IGF2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IGF2 (HGNC:5466) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
insulin like growth factor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C11orf43
Alias symbols
FLJ44734, IGF-II
%HI
79.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.96(Read more about gnomAD pLI score)
LOEUF
0.5(Read more about gnomAD LOEUF score)
Cytoband
11p15.5
Genomic Coordinates
GRCh37/hg19: chr11:2150342-2170833 NCBI Ensembl UCSC
GRCh38/hg38: chr11:2129117-2149566 NCBI Ensembl UCSC
MANE Select Transcript
NM_000612.6 ENST00000416167.7 (Read more about MANE Select)
Function
The insulin-like growth factors possess growth-promoting activity (By similarity). Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue differentiation. In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464). Positively regulates myogenic transcription factor M... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34104
ClinGen Curation ID:
CCID:007316
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
http://www.ncbi.nlm.nih.gov/books/NBK1324

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
http://www.ncbi.nlm.nih.gov/books/NBK1394 While paternally derived duplications of 11p15.5 result in Beckwith-Wiedemann syndrome, no specific duplications of only IGF2 have been reported. It might be expected that a duplication of the IGF2 gene on the paternal allele may lead to overgrowth or BWS..

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)