IGF2BP2

Chr 3AD

insulin like growth factor 2 mRNA binding protein 2

Also known as: IMP-2, IMP2, VICKZ2

This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…
ADLOEUF 0.431 OMIM phenotype
Clinical SummaryIGF2BP2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
56 VUS of 64 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.239
Z-score 4.10
OE 0.24 (0.140.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.91Z-score
OE missense 0.57 (0.500.64)
200 obs / 353.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.24 (0.140.43)
00.351.4
Missense OE?0.57 (0.500.64)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 8 / 33.7Missense obs/exp: 200 / 353.9Syn Z: 0.41

ClinVar Variant Classifications

64 submitted variants in ClinVar

Classification Summary

VUS56
Likely Benign2
56
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
56
0
0
56
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total0570158

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

45 pathogenic / likely-pathogenic (of 51) ClinVar copy-number / structural variants overlap IGF2BP2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

IGF2BP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →