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Aliases for INS-IGF2 Gene

Aliases for INS-IGF2 Gene

  • INS-IGF2 Readthrough 2 3 5
  • INS-IGF2 Readthrough Transcript Protein 3 4
  • Insulin- Insulin-Like Growth Factor 2 Read-Through Product 3
  • Insulin, Isoform 2 3
  • INSIGF 3

External Ids for INS-IGF2 Gene

Previous GeneCards Identifiers for INS-IGF2 Gene

  • GC11U900700
  • GC11M002124
  • GC11M002116
  • GC11M002119
  • GC11M002120
  • GC11M001940
  • GC11M002171
  • GC11M002131
  • GC11M002132
  • GC11M002133
  • GC11M002135
  • GC11M002142

Summaries for INS-IGF2 Gene

Entrez Gene Summary for INS-IGF2 Gene

  • This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]

GeneCards Summary for INS-IGF2 Gene

INS-IGF2 (INS-IGF2 Readthrough) is a Protein Coding gene. Diseases associated with INS-IGF2 include Diabetes Mellitus, Insulin-Dependent, 2. Among its related pathways are AMP-activated Protein Kinase (AMPK) Signaling and Type II diabetes mellitus. GO annotations related to this gene include hormone activity. An important paralog of this gene is INS.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INS-IGF2 Gene

Genomics for INS-IGF2 Gene

Regulatory Elements for INS-IGF2 Gene

Enhancers for INS-IGF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G002186 1.3 Ensembl ENCODE dbSUPER 11.6 -25.6 -25616 0.8 CTCF ZNF473 ZSCAN4 MAX GLI4 CDC5L THRB ZIC2 RAD21 ZNF776 INS-IGF2 INS IGF2 ENSG00000199550 CD81 TH MIR4686 GC11M002206
GH11G002026 0.5 ENCODE 11.4 +131.6 131599 6.4 SCRT2 TRIM22 ZNF16 PRDM4 HNRNPL ENSG00000240801 MIR483 TH IGF2-AS IGF2 INS INS-IGF2 KRTAP5-5 GC11M002042 GC11P002011
GH11G002156 1 ENCODE dbSUPER 0.7 +4.6 4584 0.2 GATAD2A CTCF ZNF654 RB1 MAX REST ZIC2 RAD21 YY1 RFX5 INS-IGF2 IGF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INS-IGF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for INS-IGF2 Gene

Chromosome:
11
Start:
2,129,112 bp from pter
End:
2,161,209 bp from pter
Size:
32,098 bases
Orientation:
Minus strand

Genomic View for INS-IGF2 Gene

Genes around INS-IGF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INS-IGF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INS-IGF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INS-IGF2 Gene

Proteins for INS-IGF2 Gene

  • Protein details for INS-IGF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    F8WCM5-INSR2_HUMAN
    Recommended name:
    Insulin, isoform 2
    Protein Accession:
    F8WCM5
    Secondary Accessions:
    • Q1WM24

    Protein attributes for INS-IGF2 Gene

    Size:
    200 amino acids
    Molecular mass:
    21537 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for INS-IGF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INS-IGF2 Gene

Post-translational modifications for INS-IGF2 Gene

No Post-translational modifications

Other Protein References for INS-IGF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for INS-IGF2 Gene

Domains & Families for INS-IGF2 Gene

Protein Domains for INS-IGF2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with INS-IGF2: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for INS-IGF2 Gene

Function for INS-IGF2 Gene

Gene Ontology (GO) - Molecular Function for INS-IGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with INS-IGF2: view

Phenotypes for INS-IGF2 Gene

genes like me logo Genes that share phenotypes with INS-IGF2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for INS-IGF2 Gene

Localization for INS-IGF2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INS-IGF2 gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for INS-IGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with INS-IGF2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for INS-IGF2 Gene

Pathways & Interactions for INS-IGF2 Gene

genes like me logo Genes that share pathways with INS-IGF2: view

Pathways by source for INS-IGF2 Gene

Interacting Proteins for INS-IGF2 Gene

Gene Ontology (GO) - Biological Process for INS-IGF2 Gene

None

No data available for SIGNOR curated interactions for INS-IGF2 Gene

Drugs & Compounds for INS-IGF2 Gene

No Compound Related Data Available

Transcripts for INS-IGF2 Gene

mRNA/cDNA for INS-IGF2 Gene

(1) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for INS-IGF2 Gene

No ASD Table

Relevant External Links for INS-IGF2 Gene

GeneLoc Exon Structure for
INS-IGF2
ECgene alternative splicing isoforms for
INS-IGF2

Expression for INS-IGF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INS-IGF2 Gene

mRNA differential expression in normal tissues according to GTEx for INS-IGF2 Gene

This gene is overexpressed in Liver (x45.9).

mRNA Expression by UniProt/SwissProt for INS-IGF2 Gene:

F8WCM5-INSR2_HUMAN
Tissue specificity: Expressed in pancreas, eye and, to a lower extent, in limb.

Evidence on tissue expression from TISSUES for INS-IGF2 Gene

  • Pancreas(2.9)
genes like me logo Genes that share expression patterns with INS-IGF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for INS-IGF2 Gene

Orthologs for INS-IGF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for INS-IGF2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia INS 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves INS 35
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 44 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ins 35
  • 33 (a)
ManyToMany
insb 35
  • 23 (a)
ManyToMany
Species where no ortholog for INS-IGF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INS-IGF2 Gene

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

Paralogs for INS-IGF2 Gene

Paralogs for INS-IGF2 Gene

(1) SIMAP similar genes for INS-IGF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with INS-IGF2: view

Variants for INS-IGF2 Gene

Sequence variations from dbSNP and Humsavar for INS-IGF2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121908260 Pathogenic 2,160,835(-) GGAAC(A/G)AGGCT nc-transcript-variant, reference, missense
rs121908261 Pathogenic 2,160,809(-) AGACC(C/T)GCCGG nc-transcript-variant, reference, missense
rs121908278 Pathogenic 2,160,956(-) GGATG(C/G/T)GCCTC nc-transcript-variant, reference, missense
rs121918101 Pathogenic 2,160,872(-) GCTCA(C/G)ACCTG nc-transcript-variant, reference, missense
rs121918102 Pathogenic 2,159,911(-) GCATT(G/T)TGGAA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for INS-IGF2 Gene

Variant ID Type Subtype PubMed ID
dgv1566n54 CNV loss 21841781
dgv1567n54 CNV loss 21841781
dgv551e59 CNV duplication 20981092
esv2673506 CNV deletion 23128226
nsv1070426 CNV deletion 25765185
nsv1118203 CNV deletion 24896259
nsv467645 CNV gain 19166990
nsv553047 CNV gain 21841781
nsv553068 CNV loss 21841781
nsv553069 CNV loss 21841781
nsv553070 CNV loss 21841781
nsv553071 CNV gain 21841781
nsv553076 CNV loss 21841781
nsv553077 CNV loss 21841781
nsv553078 CNV loss 21841781
nsv825707 CNV gain 20364138
nsv951284 CNV deletion 24416366

Variation tolerance for INS-IGF2 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.00; 68.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INS-IGF2 Gene

Human Gene Mutation Database (HGMD)
INS-IGF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INS-IGF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INS-IGF2 Gene

Disorders for INS-IGF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for INS-IGF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 2
  • type 1 diabetes mellitus 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for INS-IGF2

Genetic Association Database (GAD)
INS-IGF2
Human Genome Epidemiology (HuGE) Navigator
INS-IGF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INS-IGF2
genes like me logo Genes that share disorders with INS-IGF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INS-IGF2 Gene

Publications for INS-IGF2 Gene

  1. Imprinting of IGF2 P0 transcript and novel alternatively spliced INS- IGF2 isoforms show differences between mouse and human. (PMID: 16531418) Monk D. … Moore G.E. (Hum. Mol. Genet. 2006) 2 3 4 64
  2. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PMID: 21829393) Plagnol V. … Todd J.A. (PLoS Genet. 2011) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (PMID: 17554260) Todd J.A. … Clayton D.G. (Nat. Genet. 2007) 3 46 64
  5. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. (PMID: 17632545) Hakonarson H. … Polychronakos C. (Nature 2007) 3 46 64

Products for INS-IGF2 Gene

Sources for INS-IGF2 Gene

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