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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

INS Gene

protein-coding GIFtS: 63
GCID: GC11M002181

insulin

Explore 456 diseases affiliated with
INS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Insulin¹		IRDN²
IDDM2² ⁵		Preproinsulin¹
MODY10² ⁵		Proinsulin¹
ILPR²

External Ids:	HGNC: 6081¹	Entrez Gene: 3630²	Ensembl: ENSG00000254647⁷	OMIM: 176730⁵	UniProtKB: P01308³

Export aliases for INS gene to outside databases

Previous GC identifers: GC11U990070 GC11M002268 GC11M002140 GC11M002145 GC11M002137 GC11M002106 GC11M002125 GC11M002153 GC11M001971

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for INS:

After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B

chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide.

Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with

phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the

5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants.

(provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: INS_HUMAN, P01308

Function: Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids

and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

Gene Wiki entry for INS (Insulin)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the INS gene promoter:
GR CREB AP-1 deltaCREB GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): INS promoter sequence

Search SABiosciences Chromatin IP Primers for INS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INS

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M002181: view genomic region (about GC identifiers)

Start:	2,181,009 bp from pter	End:	2,182,571 bp from pter
Size:	1,563 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: INS_HUMAN, P01308 (See protein sequence)

Recommended Name: Insulin precursor

Size: 110 amino acids; 11981 Da

Subunit: Heterodimer of a B chain and an A chain linked by two disulfide bonds

Subcellular location: Secreted

Sequence caution: Sequence=AAA59179.1; Type=Erroneous gene model prediction;

6/150 PDB 3D structures from and Proteopedia for INS (see all 150):

1A7F (3D)

1AI0 (3D)

1AIY (3D)

1B9E (3D)

1BEN (3D)

1EFE (3D)

Secondary accessions: Q5EEX2

Explore the universe of human proteins at neXtProt for INS: NX_P01308

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01308

INS Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (3 alternative transcripts):

NP_000198.1 NP_001172026.1 NP_001172027.1

ENSEMBL proteins:

ENSP00000380432 ENSP00000250971 ENSP00000370731 ENSP00000408400 ENSP00000424008

Reactome Protein details: P01308
Human Recombinant Protein Products for INS:

	EMD Millipore Purified and/or Recombinant INS Protein
	R&D Systems Recombinant & Natural Proteins for INS (Proinsulin)
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	GenScript Custom Purified and Recombinant Proteins Services for INS
	Novus Biologicals INS Proteins Novus Biologicals INS Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for INS
	Uscn Proteins for INS

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	9667398
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005796	Golgi lumen	TAS	--
GO:0030141	secretory granule	TAS	--

INS for ontologies About GeneDecksing

INS Antibody Products:

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	Uscn Antibodies for INS
	ThermoFisher Antibody for INS

Assay Products for INS:

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	R&D Systems ELISAs for INS (Proinsulin)
	GenScript Custom Assay Services for INS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for INS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

INS for domains About GeneDecksing

4 InterPro domains/families:

IPR016179 Insulin-like

IPR022352 Insulin_family

IPR004825 Insulin

IPR022353 Insulin_CS

Graphical View of Domain Structure for InterPro Entry P01308

ProtoNet protein and cluster: P01308

1 Blocks protein family: IPB004825 Insulin/IGF/relaxin

UniProtKB/Swiss-Prot: INS_HUMAN, P01308

Similarity: Belongs to the insulin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: INS_HUMAN, P01308

Function: Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids

and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

Genatlas biochemistry entry for INS:

insulin

Summary:

During embryonic development, INS as signaling molecule

affects the following cells: Subcutaneous White Preadipocytes in Body Subcutaneous White Adipose

INS as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: White adipocyte-like cells, Immature adipocyte-like cells (see all 9).

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IPI	--
GO:0005158	insulin receptor binding	IPI	8452530
GO:0005159	insulin-like growth factor receptor binding	IPI	8452530
GO:0005179	hormone activity	NAS	14986111
GO:0005515	protein binding	IPI	9388210

INS for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for INS:

Increased cell death in HCC-19

Increased cell death in breast

15/21 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Ins2) (see all 21):

adipose tissue	behavior/neurological	cardiovascular system	cellular	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	liver/biliary system	mortality/aging	nervous system

INS for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for INS: Ins2^tm2Jja Ins2^tm1.1Mnt

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for INS

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INS
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate INS
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INS (see all 4) OriGene shRNA RFP: INS OriGene siRNA: INS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INS
		Sirion Biotech Custom design and validation of potent shRNA sequences against INS

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for INS
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INS (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INS (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): INS (NM_000207)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for INS
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		Sirion Biotech Customized stable knockdown cell line services for INS Sirion Biotech Customized inducible knockdown cell line services for INS Sirion Biotech Customized stable overexpressing cell line services for INS Sirion Biotech Customized inducible overexpressing cell line services for INS

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for INS

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/51 super-pathways (see all 51) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development_CNTF receptor signaling

8/10 pathways (see all 10)
Transcription Receptor-mediated HIF regulation	0.43	Translation Insulin regulation of translation	0.35
Transcription_Receptor-mediated HIF regulation	0.43	Translation _Regulation of EIF2 activity	0.25
Regulation of lipid metabolism_Insulin signaling-generic cascades	0.35	Translation Regulation activity of EIF2	0.25
Translation_Insulin regulation of translation	0.35	mTOR signaling pathway	0.22

Internalisation of the insulin receptor

8/9 pathways (see all 9)
Internalisation of the insulin receptor	1.00	Insulin degradation	0.50
SHC activation	0.67	IRS activation	0.40
Translocation of Cystine-bonded Proinsulin from the Endoplasmic Reticulum to the Golgi	0.50	Translocation of Insulin Secretory Granules to Cell Cortex	0.33
Transport of Proinsulin-Zinc-Calcium Complex to Immature Secretory Granule	0.50	Signal attenuation	0.15

IRS-related events

	IRS-related events	1.00			Signaling by Insulin receptor	0.74
	Insulin receptor signalling cascade	0.94

Regulation of beta-cell development

	Regulation of beta-cell development	1.00			Regulation of gene expression in beta cells	0.56
	Maturity onset diabetes of the young	0.56

Amyloid precursor proteins form ordered fibrils

Amyloid precursor proteins form ordered fibrils

1.00

Amyloids

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 EMD Millipore Pathways for INS (see all 8)

	Transcription Transcription factor Tubby signaling pathways
	Translation Insulin regulation of translation
	Translation Regulation activity of EIF2
	Selected targets of CREB1
	Selected targets of GCR-alpha

1 R&D Systems Pathway for INS

Adipocytokines & Insulin Signaling

5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for INS (see all 9)

	eIF2 Pathway
	mTOR Pathway
	SOCS Pathway
	AMPK Enzyme Complex Pathway
	p70S6K Signaling

1 Cell Signaling Technology (CST) Pathway for INS

Glucose / Energy Metabolism

5 GeneGo (Thomson Reuters) Pathways for INS

	Translation Insulin regulation of translation
	Transcription Receptor-mediated HIF regulation
	Transcription Transcription factor Tubby signaling pathways
	Regulation of lipid metabolism Insulin signaling-generic cascades
	Translation Regulation of EIF2 activity

5/14 BioSystems Pathways for INS (see all 14)

	Senescence and Autophagy
	Adipogenesis
	SREBP signalling
	AGE/RAGE pathway
	Folate Metabolism

5/31 Reactome Pathways for INS (see all 31)

	Insulin receptor recycling
	Developmental Biology
	SHC-related events
	Metabolism
	Regulation of beta-cell development

1 PharmGKB Pathway for INS

Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

5/11 Kegg Pathways (Kegg details for INS) (see all 11):

	Oocyte meiosis
	Regulation of autophagy
	mTOR signaling pathway
	Regulation of actin cytoskeleton
	Insulin signaling pathway

INS for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for INS

5/22 Interacting proteins for INS (P01308^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
INS	P01308²	MINT-25025 MINT-8400034 MINT-8400062 MINT-8413743 MINT-8400091 MINT-8400115 MINT-8413680 MINT-8400105 MINT-8400130 MINT-8400074 MINT-8400048 MINT-25072
MAPK6	Q16659²^,³	MINT-8261296 I2D: score=2
ENSG00000225824	P01920³	I2D: score=1
ENSG00000231286	P01920³	I2D: score=1
ENSG00000233209	P01920³	I2D: score=1

About this table

Gene Ontology (GO): 5/60 biological process terms (GO ID links to tree view) (see all 60): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPK cascade	IDA	11278339
GO:0002674	negative regulation of acute inflammatory response	IDA	11443198
GO:0006006	glucose metabolic process	IEA	--
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	12881524

INS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

INS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for INS
UniProtKB/Swiss-Prot: INS_HUMAN, P01308

Pharmaceutical: Available under the names Humulin or Humalog (Eli Lilly) and Novolin (Novo Nordisk). Used in the

treatment of diabetes. Humalog is an insulin analog with 52-Lys-Pro-53 instead of 52-Pro-Lys-53

2 DrugBank Compounds for INS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
M-Cresol	--	108-39-4	target	--	17139284 17016423 10592235
MYRISTIC ACID	--	--	target	--	10592235

10/128 Novoseek chemical compound relationships for INS gene (see all 128) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose	98.1	72789	14694215 (12), 8243832 (10), 17224332 (10), 8156098 (10) (see all 99)
c-peptide	96	6299	15375153 (9), 15640407 (8), 16510765 (8), 12831633 (7) (see all 99)
metformin	93.1	3189	16294070 (9), 10928231 (9), 9101010 (8), 18463376 (8) (see all 99)
cholesterol	90.1	6187	14636288 (8), 14657199 (8), 8243874 (8), 10673252 (7) (see all 99)
sulfonylurea	88.7	1046	1828656 (7), 8591697 (6), 2209344 (5), 9454524 (5) (see all 99)
lipid	88.3	5811	15759111 (7), 19897010 (7), 18460913 (6), 15985488 (6) (see all 99)
incretin	87.5	377	16478775 (4), 11522713 (3), 19375579 (3), 12788877 (3) (see all 99)
pioglitazone	86.5	1015	15531002 (9), 19889003 (8), 17587394 (7), 20407626 (7) (see all 99)
rosiglitazone	86	1042	18074413 (7), 16183427 (7), 15504990 (6), 12466369 (5) (see all 99)
fatty acid	83.6	2038	16788709 (6), 1843205 (6), 19782765 (6), 15767857 (5) (see all 99)

Search CenterWatch for drugs/clinical trials and news about INS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for INS gene (3 alternative transcripts):

NM_000207.2 NM_001185097.1 NM_001185098.1

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

ENST00000397262(uc021qcd.1) ENST00000250971(uc009ydg.1 uc001lvn.2)

ENST00000381330(uc001lvo.1) ENST00000421783 ENST00000512523

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INS
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate INS
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		Sirion Biotech Custom design and validation of potent shRNA sequences against INS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INS (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INS (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): INS (NM_000207)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for INS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat INS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INS

24/90 AceView cDNA sequences (see all 90):

BM313817 BU070041 BQ267229 BM894193 BM272667 AW582863 BI710887 BU073097

BQ478503 BM504106 BQ128309 BM313656 BI468582 BM313741 BM310312 BI711340

BM310343 BM504333 BQ614404 BM565484 BQ549803 BQ267325 BM509217 BQ549778

GeneLoc Exon Structure

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

INS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

INS expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pancreas

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Selective marker (cell-identifying gene)

Pancreas

Dorsal Pancreatic Bud

Intermediate Beta Progenitor Cells

Pancreas

Islets of Langerhans

Mature Beta Cells

Pancreas

Ventral Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Intermediate Beta Progenitor Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12)

Name

Category

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Pancreatic-like cells (Derivation of pancre...)

beta-like cells (Generation of beta c...)

Endocrine progenitors (Generation of pancre...)

Posterior foregut (Generation of pancre...)

Pancreatic-like islets (Derivation of beta c...)

beta-like cells (Derivation of beta c...)

beta-like cells (Serum-free protocol ...)

Islet-like clusters (Serum-free protocol ...)

Genevestigator expression for INS

SABiosciences Expression via Pathway-Focused PCR Arrays including INS (see all 17):

Insulin Signaling Pathway in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Autophagy in human mouse rat

Alzheimer's Disease in human mouse rat

Cell Lineage Identification in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat INS
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INS

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for INS

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for INS gene from 5/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ins2^{1 , 5}	insulin II^{1, 5}	82.42(n)¹ 81.82(a)¹		7 (88.00 cM)⁵ 16334¹ NM_001185084.1¹ NP_001172013.1¹ 142678656⁵
chicken (Gallus gallus)	Aves	INS¹	insulin	65.11(n) 65.42(a)		396145 NM_205222.2 NP_990553.1
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 → many	1(69967296-69968942)
African clawed frog (Xenopus laevis)	Amphibia	M24442.1²	--	79.94(n)		M24442.1
zebrafish (Danio rerio)	Actinopterygii	ins²	preproinsulin	74.94(n)		30262 AF036326.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for INS gene

INS-IGF2²

3 SIMAP similar genes for INS using alignment to 5 protein entries: INS_HUMAN (see all proteins):

INS-IGF2 IGF-I IGF1

INS for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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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
				--	--	--		--	--
rs5507^1,2	C,F	non-pathogenic	2181243(-)	`CTGCGC/TGGCAC`	5	--	int¹		9		MN EU CA EA WA CSA NS	1138
rs5505^1,2	C,F	non-pathogenic	2182210(-)	`ACTGTC/TCTTCT`	5	--	ut5¹ nc-transcript-variant		17		MN EU CA EA WA CSA NS NA	2305
rs80356672^1,2	C	pathogenic	2181092(-)	`GAACTA/GCTGCA`	8	Y C	int¹ mis¹		0	--	--	--	--
rs80356671^1,2	C	pathogenic	2181128(-)	`ATGCTA/C/GTACCA`	11	Y S C	mis¹ int¹		0	--	--	--	--
rs80356670^1,2	C	pathogenic	2181147(-)	`AGCGTG/TGCATT`	8	G C	int¹ mis¹		0	--	--	--	--
rs28933985^1,2	C,F	pathogenic	2181149(-)	`GAAGCA/C/G/T TGGCA`	14	H P R L	mis¹ int¹		3		NS NA	182
rs80356669^1,2	C	pathogenic	2181150(-)	`AGAAGC/TGTGGC`	8	R C	mis¹ int¹		0	--	--	--	--
rs74388838^1,2	C	--	2180545(+)	`GGCAGC/GCTCTC`	5	--	int¹ ds500¹		0	--	--	--	--
rs188756470^1,2		--	2180764(+)	`AGTGGC/TCCCAC`	5	--	int¹ ds500¹		0	--	--	--	--
rs3842756^1,2	C,F,H	--	2180772(-)	`CAGGGG/ATGGTG`	5	--	ds500¹ int¹		24		EU CA EA WA CSA NS NA	3184

HapMap Linkage Disequilibrium report for INS (2181009 - 2182571 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for INS: --
Human Gene Mutation Database (HGMD): INS

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INS

DNA2.0 Custom Variant and Variant Library Synthesis for INS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

INS for disorders           About GeneDecksing

OMIM gene information: 176730
OMIM disorders: 613370  606176  125852
UniProtKB/Swiss-Prot: INS_HUMAN, P01308

Defects in INS are the cause of familial hyperproinsulinemia (FHPRI) [MIM:176730]

Defects in INS are a cause of diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]. IDDM2 is a

multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence

of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced

osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes,

kidneys, nerves, and blood vessels

Defects in INS are a cause of diabetes mellitus permanent neonatal (PNDM) [MIM:606176]. PNDM is a rare form of

diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring

hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy

Defects in INS are a cause of maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]. MODY10 is a

form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early

adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at

the beginning of the disease

20/456 diseases for INS (see all 456): About MalaCards

3-hydroxyacyl-coa dehydrogenase deficiency maturity-onset diabetes of the young, type 10 immunodysregulation, polyendocrinopathy and enteropathy x-linked rabson-mendenhall syndrome

maturity-onset diabetes of the young carotid intimal medial thickness diabetes mellitus, insulin-dependent, 2 johanson-blizzard syndrome

spinal stenosis persistent hyperinsulinemic hypoglycemia of infancy maturity-onset diabetes of the young, type 3 21-hydroxylase deficiency

acanthosis nigricans necrobiosis lipoidica neonatal diabetes mellitus fetal macrosomia

hypoglycemic coma hyperproinsulinemia, familial, with or without diabetes acromegaloid features spinal cord injury

20/60 diseases from the University of Copenhagen DISEASES database for INS (see all 60):

Diabetes mellitus Hypoglycemia Hyperglycemia Hyperinsulinism

Polycystic ovary syndrome Hypertension Heart disease Hyperandrogenism

Atherosclerosis Pancreatic cancer Acanthosis nigricans Adenoma

Diabetic retinopathy Hyperinsulinemic hypoglycemia Fatty liver disease Kidney failure

Neuropathy Autonomic neuropathy Lipodystrophy Acromegaly

10/96 Novoseek disease relationships for INS gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulin resistance	99	64976	15209435 (13), 16489319 (13), 17588192 (12), 20419831 (12) (see all 99)
insulin sensitivity	98	30603	20093961 (11), 8174845 (11), 9797852 (11), 11079822 (10) (see all 99)
diabetes mellitus insulin-dependent	97.1	9678	2004172 (7), 9551692 (7), 1756017 (7), 7970366 (7) (see all 99)
niddm	96.3	8629	10996359 (9), 9538982 (9), 9715376 (9), 10421979 (8) (see all 99)
hyperinsulinemia	96.1	4397	16489319 (10), 7700881 (7), 8576790 (6), 2202884 (6) (see all 99)
obesity	95.2	9985	14694215 (8), 18457598 (7), 9869004 (7), 16353333 (7) (see all 99)
hypoglycemia	95.2	5243	10975210 (8), 9162611 (8), 18484562 (8), 11544612 (8) (see all 99)
hyperglycemia	94.8	4252	1452531 (6), 2272633 (5), 18596634 (5), 19487929 (5) (see all 99)
diabetes mellitus	93.7	3996	1357169 (6), 9509457 (5), 8913409 (5), 1966582 (4) (see all 99)
impaired glucose tolerance	93.7	1378	8462385 (6), 8609839 (5), 2075783 (4), 1838062 (4) (see all 99)

Genatlas disease: INS

diabetes,with hyperproinsulinemia,putative susceptibility factor for obesity in association with IgF2 in British

population

GeneTests: INS

Permanent Neonatal Diabetes Mellitus

Genetic Association Database (GAD): INS
Human Genome Epidemiology (HuGE) Navigator: INS (430 documents)

Export disorders for INS 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)
About This Section

PubMed articles for INS gene, integrated from 9 sources (see all 15233):
(articles sorted by number of sources associating them with INS)

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Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. (PubMed id 8358440)^{1, 2, 4} Lucassen A.M.... Bell J.I. (1993)
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. (PubMed id 3470784)^{1, 2, 4} Chan S.J.... Steiner D.F. (1987)
Sequence of the human insulin gene. (PubMed id 6243748)^{1, 2, 3} Bell G.I....Goodman H.M. (1980)
Insulinomas and expression of an insulin splice variant. (PubMed id 15070567)^{1, 2, 9} Minn A.H.... Shalev A. (2004)
Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus. (PubMed id 15095040)^{1, 4, 9} Shaat N....Groop L. (2004)
Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk. (PubMed id 15678496)^{1, 4, 9} Neuhausen S.L....Brothman A.R. (2005)
Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings. (PubMed id 14693412)^{1, 4, 9} Sanchez-Corona J....Hanson R.L. (2004)
Polymorphism of the insulin gene is associated with increased prostate cancer risk. (PubMed id 12610512)^{1, 4, 9} Ho G.Y....Chua S.C. (2003)
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. (PubMed id 18162506)^{1, 2, 9} Edghill E.L....Ellard S. (2008)
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (PubMed id 18192540)^{1, 2, 9} Molven A....Njolstad P.R. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 3630	HGNC: 6081	AceView: INS	Ensembl:ENSG00000254647	euGenes: HUgn3630
ECgene: INS	Kegg: 3630	H-InvDB: INS

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for INS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/INS
Insulin at Eli Lilly	http://www.lillyDiabetes.com/Products/PatientInfo.cfm
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt009.shtml
Wikipedia	http://en.wikipedia.org/wiki/Insulin

Intellectual Property for INS 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 gene:
Search GeneIP for patents involving INS

GeneCards and IP:
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INS Gene

insulin

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Fatty Liver
Diabetic Ketoacidosis
Microalbuminuria
Hyperinsulinemia
Genetic Susceptibility
essential hypertension
Obesity Morbid
Hyperlipidemia
Glucose Intolerance
insulin sensitivity
Liver diseases
Atherosclerosis
Prediabetic State
Fetal Macrosomia
Insulin Coma
Nesidioblastosis
Hypercholesterolemia
Hypoglycemia
Diabetes Mellitus Insulin-Dependent
LIPODYSTROPHY, FAMILIAL PARTIAL
Hypopituitarism
Hyperlipidemia Familial Combined
Lipid Disorders
Dyslipidemia
RENAL DISEASE
diabetic cardiomyopathy
hyperglucagonemia
Inflammation
Neonatal hypoglycemia
Ketosis
Diabetic Nephropathies
Microangiopathy Diabetic
SHORT STATURE
Proteinuria
Insulinoma
Hyperglycemia
Brittle diabetes
AUTONOMIC NEUROPATHY
Cardiovascular Diseases
metabolic disorder
Autoimmunity
Necrosis
ketoacidosis
Hyperinsulinism
ENDOCRINE DISORDER
Hyperandrogenism
Anovulation
Coronary Heart Disease
HYPERURICEMIA
Autoimmune Diseases
Pituitary Diseases
HYPERTENSION ARTERIAL
Critically Ill
insulin tolerance
PARTIAL LIPODYSTROPHY
Diabetic Angiopathies
RABSON-MENDENHALL SYNDROME
Reactive hypoglycemia
Diabetes Gestational
retinopathy
Acromegaly
Diabetes Mellitus
HYPEROSMOLAR COMA
Diabetic Retinopathy
MENSTRUAL IRREGULARITY
Permanent Neonatal Diabetes Mellitus
LEPRECHAUNISM
Metabolic Syndrome X
Acanthosis Nigricans
Albuminuria
dyslipoproteinemia
INSULIN LIPODYSTROPHY
Coronary Artery Disease
Hypoglycemic coma
Diabetic Neuropathies
growth hormone deficiency
Insulin Resistance
impaired glucose tolerance
Hypertriglyceridemia
OBESITY
Lipodystrophy
Polycystic Ovary Syndrome
carbohydrate metabolism disorder
fluid retention
Vascular Diseases
Neonatal diabetes mellitus
LIPODYSTROPHY, CONGENITAL GENERALIZED
Oligomenorrhea
NIDDM
Syndrome X
Diabetes Autoimmune
Polycystic ovaries
Diabetic Coma
Spontaneous hypoglycemia
Renal Failure Chronic
Hypogonadism
Stiff-Man Syndrome

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INS Gene

insulin

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