Human Gene IGF2 (uc009ydf.3)
  Description: Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 3, mRNA.
RefSeq Summary (NM_001127598): This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010].
Transcript (Including UTRs)
   Position: hg19 chr11:2,150,342-2,162,341 Size: 12,000 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr11:2,154,217-2,161,526 Size: 7,310 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:2,150,342-2,162,341)mRNA (may differ from genome)Protein (236 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C9JAF2_HUMAN
DESCRIPTION: SubName: Full=Insulin-like growth factor II Ala-25 Del;
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the insulin family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IGF2
CDC HuGE Published Literature: IGF2
Positive Disease Associations: , Beckwith Wiedemann syndrome , birth weight fetal growth , body mass , body mass; triglycerides; blood pressure, arterial , Diabetes Mellitus, Type 1 , diabetes, type 2 insulin , diabetes, type 2; obesity , eating disorder , gestational diabetes mellitus , glaucoma, primary open-angle , hepatitis B liver cancer , insulin; obesity , Obesity and insulin response , prostate cancer
Related Studies:

  1. Ken Nagaya , et al. Pediatric research 2009 66(2):135-9, Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese., Pediatric research 2009 66(2):135-9. [PubMed 19390492]
  2. Beckwith Wiedemann syndrome
    Murrell, A. et al. 2003, An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interactionbetween genotype and epigenotype., Human molecular genetics. 2004 Jan;13(2):247-55. [PubMed 14645199]
    There was a significant increase in the frequency of the CAGA haplotype and a significant decrease in the frequency of the CATG haplotype in the patient cohort compared to controls. These associations were still significant in a BWS subgroup with KvDMR1 LOM, suggesting that the G allele at T382G SNP (CAGA haplotype) is associated with LOM at KvDMR1. This indicates either a genetic predisposition to LOM, or interactions between genotype and epigenotype that impinge on the disease phenotype.
  3. birth weight fetal growth
    Kaku, K. et al. 2007, Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth, Acta Paediatr 2007 96(3) 363-7. [PubMed 17407457]
    These findings indicate that both IGF2 and IGF2R gene variants are associated with fetal growth.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IGF2
Diseases sorted by gene-association score: growth restriction, severe, with distinctive facies* (969), silver-russell syndrome* (548), silver-russell syndrome due to a point mutation* (350), hemihyperplasia, isolated* (247), chromosome 11p15.5-related russell-silver syndrome* (100), silver-russell syndrome due to an imprinting defect of 11p15* (25), silver-russell syndrome due to 11p15 microduplication* (25), beckwith-wiedemann syndrome (19), adrenal carcinoma (19), choroid plexus papilloma (18), beckwith-wiedemann syndrome due to imprinting defect of 11p15* (18), breast cancer, childhood (17), congenital mesoblastic nephroma (15), osteochondrosis (15), rhabdomyosarcoma (15), hepatoblastoma (15), bladder leiomyoma (15), hypoglycemic coma (15), fetal macrosomia (13), mucopolysaccharidosis type iiib (13), hemangiopericytoma, malignant (13), potter's syndrome (12), hypoglycemia (12), meninges hemangiopericytoma (11), uterine fibroid (11), islet cell tumor (11), wilms tumor susceptibility-5 (10), adrenal cortical carcinoma (10), embryonal rhabdomyosarcoma (10), clear cell sarcoma (10), blastoma (9), hyperinsulinemic hypoglycemia (9), diabetes mellitus, insulin-dependent, 2 (9), proteus syndrome, somatic (9), laron dwarfism (9), rhabdoid cancer (9), diabetes mellitus, insulin-dependent, 3 (9), skeletal muscle cancer (8), bladder benign neoplasm (8), umbilical hernia (8), benign mesenchymoma (7), insulin-like growth factor i (7), hypomelanosis of ito (7), acromegaly (7), small intestine leiomyosarcoma (7), meninges sarcoma (7), small intestinal sarcoma (7), gastric leiomyosarcoma (7), frozen shoulder (7), leiomyosarcoma (7), complete androgen insensitivity syndrome (7), seminoma (7), atypical teratoid rhabdoid tumor (6), leiomyoma (6), papilloma (6), breast cancer (6), fasting hypoglycemia (6), endocrine pancreas disease (6), silver spastic paraplegia syndrome (6), wilson-turner syndrome (6), hemihypertrophy (5), hyperostosis, endosteal (5), orbital cyst (5), periosteal osteogenic sarcoma (5), cerebral neuroblastoma (5), phyllode tumor (5), acinar cell carcinoma (5), hereditary wilms' tumor (5), colorectal cancer (5), pseudopapilledema (5), ocular hyperemia (5), embryonal carcinoma (5), fetal alcohol spectrum disorder (5), iris disease (4), adult syndrome (4), hallermann-streiff syndrome (4), spinal canal and spinal cord meningioma (4), spinal meningioma (4), rubeosis iridis (4), congenital muscular dystrophy due to lmna mutation (4), juxtacortical osteosarcoma (4), hepatocellular carcinoma (3), prostate cancer (2), medulloblastoma (2), obesity (2), osteosarcoma, somatic (2), ewing sarcoma (2), gastrointestinal stromal tumor (2), stomach cancer (2), diabetes mellitus, insulin-dependent (2), meningioma, familial (2), eye disease (2), pancreas disease (2), muscle cancer (1), gastrointestinal system cancer (1), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.68 RPKM in Cervix - Endocervix
Total median expression: 37.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.47258-0.463 Picture PostScript Text
3' UTR -1432.053875-0.370 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022334 - IGF2
IPR013576 - IGF2_C
IPR016179 - Insulin-like
IPR022350 - Insulin-like_growth_factor
IPR022353 - Insulin_CS
IPR022352 - Insulin_family

Pfam Domains:
PF00049 - Insulin/IGF/Relaxin family
PF08365 - Insulin-like growth factor II E-peptide

SCOP Domains:
56994 - Insulin-like

ModBase Predicted Comparative 3D Structure on C9JAF2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF205115 - JP 2014500723-A/12618: Polycomb-Associated Non-Coding RNAs.
LF207985 - JP 2014500723-A/15488: Polycomb-Associated Non-Coding RNAs.
BC011786 - Homo sapiens insulin-like growth factor 2 (somatomedin A), mRNA (cDNA clone IMAGE:4100006).
BC073756 - Homo sapiens cDNA clone IMAGE:4123567, partial cds.
BC042127 - Homo sapiens insulin-like growth factor 2 (somatomedin A), mRNA (cDNA clone IMAGE:4123447).
AF318382 - Homo sapiens pp9974 mRNA, complete cds.
AK025719 - Homo sapiens cDNA: FLJ22066 fis, clone HEP10611.
LF370721 - JP 2014500723-A/178224: Polycomb-Associated Non-Coding RNAs.
LF207987 - JP 2014500723-A/15490: Polycomb-Associated Non-Coding RNAs.
JD487578 - Sequence 468602 from Patent EP1572962.
JD390777 - Sequence 371801 from Patent EP1572962.
AY971350 - Homo sapiens cell growth-inhibiting protein 44 mRNA, complete cds.
KJ901508 - Synthetic construct Homo sapiens clone ccsbBroadEn_10902 IGF2 gene, encodes complete protein.
LF370722 - JP 2014500723-A/178225: Polycomb-Associated Non-Coding RNAs.
JD035981 - Sequence 17005 from Patent EP1572962.
JD019672 - Sequence 696 from Patent EP1572962.
LF370723 - JP 2014500723-A/178226: Polycomb-Associated Non-Coding RNAs.
JD479855 - Sequence 460879 from Patent EP1572962.
JD384837 - Sequence 365861 from Patent EP1572962.
LF370724 - JP 2014500723-A/178227: Polycomb-Associated Non-Coding RNAs.
JD027314 - Sequence 8338 from Patent EP1572962.
JD023052 - Sequence 4076 from Patent EP1572962.
JD366035 - Sequence 347059 from Patent EP1572962.
JD035723 - Sequence 16747 from Patent EP1572962.
JD021903 - Sequence 2927 from Patent EP1572962.
JD024039 - Sequence 5063 from Patent EP1572962.
JD024040 - Sequence 5064 from Patent EP1572962.
JD026387 - Sequence 7411 from Patent EP1572962.
JD028983 - Sequence 10007 from Patent EP1572962.
LF370726 - JP 2014500723-A/178229: Polycomb-Associated Non-Coding RNAs.
JD275876 - Sequence 256900 from Patent EP1572962.
LF370728 - JP 2014500723-A/178231: Polycomb-Associated Non-Coding RNAs.
LF370729 - JP 2014500723-A/178232: Polycomb-Associated Non-Coding RNAs.
JD022902 - Sequence 3926 from Patent EP1572962.
JD027329 - Sequence 8353 from Patent EP1572962.
JD034069 - Sequence 15093 from Patent EP1572962.
JD025057 - Sequence 6081 from Patent EP1572962.
JD035406 - Sequence 16430 from Patent EP1572962.
JD028425 - Sequence 9449 from Patent EP1572962.
LF370730 - JP 2014500723-A/178233: Polycomb-Associated Non-Coding RNAs.
DQ104203 - Homo sapiens insulin-like growth factor type 2 (IGF2) mRNA, complete cds, alternatively spliced.
DQ104205 - Homo sapiens INSIGF long transcript variant mRNA, complete cds, alternatively spliced.
LF370731 - JP 2014500723-A/178234: Polycomb-Associated Non-Coding RNAs.
LF370732 - JP 2014500723-A/178235: Polycomb-Associated Non-Coding RNAs.
S77035 - insulin-like growth factor II [human, small cell lung cancer cell line T3M-11, mRNA, 1322 nt].
BC053318 - Homo sapiens insulin-like growth factor 2 (somatomedin A), mRNA (cDNA clone IMAGE:6284227), partial cds.
AF217977 - Homo sapiens clone PP1446 unknown mRNA.
BC000531 - Homo sapiens insulin-like growth factor 2 (somatomedin A), mRNA (cDNA clone MGC:8683 IMAGE:2964584), complete cds.
AK291594 - Homo sapiens cDNA FLJ78037 complete cds, highly similar to Homo sapiens insulin-like growth factor 2 (somatomedin A), mRNA.
LF370733 - JP 2014500723-A/178236: Polycomb-Associated Non-Coding RNAs.
J03242 - Human insulin-lke growth factor II mRNA, complete cds.
M29645 - Human insulin-like growth factor II mRNA, complete cds.
X00910 - Homo sapiens mRNA for preproinsulin-like growth factor II (IGF-II), (IGF2 gene).
JD436642 - Sequence 417666 from Patent EP1572962.
JD532819 - Sequence 513843 from Patent EP1572962.
JD218204 - Sequence 199228 from Patent EP1572962.
JD256473 - Sequence 237497 from Patent EP1572962.
LF370734 - JP 2014500723-A/178237: Polycomb-Associated Non-Coding RNAs.
JD393456 - Sequence 374480 from Patent EP1572962.
X06159 - Human mRNA for insulin-like growth factor II (clone P35).
JD203708 - Sequence 184732 from Patent EP1572962.
M17863 - Human preproinsulin-like growth factor II (IGF-II) variant mRNA, complete cds.
JD141471 - Sequence 122495 from Patent EP1572962.
JD060048 - Sequence 41072 from Patent EP1572962.
JD141335 - Sequence 122359 from Patent EP1572962.
DQ892721 - Synthetic construct clone IMAGE:100005351; FLH189105.01X; RZPDo839B0874D insulin-like growth factor 2 (somatomedin A) (IGF2) gene, encodes complete protein.
DQ895970 - Synthetic construct Homo sapiens clone IMAGE:100010430; FLH189101.01L; RZPDo839B0864D insulin-like growth factor 2 (somatomedin A) (IGF2) gene, encodes complete protein.
AK313938 - Homo sapiens cDNA, FLJ94578, Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2),mRNA.
M17426 - Human prepro-insulin-like growth factor II (prepro-IGF-II) mRNA, complete cds.
KJ891442 - Synthetic construct Homo sapiens clone ccsbBroadEn_00836 IGF2 gene, encodes complete protein.
BT007013 - Homo sapiens insulin-like growth factor 2 (somatomedin A) mRNA, complete cds.
AB528666 - Synthetic construct DNA, clone: pF1KB6885, Homo sapiens IGF2 gene for insulin-like growth factor 2, without stop codon, in Flexi system.
LF370735 - JP 2014500723-A/178238: Polycomb-Associated Non-Coding RNAs.
X06160 - Homo sapiens pre-mRNA for insulin-like growth factor II precursor, clone P21.
CU674260 - Synthetic construct Homo sapiens gateway clone IMAGE:100017976 5' read IGF2 mRNA.
HM481219 - Homo sapiens insulin-like growth factor II transcript variant 3 isoform 2 (IGF2) mRNA, partial cds, alternatively spliced.
HM481220 - Homo sapiens insulin-like growth factor II transcript variant 3 isoform 1 (IGF2) mRNA, partial cds, alternatively spliced.
X06161 - Human mRNA for insulin-like growth factor II (clone P22).
LF370736 - JP 2014500723-A/178239: Polycomb-Associated Non-Coding RNAs.
S51971 - insulin-like growth factor-II {5' region} [human, placenta, mRNA Partial, 100 nt].
LF213107 - JP 2014500723-A/20610: Polycomb-Associated Non-Coding RNAs.
MA440692 - JP 2018138019-A/12618: Polycomb-Associated Non-Coding RNAs.
MA606298 - JP 2018138019-A/178224: Polycomb-Associated Non-Coding RNAs.
MA606299 - JP 2018138019-A/178225: Polycomb-Associated Non-Coding RNAs.
MA606300 - JP 2018138019-A/178226: Polycomb-Associated Non-Coding RNAs.
MA606301 - JP 2018138019-A/178227: Polycomb-Associated Non-Coding RNAs.
MA606303 - JP 2018138019-A/178229: Polycomb-Associated Non-Coding RNAs.
MA606305 - JP 2018138019-A/178231: Polycomb-Associated Non-Coding RNAs.
MA606306 - JP 2018138019-A/178232: Polycomb-Associated Non-Coding RNAs.
MA606307 - JP 2018138019-A/178233: Polycomb-Associated Non-Coding RNAs.
MA606308 - JP 2018138019-A/178234: Polycomb-Associated Non-Coding RNAs.
MA606309 - JP 2018138019-A/178235: Polycomb-Associated Non-Coding RNAs.
MA606310 - JP 2018138019-A/178236: Polycomb-Associated Non-Coding RNAs.
MA606311 - JP 2018138019-A/178237: Polycomb-Associated Non-Coding RNAs.
MA606312 - JP 2018138019-A/178238: Polycomb-Associated Non-Coding RNAs.
MA606313 - JP 2018138019-A/178239: Polycomb-Associated Non-Coding RNAs.
MA443562 - JP 2018138019-A/15488: Polycomb-Associated Non-Coding RNAs.
MA443564 - JP 2018138019-A/15490: Polycomb-Associated Non-Coding RNAs.
MA448684 - JP 2018138019-A/20610: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C9JAF2, C9JAF2_HUMAN, NM_001127598, NP_001007140
UCSC ID: uc009ydf.3
RefSeq Accession: NM_001127598
Protein: C9JAF2 CCDS: CCDS44517.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene IGF2:
bws (Beckwith-Wiedemann Syndrome)
rss (Silver-Russell Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001127598.1
exon count: 5CDS single in 3' UTR: no RNA size: 4856
ORF size: 711CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1304.00frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.