IGF2BP1

Chr 17

insulin like growth factor 2 mRNA binding protein 1

Also known as: CRD-BP, CRDBP, IMP-1, IMP1, VICKZ1, ZBP1

NCBI Gene: 10642ENSG00000159217UniProt: Q9NZI8OMIM: 608288

This protein binds to specific mRNAs and regulates their transport, stability, and translation, playing critical roles in neuronal development, neurite outgrowth, and synaptic function through spatiotemporal control of protein synthesis. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, autism spectrum disorder, and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants, indicating that even single functional copies may be insufficient for normal development.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.23
Clinical Summary— IGF2BP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 48 VUS of 74 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.23LOEUF
pLI 0.999
Z-score 4.95
OE 0.09 (0.04–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.52Z-score
OE missense 0.47 (0.41–0.54)
165 obs / 350.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.09 (0.04–0.23)
0≤0.351.4
Missense OE0.47 (0.41–0.54)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 3 / 34.3Missense obs/exp: 165 / 350.2Syn Z: 0.73
DN
0.4090th %ile
GOF
0.4579th %ile
LOF
0.76top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.23

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

74 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS48
Likely Benign2
Benign4
10
Pathogenic
1
Likely Pathogenic
48
VUS
2
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
44
4
0
48
Likely Benign
0
0
1
1
2
Benign
0
1
2
1
4
Total04518265

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

View in ClinVar →

Protein Context — Lollipop Plot

IGF2BP1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
IGF2BP1 induces neuroblastoma via a druggable feedforward loop with MYCN promoting 17q oncogene expression
Hagemann S et al.·Mol Cancer
2023
BTYNB, an inhibitor of RNA binding protein IGF2BP1 reduces proliferation and induces differentiation of leukemic cancer cells
Jamal A et al.·Saudi J Biol Sci
2023
Inhibition of IGF2BP1 attenuates renal injury and inflammation by alleviating m6A modifications and E2F1/MIF pathway
Mao Y et al.·Int J Biol Sci
2023
RNA binding protein IGF2BP1 meditates oxidative stress-induced granulosa cell dysfunction by regulating MDM2 mRNA stability in an m6A-dependent manner
Mu H et al.·Redox Biol
2022
Insulin-Like Growth Factor 2 mRNA-Binding Protein 1 (IGF2BP1) Is a Prognostic Biomarker and Associated with Chemotherapy Responsiveness in Colorectal Cancer
Chen HM et al.·Int J Mol Sci
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients