GEMIN4
Chr 17gem nuclear organelle associated protein 4
Also known as: HC56, HCAP1, HHRF-1, NEDMCR, p97
The GEMIN4 protein is part of the SMN complex that catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), which are essential building blocks of the spliceosome required for pre-mRNA splicing. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities. The gene is extremely intolerant to loss-of-function variants (pLI near 1), indicating that heterozygous loss alone would be detrimental, consistent with the recessive inheritance pattern where complete loss of function requires variants in both alleles.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
416 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 | 1 | 54 | 0 | 55 |
Likely Pathogenic | 1 | 1 | 6 | 0 | 8 |
VUS | 10 | 206 | 51 | 0 | 267 |
Likely Benign | 0 | 21 | 2 | 32 | 55 |
Benign | 0 | 15 | 1 | 7 | 23 |
Conflicting | — | 6 | |||
| Total | 11 | 244 | 114 | 39 | 414 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GEMIN4 · 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