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INS-IGF2

Gene Description:   INS-IGF2 readthrough Synonyms:   INSIGF, INS-IGF2 Orthologs:   Human INS-IGF2 (protein-coding)   Sources Sources Possible sources: HomoloGene, MGD, RGD, Ensembl, Inparanoid, OrthoMCL, KEGG

Regions Overlapping this Feature:  Human: 1

Associated Regions: Available

Regions were calculated based on variants available for a large study with a convincing p-value (P < 5 x 10^-8) +/- 0.1cM, and then these regions were examined for genes based on the current set of T1DBase gene spans.

Region	Species	Chromosomal Location	Mb	Number of genes	Marker
11p15.5	Human	chr11:2068424..2308304	0.24	37	rs689 rs7111341

(Human) GRCh37 - chr11:2150342..2182439 (32.10 kb)  View in Genome Browser

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Human Mouse Rat ductal cells exocrine pancreas pancreatic islets primary beta cells Pancreatic Islets MPSS beta cell line pancreatic islets whole pancreas alpha cell beta cell line pancreatic islets primary beta cells whole pancreas no data no data no data no data no data no data no data no data no data no data no data no data no data

Expression Legend   Range 0                                                                                                     100                                                                                                       No Data The Beta Cell Gene Atlas is a collection of almost all available public microarray data generated with pancreatic beta cells and related cell lines and types. The expression data comes from 131 array analyses derived from 28 experiments (open details in a new window). The basal (untreated cell) expression signal intensity values in each array were converted to ranks within the experiments; the highest value was used for genes represented by more than one probe. The rank values of genes in a given cell type were averaged with other calculated values from experiments performed with the same cell type. The rank transformation of the expression values enable comparison of gene expression across different organisms and tissues. A red border around a cell indicates greater certainty in the data; specifically, the gene has >0.95 probability of being expressed in the tissue.

KEGG Network: None available   None available.

Biocarta: None available   None available.

Reactome: None available   None available.

NCI-Nature Pathway Interaction Database: None available   None available.

Gene Ontology: None available   None available.

	KEGG Network: None available
	Biocarta: None available
	Reactome: None available
	NCI-Nature Pathway Interaction Database: None available
	Gene Ontology: None available

Type 1 Diabetes Publications: 10

• Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
  Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T
  BMC Med Genet. 2010
  PubMed ID: 20226046
   
  
• Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
  Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O, Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR
  Diabetes. 2008
  PubMed ID: 18192540
   
  
• 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.
  Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI, Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S
  Diabetes. 2008
  PubMed ID: 18162506
   
  
• Insulin gene mutations as a cause of permanent neonatal diabetes.
  Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI, Neonatal Diabetes International Collaborative Group
  Proc Natl Acad Sci U S A. 2007
  PubMed ID: 17855560
   
  
• A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
  Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C
  Nature. 2007
  PubMed ID: 17632545
   
  
• Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity.
  Tait KF, Collins JE, Heward JM, Eaves I, Snook H, Franklyn JA, Barnett AH, Todd JA, Maranian M, Compston A, Sawcer S, Gough SC
  Diabet Med. 2004
  PubMed ID: 15008838
   
  
• The effect of parental imprinting on the INS-IGF2 locus of Korean type I diabetic patients.
  Kim HS, Lee DW, Lee SJ, Choi BH, Chang SI, Yoon HD, Lee IK
  Korean J Intern Med. 2001
  PubMed ID: 11855150
   
  
• Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus.
  Polychronakos C, Kukuvitis A, Giannoukakis N, Colle E
  Diabetologia. 1995
  PubMed ID: 7672495
   
  
• Imprinting of IGF2, insulin-dependent diabetes, immune function, and apoptosis: a hypothesis.
  Polychronakos C, Giannoukakis N, Deal CL
  Dev Genet. 1995
  PubMed ID: 8565331
   
  
• Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR.
  Lucassen AM, Julier C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI
  Nat Genet. 1993
  PubMed ID: 8358440
   
  

Publications: 41

• Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators
  Diabetes Care. 2010
  PubMed ID: 20628086
   
  
• Expression of conjoined genes: another mechanism for gene regulation in eukaryotes.
  Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y, Fujikake T, Takeda T, Taylor TD
  PLoS One. 2010
  PubMed ID: 20967262
   
  
• Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium
  Am J Hum Genet. 2009
  PubMed ID: 19913121
   
  
• Association between small for gestational age and paternally inherited 5' insulin haplotypes.
  Adkins RM, Krushkal J, Klauser CK, Magann EF, Morrison JC, Somes G
  Int J Obes (Lond). 2008
  PubMed ID: 17700581
   
  
• Association between paternally inherited haplotypes upstream of the insulin gene and umbilical cord IGF-II levels.
  Adkins RM, Fain JN, Krushkal J, Klauser CK, Magann EF, Morrison JC
  Pediatr Res. 2007
  PubMed ID: 17667841
   
  
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
  Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tîrgovişte C, Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC, Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS, Clayton DG
  Nat Genet. 2007
  PubMed ID: 17554260
   
  
• Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.
  Monk D, Sanches R, Arnaud P, Apostolidou S, Hills FA, Abu-Amero S, Murrell A, Friess H, Reik W, Stanier P, Constância M, Moore GE
  Hum Mol Genet. 2006
  PubMed ID: 16531418
   
  
• Human chromosome 11 DNA sequence and analysis including novel gene identification.
  Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y
  Nature. 2006
  PubMed ID: 16554811
   
  
• Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
  Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S
  Genome Res. 2006
  PubMed ID: 16344560
   
  
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
  Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
  Genome Res. 2004
  PubMed ID: 15489334
   
  
• Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
  Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW
  Nat Biotechnol. 2004
  PubMed ID: 15146197
   
  
• Insulinomas and expression of an insulin splice variant.
  Minn AH, Kayton M, Lorang D, Hoffmann SC, Harlan DM, Libutti SK, Shalev A
  Lancet. 2004
  PubMed ID: 15070567
   
  
• Global haplotype diversity in the human insulin gene region.
  Stead JD, Hurles ME, Jeffreys AJ
  Genome Res. 2003
  PubMed ID: 12952878
   
  
• Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
  Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ
  Proc Natl Acad Sci U S A. 2000
  PubMed ID: 10737800
   
  
• Transmission ratio distortion at the INS-IGF2 VNTR.
  Eaves IA, Bennett ST, Forster P, Ferber KM, Ehrmann D, Wilson AJ, Bhattacharyya S, Ziegler AG, Brinkmann B, Todd JA
  Nat Genet. 1999
  PubMed ID: 10431232
   
  
• Solution structures of the R6 human insulin hexamer,.
  Chang X, Jorgensen AM, Bardrum P, Led JJ
  Biochemistry. 1997
  PubMed ID: 9235985
   
  
• Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia.
  Mannens M, Hoovers JM, Redeker E, Verjaal M, Feinberg AP, Little P, Boavida M, Coad N, Steenman M, Bliek J
  Eur J Hum Genet. 1994
  PubMed ID: 7913866
   
  
• Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus.
  Hua QX, Shoelson SE, Inouye K, Weiss MA
  Proc Natl Acad Sci U S A. 1993
  PubMed ID: 8421693
   
  
• Three-dimensional solution structure of an insulin dimer. A study of the B9(Asp) mutant of human insulin using nuclear magnetic resonance, distance geometry and restrained molecular dynamics.
  Jørgensen AM, Kristensen SM, Led JJ, Balschmidt P
  J Mol Biol. 1992
  PubMed ID: 1433291
   
  
• A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
  Yano H, Kitano N, Morimoto M, Polonsky KS, Imura H, Seino Y
  J Clin Invest. 1992
  PubMed ID: 1601997
   
  
• Comparative 2D NMR studies of human insulin and des-pentapeptide insulin: sequential resonance assignment and implications for protein dynamics and receptor recognition.
  Hua QX, Weiss MA
  Biochemistry. 1991
  PubMed ID: 2036420
   
  
• Two-dimensional NMR studies of Des-(B26-B30)-insulin: sequence-specific resonance assignments and effects of solvent composition.
  Hua QX, Weiss MA
  Biochim Biophys Acta. 1991
  PubMed ID: 1646635
   
  
• Toward the solution structure of human insulin: sequential 2D 1H NMR assignment of a des-pentapeptide analogue and comparison with crystal structure.
  Hua QX, Weiss MA
  Biochemistry. 1990
  PubMed ID: 2271664
   
  
• Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by pol
  Barbetti F, Raben N, Kadowaki T, Cama A, Accili D, Gabbay KH, Merenich JA, Taylor SI, Roth J
  J Clin Endocrinol Metab. 1990
  PubMed ID: 2196279
   
  
• Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II.
  Cox NJ, Bell GI, Xiang KS
  Am J Hum Genet. 1988
  PubMed ID: 2902788
   
  
• A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.
  Chan SJ, Seino S, Gruppuso PA, Schwartz R, Steiner DF
  Proc Natl Acad Sci U S A. 1987
  PubMed ID: 3470784
   
  
• Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val----Leu) isolated from the pancreas.
  Sakura H, Iwamoto Y, Sakamoto Y, Kuzuya T, Hirata H
  J Clin Invest. 1986
  PubMed ID: 3537011
   
  
• Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
  Shibasaki Y, Kawakami T, Kanazawa Y, Akanuma Y, Takaku F
  J Clin Invest. 1985
  PubMed ID: 4019786
   
  
• Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution.
  Shoelson S, Fickova M, Haneda M, Nahum A, Musso G, Kaiser ET, Rubenstein AH, Tager H
  Proc Natl Acad Sci U S A. 1983
  PubMed ID: 6424111
   
  
• Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.
  Haneda M, Chan SJ, Kwok SC, Rubenstein AH, Steiner DF
  Proc Natl Acad Sci U S A. 1983
  PubMed ID: 6312455
   
  
• Genetic variation in the human insulin gene.
  Ullrich A, Dull TJ, Gray A, Brosius J, Sures I
  Science. 1980
  PubMed ID: 6248962
   
  
• Nucleotide sequence of human preproinsulin complementary DNA.
  Sures I, Goeddel DV, Gray A, Ullrich A
  Science. 1980
  PubMed ID: 6927840
   
  
• Sequence of the human insulin gene.
  Bell GI, Pictet RL, Rutter WJ, Cordell B, Tischer E, Goodman HM
  Nature. 1980
  PubMed ID: 6243748
   
  
• Nucleotide sequence of a cDNA clone encoding human preproinsulin.
  Bell GI, Swain WF, Pictet R, Cordell B, Goodman HM, Rutter WJ
  Nature. 1979
  PubMed ID: 503234
   
  
• [Total synthesis of human insulin under directed formation of the disulfide bonds]
  Sieber P, Kamber B, Hartmann A, Jöhl A, Riniker B, Rittel W
  Helv Chim Acta. 1974
  PubMed ID: 4443293
   
  
• Studies on polypeptides, IV. The synthesis of C-peptide of human proinsulin.
  Naithani VK
  Hoppe Seylers Z Physiol Chem. 1973
  PubMed ID: 4803504
   
  
• [Synthesis of peptides with the properties of human proinsulin C peptides ( h C peptide). 3. Synthesis of the sequences 14-17 and 9-13 of human proinsulin C peptides]
  Geiger R, Volk A
  Chem Ber. 1973
  PubMed ID: 4698555
   
  
• [Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). I. Scheme for the synthesis and preparation of the sequence 28-31 of human proinsulin C peptide]
  Geiger R, Jäger G, König W, Treuth G
  Chem Ber. 1973
  PubMed ID: 4698553
   
  
• The amino acid sequence of the C-peptide of human proinsulin.
  Ko AS, Smyth DG, Marktussen J, Sundby F
  Eur J Biochem. 1971
  PubMed ID: 5560404
   
  
• Studies on human proinsulin. Isolation and amino acid sequence of the human pancreatic C-peptide.
  Oyer PE, Cho S, Peterson JD, Steiner DF
  J Biol Chem. 1971
  PubMed ID: 5101771
   
  
• Amino-acid sequence of human insulin.
  NICOL DS, SMITH LF
  Nature. 1960
  PubMed ID: 14426955
   
  

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