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Set Analyses:

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INS-IGF2 Gene

protein-coding GIFtS: 34
GCID: GC11M002171

INS-IGF2 Readthrough

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
INS-IGF2 Readthrough¹ ²
INS-IGF2 Readthrough Transcript Protein² ³
INSIGF²
insulin²
Insulin- Insulin-Like Growth Factor 2 Read-Through Product²

External Ids:	HGNC: 33527¹	Entrez Gene: 723961²	Ensembl: ENSG00000129965⁷	UniProtKB: F8WCM5³

Export aliases for INS-IGF2 gene to outside databases

Previous GC identifers: GC11U900700 GC11M002124 GC11M002116 GC11M002119 GC11M002120 GC11M001940

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for INS-IGF2 Gene:

This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the

5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the

N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a

candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the

limb and eye. (provided by RefSeq, Jul 2008)

GeneCards Summary for INS-IGF2 Gene:

INS-IGF2 (INS-IGF2 readthrough) is a protein-coding gene. Diseases associated with INS-IGF2 include beckwith-wiedemann syndrome, and type 1 diabetes. GO annotations related to this gene include hormone activity. An important paralog of this gene is INS.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:

Search for regulatory transcription factor binding sites for INS-IGF2
Other transcription factors

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Search Chromatin IP Primers for INS-IGF2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INS-IGF2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5

INS-IGF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INS-IGF2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M002171: view genomic region (about GC identifiers)

Start:	2,150,342 bp from pter	End:	2,182,439 bp from pter
Size:	32,098 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for INS-IGF2

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: INSR2_HUMAN, F8WCM5 (See protein sequence)

Recommended Name: Insulin, isoform 2

Size: 200 amino acids; 21537 Da

Secondary accessions: Q1WM24

Alternative splicing: 2 isoforms: F8WCM5-1 P01308-1 (Based on a readthrough transcript which may produce an INS-IGF2 fusion protein)

Explore the universe of human proteins at neXtProt for INS-IGF2: NX_F8WCM5

Explore proteomics data for INS-IGF2 at MOPED

See INS-IGF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001035835.1

ENSEMBL proteins:

ENSP00000348986 ENSP00000380440

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR016179 Insulin-like

IPR004825 Insulin

Graphical View of Domain Structure for InterPro Entry F8WCM5

ProtoNet protein and cluster: F8WCM5

INS-IGF2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005179	hormone activity	IEA	--

INS-IGF2 for ontologies About GeneDecksing

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

INS-IGF2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for INS-IGF2 About (see all 13)

See pathways by source

SuperPath

Contained pathways About

Insulin receptor signalling cascade

Insulin receptor signalling cascade	0.94	IRS activation	0.00
IRS-related events	0.94	SHC activation	0.00
Signaling by Insulin receptor	0.80	Signal attenuation	0.00
SHC-related events	0.00

Peptide hormone metabolism

	Peptide hormone metabolism	0.30			Synthesis, Secretion, and Deacylation of Ghrelin	0.00
	Insulin Processing	0.30

Integration of energy metabolism

Integration of energy metabolism

0.75

Regulation of Insulin Secretion

0.75

Regulation of beta-cell development

Regulation of beta-cell development

0.64

Regulation of gene expression in beta cells

0.64

Insulin receptor recycling

Insulin receptor recycling

0.74

2 BioSystems Pathways for INS-IGF2

	AMPK signaling
	Type II diabetes mellitus

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Interactions:

Search GeneGlobe Interaction Network for INS-IGF2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for INS-IGF2 (ENSP00000348986⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 166)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IDE	ENSP00000265986⁴	STRING: ENSP00000265986
AKT1	ENSP00000270202⁴	STRING: ENSP00000270202
AKT2	ENSP00000375892⁴	STRING: ENSP00000375892
ALAS1	ENSP00000309259⁴	STRING: ENSP00000309259
ATP6V0A1	ENSP00000264649⁴	STRING: ENSP00000264649

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for INS-IGF2 gene:

NM_001042376.2

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356578 ENST00000481781 ENST00000397270(uc001lvm.3) ENST00000476874

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GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for INS-IGF2 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	·	4c	·	4d
SP1:
SP2:							-
SP3:							-				-
SP4:							-				-		-
SP5:

ECgene alternative splicing isoforms for INS-IGF2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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INS-IGF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

INS-IGF2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

INS-IGF2 Protein Expression

UniProtKB/Swiss-Prot: INSR2_HUMAN, F8WCM5

Tissue specificity: Expressed in pancreas, eye and, to a lower extent, in limb

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for INS-IGF2 gene from 4 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
dog (Canis familiaris)	Mammalia	INS⁶	Canis lupus familiaris insulin (INS), mRNA.	69(a)	1 ↔ 1	18(46311865-46324933)
chicken (Gallus gallus)	Aves	INS⁶	Gallus gallus insulin (INS), mRNA.	46(a)	1 → many	5(13125200-13129792) ENSGALG00000006552
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	44(a)	1 → many	1(69965277-69969077)
zebrafish (Danio rerio)	Actinopterygii	ins⁶ insb⁶	preproinsulin b	33(a) 23(a)	many ↔ many many ↔ many	5(39454959-39457905) ENSDARG00000035350 14(29583203-29588274) ENSDARG00000034610

ENSEMBL Gene Tree for INS-IGF2 (if available)
TreeFam Gene Tree for INS-IGF2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for INS-IGF2 gene

INS²

1 SIMAP similar gene for INS-IGF2 using alignment to 1 protein entry: INSR2_HUMAN:

INS

INS-IGF2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17883131^1,2	C,F	--	2173086(+)	`GGGCTG/ATGGCC`	2	--	int¹		3		NS WA	204
rs151144923^1,2		--	2173121(+)	`CCTAAA/GCCACA`	2	--	int¹		0	--	--	--	--
rs140262729^1,2		--	2173325(+)	`CACCCA/GGCTCC`	2	--	int¹		0	--	--	--	--
rs148544531^1,2	C	--	2173411(+)	`TTCAG-/AAAAAAGC`	2	--	cds¹ int¹		0	--	--	--	--
rs7924316^1,2	C,F,A,H	--	2173447(+)	`GACCGT/GAGCTA`	2	--	int¹		37		NS EA NA WA CSA	4441
rs79251884^1,2	F	--	2173537(+)	`TGGCCC/ACAGAG`	2	--	int¹		1		WA	118
rs192630013^1,2		--	2173627(+)	`CAGCCC/TGAGGG`	2	--	int¹		0	--	--	--	--
rs76641480^1,2	C	--	2173907(+)	`CCACAG/TGTCCA`	2	--	int¹		0	--	--	--	--
rs79761971^1,2	C	--	2173908(+)	`CACAGC/GTCCAC`	2	--	int¹		0	--	--	--	--
rs185462154^1,2		--	2174090(+)	`CAAGAC/GTCTCA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for INS-IGF2 (2150342 - 2182439 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for INS-IGF2 (see all 17): About this table

Variant ID	Type	Subtype	PubMed ID
esv2673506	CNV	Deletion	23128226
dgv996n71	CNV	Loss	21882294
nsv896776	CNV	Loss	21882294
nsv896785	CNV	Loss	21882294
dgv994n71	CNV	Loss	21882294
nsv896796	CNV	Loss	21882294
dgv998n71	CNV	Loss	21882294
dgv995n71	CNV	Loss	21882294
nsv896798	CNV	Loss	21882294
nsv896797	CNV	Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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4 diseases for INS-IGF2: About MalaCards

beckwith-wiedemann syndrome type 1 diabetes diabetes mellitus parkinson's disease

INS-IGF2 for disorders About GeneDecksing

Genetic Association Database (GAD): INS-IGF2
Human Genome Epidemiology (HuGE) Navigator: INS-IGF2 (4 documents)

Export disorders for INS-IGF2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for INS-IGF2 gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with INS-IGF2)

Utopia: connect your pdf to the dynamic
world of online information

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS- IGF2 isoforms show differences between mouse and human. (PubMed id 16531418)^{1, 2, 3} Monk D.... Moore G.E. (Hum. Mol. Genet. 2006)
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PubMed id 21829393)^{1, 4} Plagnol V....Todd J.A. (PLoS Genet. 2011)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. (PubMed id 17632545)^{1, 4} Hakonarson H.... Polychronakos C. (Nature 2007)
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (PubMed id 17554260)^{1, 4} Todd J.A.... Clayton D.G. (Nat. Genet. 2007)
Autoimmunity against INS-IGF2 protein expressed in human pancreatic islets. (PubMed id 23935095)¹ Kanatsuna N....Lernmark A.8. (J. Biol. Chem. 2013)
Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (PLoS ONE 2010)
Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (Am. J. Hum. Genet. 2009)
Association between small for gestational age and paternally inherited 5' insulin haplotypes. (PubMed id 17700581)¹ Adkins R.M....Somes G. (Int J Obes (Lond) 2008)
Association between paternally inherited haplotypes upstream of the insulin gene and umbilical cord IGF-II levels. (PubMed id 17667841)¹ Adkins R.M....Morrison J.C. (Pediatr. Res. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 723961	HGNC: 33527	Ensembl:ENSG00000129965	euGenes: HUgn723961	ECgene: INS-IGF2
H-InvDB: INS-IGF2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for INS-IGF2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for INS-IGF2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for INS-IGF2 gene:
Search GeneIP for patents involving INS-IGF2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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	OriGene MassSpec something-or-other for INS-IGF2		OriGene clones in human, mouse for INS-IGF2
	OriGene qSTAR qPCR primer pairs in human, mouse for INS-IGF2		OriGene Purified Protein for INS-IGF2
	Browse OriGene ORF clones		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for INS-IGF2		OriGene Custom Protein Services for INS-IGF2

	Block miRNA regulation of human, mouse, rat INS-IGF2 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing INS-IGF2
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INS-IGF2		Predesigned siRNA for gene silencing in human, mouse, rat INS-IGF2
	QuantiFast Probe-based Assays in human, mouse, rat INS-IGF2		QuantiTect SYBR Green Assays in human, mouse, rat INS-IGF2
	Custom PCR Arrays for INS-IGF2		Search Chromatin IP Primers for INS-IGF2
	Pre-validated RT² qPCR Primer Assay in human, mouse / rat INS-IGF2		Search GeneGlobe Interaction Network for INS-IGF2
	Search Regulatory tfbs for INS-IGF2

	GenScript Custom Purified and Recombinant Proteins Services for INS-IGF2		GenScript cDNA clones with any tag delivered in your preferred vector for INS-IGF2
	GenScript Custom Assay Services for INS-IGF2		GenScript Custom overexpressing Cell Line Services for INS-IGF2
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

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	See all of Abcam's Antibodies, Kits and Proteins for INS-IGF2
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Browse ESI BIO Cell Lines and PureStem Progenitors for INS-IGF2

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INS-IGF2

	Browse SwitchGear 3'UTR luciferase reporter plasmids for INS-IGF2
	Browse SwitchGear Promoter luciferase reporter plasmids for INS-IGF2

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INS-IGF2

	inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INS-IGF2
	inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INS-IGF2

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Customized transgenic rodents for:

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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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INS-IGF2 Gene

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