO	in vitro	10358067
IGF1	IGFBP4	NO	in vitro	9722589
IGF1	IGFBP1	NO	in vitro	10350456
IGF1	IGFBP2	NO	in vitro	11063745
IGF1	IGSF1	NO	yeast 2-hybrid	11344214
IGF1	IGFBP3	NO	in vitro;in vivo	11600567
IGF1	IGFALS	NO	in vivo	9497324 , 10823924
IGF1	IGF1R	NO	in vitro	1852007
IGF1	NOV	NO	in vitro	10084601

Related other genetic factors

Gene related SNPs (count: 84)

Literature-origin SNPs (count: 47)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs703542	chr12:102547300 - 102547300(1)		1(1/0/0)
rs2946831	chr12:102393002 - 102393002(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs11111272	chr12:102433663 - 102433663(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs5742652	chr12:102442288 - 102442288(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2607983	chr12:102505926 - 102505926(1)		1(1/0/0)
rs2373721	chr12:102433267 - 102433267(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs78352613	chr12:102480849 - 102480849(1)	upstream_gene_variant	1(1/0/0)
rs12423791	chr12:102465050 - 102465050(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs10860857	chr12:102355787 - 102355787(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs35762	chr12:102555869 - 102555869(1)		1(0/1/0)
rs5742615	chr12:102477023 - 102477023(1)	intron_variant	1(1/0/0)
rs2114913	chr12:102534926 - 102534926(1)		1(0/1/0)
rs12309723	chr12:102529735 - 102529735(1)		1(1/0/0)
rs17727841	chr12:102415852 - 102415852(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2072592	chr12:102419854 - 102419854(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs10860869	chr12:102471274 - 102471274(1)	intron_variant	1(0/1/0)
rs2195243	chr12:102529208 - 102529208(1)		1(0/1/0)
rs5742678	chr12:102420554 - 102420554(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs9308315	chr12:102410115 - 102410115(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7978777	chr12:102525542 - 102525542(1)		1(0/1/0)
rs10860860	chr12:102387055 - 102387055(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs5742632	chr12:102462696 - 102462696(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4764695	chr12:102363335 - 102363335(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs5742620	chr12:102475822 - 102475822(1)	intron_variant	1(0/1/0)
rs6214	chr12:102399791 - 102399791(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs5742688	chr12:102418748 - 102418748(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs12821878	chr12:102473889 - 102473889(1)	intron_variant	1(0/1/0)
rs35765	chr12:102487918 - 102487918(1)		1(1/0/0)
rs17439974	chr12:102275055 - 102275055(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs1019731	chr12:102470647 - 102470647(1)	intron_variant	1(0/1/0)
rs7313075	chr12:102236901 - 102236901(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs5742612	chr12:102481086 - 102481086(1)	upstream_gene_variant	1(0/1/0)
rs855288	chr12:102544853 - 102544853(1)		1(1/0/0)
rs2607986	chr12:102508000 - 102508000(1)		1(0/1/0)
rs703548	chr12:102550895 - 102550895(1)		1(1/0/0)
rs55650342	chr12:102399281 - 102399281(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs75244810	chr12:102481032 - 102481032(1)	upstream_gene_variant	1(0/1/0)
rs12426318	chr12:102241743 - 102241743(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs978458	chr12:102408461 - 102408461(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7955640	chr12:102574521 - 102574521(1)		1(1/0/0)
rs10860864	chr12:102429084 - 102429084(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4764698	chr12:102466282 - 102466282(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs753479	chr12:102564784 - 102564784(1)		1(0/1/0)
rs11111243	chr12:102336586 - 102336586(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs860598	chr12:102504668 - 102504668(1)		1(0/1/0)
rs10745940	chr12:102403418 - 102403418(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs11829367	chr12:102526589 - 102526589(1)		1(0/1/0)

LD-proxies (count: 37)

rs_ID	Location	Functional Annotation
rs2162679	chr12:102477481 - 102477481(1)	intron_variant
rs2373722	chr12:102446679 - 102446679(1)	intron_variant; non_coding_transcript_variant
rs2033178	chr12:102453298 - 102453298(1)	intron_variant; non_coding_transcript_variant
rs5742723	chr12:102394594 - 102394594(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs5742692	chr12:102405820 - 102405820(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4764886	chr12:102429934 - 102429934(1)	intron_variant; non_coding_transcript_variant
rs6222	chr12:102396123 - 102396123(1)	3_prime_UTR_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs5742704	chr12:102400143 - 102400143(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs5742629	chr12:102463485 - 102463485(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs5009837	chr12:102416491 - 102416491(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs4764696	chr12:102416620 - 102416620(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5742694	chr12:102405458 - 102405458(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs6539035	chr12:102407157 - 102407157(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs10860865	chr12:102437944 - 102437944(1)	intron_variant; non_coding_transcript_variant
rs2288378	chr12:102436230 - 102436230(1)	intron_variant; non_coding_transcript_variant
rs972936	chr12:102431143 - 102431143(1)	intron_variant; non_coding_transcript_variant
rs5742667	chr12:102429700 - 102429700(1)	intron_variant; non_coding_transcript_variant
rs4764697	chr12:102459394 - 102459394(1)	intron_variant; non_coding_transcript_variant
rs10860861	chr12:102391791 - 102391791(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs9989002	chr12:102456445 - 102456445(1)	intron_variant; non_coding_transcript_variant
rs10735380	chr12:102450458 - 102450458(1)	intron_variant; non_coding_transcript_variant
rs7296464	chr12:102440232 - 102440232(1)	intron_variant; non_coding_transcript_variant
rs2288377	chr12:102480984 - 102480984(1)	upstream_gene_variant
rs17032623	chr12:102468032 - 102468032(1)	downstream_gene_variant; intron_variant
rs4764699	chr12:102466310 - 102466310(1)	downstream_gene_variant; intron_variant
rs5742639	chr12:102454468 - 102454468(1)	intron_variant; non_coding_transcript_variant
rs17032648	chr12:102484797 - 102484797(1)	upstream_gene_variant
rs12579108	chr12:102483541 - 102483541(1)	upstream_gene_variant
rs12579077	chr12:102483308 - 102483308(1)	upstream_gene_variant
rs11831436	chr12:102459465 - 102459465(1)	intron_variant; non_coding_transcript_variant
rs2195240	chr12:102462869 - 102462869(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2195239	chr12:102462924 - 102462924(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs17796225	chr12:102472860 - 102472860(1)	intron_variant
rs7956547	chr12:102465038 - 102465038(1)	downstream_gene_variant; intron_variant
rs10778176	chr12:102469201 - 102469201(1)	intron_variant
rs5742671	chr12:102421980 - 102421980(1)	intron_variant; non_coding_transcript_variant
rs35767	chr12:102481791 - 102481791(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
IGF1_(CA)n	microsatellite		1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q23	chr12:95800000-108600000	2 (0/1/1)
12q	chr12:38200000-133851895	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
17044098	137	Negative
20010316	137	Negative

Gene relationship with MDD

View in gBrowse

Region: chr12:102395867..102480645 View in gBrowse