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INS-IGF2 INS-IGF2 readthrough [ Homo sapiens (human) ]

Gene ID: 723961, updated on 25-Nov-2021

Summary

Official Symbol
INS-IGF2provided by HGNC
Official Full Name
INS-IGF2 readthroughprovided by HGNC
Primary source
HGNC:HGNC:33527
See related
Ensembl:ENSG00000129965 Ensembl:ENSG00000284779
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
INSIGF
Summary
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]
Expression
Biased expression in placenta (RPKM 1227.5) and liver (RPKM 104.8) See more
Orthologs
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Genomic context

See INS-IGF2 in Genome Data Viewer
Location:
11p15.5
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2129117..2161209, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150347..2182439, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene microRNA 483 Neighboring gene insulin like growth factor 2 Neighboring gene IGF2 antisense RNA Neighboring gene insulin repeat instability region Neighboring gene microRNA 4686 Neighboring gene insulin Neighboring gene tyrosine hydroxylase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
GeneReviews: Not available
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
GeneReviews: Not available
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough INS-IGF2

Included genes: IGF2, INS

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hormone activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
insulin, isoform 2
Names
INS-IGF2 readthrough transcript protein
insulin
insulin- insulin-like growth factor 2 read-through product

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050578.1 RefSeqGene

    Range
    5001..19587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042376.3NP_001035835.1  insulin, isoform 2 precursor

    See identical proteins and their annotated locations for NP_001035835.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as INSIGF short) represents the shorter transcript and is protein-coding.
    Source sequence(s)
    AC132217, BQ128162, DQ104204
    Consensus CDS
    CCDS41598.1
    UniProtKB/Swiss-Prot
    F8WCM5
    Related
    ENSP00000380440.1, ENST00000397270.1
    Conserved Domains (1) summary
    cd04367
    Location:2662
    IlGF_insulin_like; IlGF_like family, insulin_like subgroup, specific to vertebrates. Members include a number of peptides including insulin and insulin-like growth factors I and II, which play a variety of roles in controlling processes such as metabolism, growth and ...

RNA

  1. NR_003512.4 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as INSIGF long) lacks one exon and includes three additional 3' exons, compared to variant 2. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AC132217, DQ104205
    Related
    ENST00000643349.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2129117..2161209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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