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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)