CRIM1
Chr 2cysteine rich transmembrane BMP regulator 1
Also known as: CRIM-1, S52
This protein is a transmembrane receptor containing cysteine-rich domains that modulates bone morphogenetic protein (BMP) signaling and plays a role in CNS development, motor neuron survival, and angiogenesis. Mutations cause autosomal recessive disorders including arthrogryposis, renal dysfunction, and cholestasis syndrome, as well as autosomal dominant microcephaly, seizures, and developmental delay. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.24), indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
271 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 1 | 153 | 3 | 0 | 157 |
Likely Benign | 0 | 11 | 4 | 7 | 22 |
Benign | 0 | 4 | 3 | 9 | 16 |
Conflicting | — | 1 | |||
| Total | 1 | 168 | 29 | 16 | 215 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRIM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools