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INS Gene

protein-coding GIFtS: 66

GC11M001971

insulin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
insulin¹ ²		OTTHUMP00000196036²
MODY10² ⁵		OTTHUMP00000217519²
IDDM2² ⁵		OTTHUMP00000196038²
ILPR²		proinsulin²
IRDN²

External Ids:	HGNC: 6081¹	Entrez Gene: 3630²	Ensembl: ENSG00000129965⁷	UniProtKB: P01308³

Export aliases for INS gene to outside databases

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

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the INS gene promoter:
         Egr-1   deltaCREB   CREB   HNF-4alpha2   GR-beta   GR-alpha   FOXO1a   C/EBPalpha   GATA-3   ATF-2
         Other transcription factors

Search SABiosciences Chromatin IP Primers for INS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M001971: view genomic region (about GC identifiers)

Start:	1,971,272 bp from pter
End:	1,972,702 bp from pter
Size:	1,431 bases
Orientation:	minus strand

1 alternative location:

Chr11- 2,153,768-2,182,571

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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;

PDB structures from and Proteopedia :

1A7F (3D)

1AI0 (3D)

1AIY (3D)

1B9E (3D)

1BEN (3D)

1EFE (3D)

1EV3 (3D)

1EV6 (3D)

1EVR (3D)

1FU2 (3D)

1FUB (3D)

1G7A (3D)

1G7B (3D)

1GUJ (3D)

1HIQ (3D)

1HIS (3D)

1HIT (3D)

1HLS (3D)

1HTV (3D)

1HUI (3D)

1IOG (3D)

1IOH (3D)

1J73 (3D)

1JCA (3D)

1JCO (3D)

1K3M (3D)

1KMF (3D)

1LKQ (3D)

1LPH (3D)

1MHI (3D)

1MHJ (3D)

1MSO (3D)

1OS3 (3D)

1OS4 (3D)

1Q4V (3D)

1QIY (3D)

1QIZ (3D)

1QJ0 (3D)

1RWE (3D)

1SF1 (3D)

1SJT (3D)

1SJU (3D)

1T0C (3D)

1T1K (3D)

1T1P (3D)

1T1Q (3D)

1TRZ (3D)

1TYL (3D)

1TYM (3D)

1UZ9 (3D)

1VKT (3D)

1W8P (3D)

1XDA (3D)

1XGL (3D)

1XW7 (3D)

1ZEG (3D)

1ZEH (3D)

1ZNJ (3D)

2AIY (3D)

2C8Q (3D)

2C8R (3D)

2CEU (3D)

2G54 (3D)

2G56 (3D)

2H67 (3D)

2HH4 (3D)

2HHO (3D)

2HIU (3D)

2JMN (3D)

2JUM (3D)

2JUU (3D)

2JUV (3D)

2JV1 (3D)

2JZQ (3D)

2K91 (3D)

2K9R (3D)

2KJJ (3D)

2KJU (3D)

2KQP (3D)

2OLY (3D)

2OLZ (3D)

2OM0 (3D)

2OM1 (3D)

2OMG (3D)

2OMH (3D)

2OMI (3D)

2QIU (3D)

2R34 (3D)

2R35 (3D)

2R36 (3D)

2RN5 (3D)

2VJZ (3D)

2VK0 (3D)

2W44 (3D)

2WBY (3D)

2WC0 (3D)

2WRU (3D)

2WRV (3D)

2WRW (3D)

2WRX (3D)

2WS0 (3D)

2WS1 (3D)

2WS4 (3D)

2WS6 (3D)

2WS7 (3D)

3AIY (3D)

3BRR (3D)

3BXQ (3D)

3E7Y (3D)

3E7Z (3D)

3EXX (3D)

3FQ9 (3D)

3HYD (3D)

3I3Z (3D)

3I40 (3D)

3ILG (3D)

3INC (3D)

3IR0 (3D)

3JSD (3D)

3KQ6 (3D)

4AIY (3D)

5AIY (3D)

Secondary accessions: Q5EEX2

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

REFSEQ proteins (3 alternative transcripts):

NP_000198.1 NP_001172026.1 NP_001172027.1

ENSEMBL proteins:

ENSP00000380440 ENSP00000380432 ENSP00000250971 ENSP00000370720 ENSP00000348986 ENSP00000408400

ENSP00000370731 ENSP00000424008

Human Recombinant Proteins

	Millipore Purified and/or Recombinant INS Protein
	Sigma-Aldrich Proteins for INS
	R&D Systems Recombinant & Natural Proteins for INS (Proinsulin)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: INS OriGene Protein Over-expression Lysate: INS
	GenScript Purified and Recombinant Proteins for INS
	Novus Biologicals Protein for INS
	Novus Biologicals Lysate for INS
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for INS

4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

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:0031904	endosome lumen	TAS	--

About this table

INS for ontologies About GeneDecksing

Antibodies for INS:

	Millipore Mono- and Polyclonal Antibodies for the study of INS
	Sigma-Aldrich Antibodies for INS
	R&D Systems Antibodies for INS (Proinsulin, Insulin)
	Cell Signaling Technology (CST) Antibodies for INS (Insulin, C-Peptide)
	OriGene Antibodies (see all 2): INS
	GenScript Superior Antibodies for INS
	Novus Biologicals Antibodies for INS
	Epitomics antibodies for INS

Assays for INS:

	Millipore Kits and Assays for the Analysis of INS
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for INS Sigma-Aldrich shRNA Panels and shRNA for INS
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): INS OriGene shRNA RFP (see all 2): INS OriGene basic RS shRNA (see all 2): INS OriGene siRNA (see all 2): INS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of INS

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of INS
		Search SABiosciences for Assays for microRNAs that regulate INS

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: INS OriGene Myc/DDK tagged cDNA clones in CMV expression vector: INS OriGene untagged cDNA clones in CMV expression vector (see all 2): INS Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for INS
		Sino Biological Human cDNA Clone for INS

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for INS

Genatlas biochemistry entry for INS:

insulin

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
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	9773776

About this table

INS for ontologies About GeneDecksing

Animal Models: 15/22 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Ins2) (see all 22):

adipose tissue	behavior/neurological	cardiovascular system	cellular	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	lethality-postnatal	life span-post-weaning/aging	liver/biliary system	nervous system

INS for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

INS for pathways About GeneDecksing

5/8 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

5/19 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for INS (see all 19)

	G Protein Signaling Mediated by Tubby
	Type I Diabetes Mellitus Signaling
	Actin Cytoskeleton Signaling
	Macropinocytosis Signaling
	PPAR Signaling

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

	hsa04114 Oocyte meiosis
	hsa04140 Regulation of autophagy
	hsa04150 mTOR signaling pathway
	hsa04810 Regulation of actin cytoskeleton
	hsa04910 Insulin signaling pathway

SABiosciences Pathway-Focused PCR Arrays including INS (see all 11): PAHS-017A PAHS-023A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for INS

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

5/108 Interacting proteins for INS (ENSP00000370731³ P01308²) via UniProtKB, MINT, and/or STRING (see all 108)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
INS	P01308²	MINT-25025 MINT-25072
AKT1	ENSP00000270202³	STRING: ENSP00000270202
AKT2	ENSP00000309428³	STRING: ENSP00000309428
CAV1	ENSP00000339191³	STRING: ENSP00000339191
CBL	ENSP00000264033³	STRING: ENSP00000264033

About this table

5/57 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 57):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPKKK cascade	IDA	11278339
GO:0002674	negative regulation of acute inflammatory response	IDA	11443198
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006006	glucose metabolic process	IEA	--
GO:0006112	energy reserve metabolic process	TAS	--

About this table

INS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

INS for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

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

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

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for INS Sigma-Aldrich shRNA Panels and shRNA for INS
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): INS OriGene shRNA RFP (see all 2): INS OriGene basic RS shRNA (see all 2): INS OriGene siRNA (see all 2): INS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of INS

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of INS
		Search SABiosciences for Assays for microRNAs that regulate INS

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: INS OriGene Myc/DDK tagged cDNA clones in CMV expression vector: INS OriGene untagged cDNA clones in CMV expression vector (see all 2): INS Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for INS

Primers:		OriGene genome-wide validated SYBR primer pairs: INS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for INS: PPH00561A

REFSEQ mRNAs for INS gene (3 alternative transcripts):

NM_000207.2 NM_001185097.1 NM_001185098.1

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

BU077500 BU783451 BQ128023 BQ267331 BM310343 BM504333 BM565484 BQ549793

BM894193 AW583768 BQ127944 BM313821 AW582863 BM505647 BI468582 BM310220

BQ267577 BQ270525 BM313776 BQ549778 BQ267229 BU070644 BM313727 BU783196

highest scoring ESTs for INS:

BI834604 AW583476 AW583977 BM272195 BM312177 BM312258 BM312616 BM509310 BM894193 BQ272071

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for INS (see all 6)

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

About this scheme

ECgene alternative splicing isoforms for INS
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000476874 ENST00000397270(uc001lvm.2) ENST00000397262(uc009ydg.1 uc001lvn.1)

ENST00000250971(uc001lvo.1) ENST00000381319 ENST00000356578 ENST00000481781

ENST00000421783 ENST00000381330 ENST00000512523

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

INS expression in normal and diseased human tissues

¹ / ² / ³

3 probe-sets matching INS gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
160038_s_at²^{, 3}	U95-A	2	1.00	0.91	1.00	1.00	J00268	0.20	1.00	0.72	1
206598_at²^{, 3}	U133-A	2	1.00	0.91	--	--	NM_000207	0.40	0.67	0.55	1
206598_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--

About this table

INS for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: --

Expression variation in blood from EXPOLDB for INS

Primers:		OriGene genome-wide validated SYBR primer pairs: INS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for INS: PPH00561A

SABiosciences Expression via Pathway-Focused PCR Arrays including INS (see all 11): PAHS-017A PAHS-023A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for INS gene from 5/8 species (see all 8)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	INS¹	--	insulin	86.06(n) 88.18(a)	483665 XM_540786.2 XP_540786.1
chimpanzee (Pan troglodytes)	INS¹	--	insulin	98.18(n) 98.18(a)	449570 NM_001008996.1 NP_001008996.1
cow (Bos taurus)	INS¹	--	insulin	83.17(n) 83.81(a)	280829 NM_173926.1 NP_776351.1
rat (Rattus norvegicus)	Ins2¹	--	insulin 2	80.91(n) 82.73(a)	24506 NM_019130.1 NP_062003.1
mouse (Mus musculus)	Ins2^{1 , 5}	7 (88.00 cM)⁵	insulin II^{1, 5}	82.42(n)¹ 81.82(a)¹	16334¹ NM_008387.3¹ NP_032413.1¹ AA986540⁵ AK007612⁵ (see all 16)

About this table Species with no ortholog for INS

ENSEMBL Gene Tree for INS (if available)

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

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs80356663^1,2	--	2182131(-)	`CGCAGA/CCTTTG`	6	D A	mis¹ ref¹		0	--	--	--	--
rs80356664^1,2	--	2182108(-)	`TGTGCA/C/GGCTCA`	9	S R G	mis¹ ref¹		0	--	--	--	--
rs80356666^1,2	--	2182075(-)	`TAGTGG/TGCGGG`	6	G C	mis¹ ref¹		0	--	--	--	--
rs80356667^1,2	--	2182062(-)	`ACGAGG/TCTTCT`	6	G V	ref¹ mis¹		0	--	--	--	--
rs80356668^1,2	--	2182059(-)	`AGGCTG/TCTTCT`	6	C F	mis¹ ref¹		0	--	--	--	--
rs121908259^1,2	--	2182185(-)	`GATGCA/GCCTCC`	6	H R	mis¹ ref¹		0	--	--	--	--
rs121908260^1,2	--	2182065(-)	`GGAACA/GAGGCT`	6	Q R	mis¹ ref¹		0	--	--	--	--
rs121908261^1,2	--	2182039(-)	`AGACCC/TGCCGG`	6	R C	ref¹ mis¹		0	--	--	--	--
rs121908272^1,2	--	2182117(-)	`ACCAAC/GACCTG`	6	H D	ref¹ mis¹		0	--	--	--	--
rs121908273^1,2	--	2182098(-)	`ACACCC/TGGTGG`	6	P L	mis¹ ref¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for INS (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for INS: --

Search QIAGEN SeqTarget long-range PCR primers for resequencing for INS

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

INS for disorders About GeneDecksing

OMIM: 176730

UniProtKB/Swiss-Prot: INS_HUMAN, P01308

Defects in INS are the cause of familial hyperproinsulinemia [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

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

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)

About this table

Genatlas disease: INS

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

population

GeneTests: INS

Permanent Neonatal Diabetes Mellitus

Human Gene Mutation Database (HGMD): INS
Genetic Association Database (GAD): INS
Human Genome Epidemiology (HuGE) Navigator: INS (408 documents)

Export disorders and mutations for INS gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/15114 PubMed articles for INS gene, integrated from 7 sources (see all 15114):
(articles sorted by number of sources associating them with INS)

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, 7} Minn A.H.... Shalev A. (2004)
Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus. (PubMed id 15095040)^{1, 4, 7} 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, 7} 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, 7} Sanchez-Corona J....Hanson R.L. (2004)
Polymorphism of the insulin gene is associated with increased prostate cancer risk. (PubMed id 12610512)^{1, 4, 7} 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, 7} 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, 7} Molven A....Njolstad P.R. (2008)

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

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3630	HGNC: 6081	AceView: INS	Ensembl:ENSG00000129965	euGenes: HUgn3630
ECgene: INS	Kegg: 3630	H-InvDB: INS

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
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://www.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 XenneX, Inc.)

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Patent Information for INS gene:
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GeneCards and IP:
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(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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Fatty Liver
Diabetic Ketoacidosis
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essential hypertension
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LIPODYSTROPHY, FAMILIAL PARTIAL
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diabetic cardiomyopathy
hyperglucagonemia
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SHORT STATURE
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LEPRECHAUNISM
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growth hormone deficiency
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OBESITY
Lipodystrophy
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LIPODYSTROPHY, CONGENITAL GENERALIZED
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INS Gene

protein-coding GIFtS: 66

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