GEMIN5

Chr 5

gem nuclear organelle associated protein 5

Also known as: GEMIN-5, NEDCAM

NCBI Gene: 25929ENSG00000082516UniProt: Q8TEQ6

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Clinical highlights

Gene-disease validity (ClinGen)
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 3.43
OE 0.59 (0.46–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.07Z-score
OE missense 0.99 (0.94–1.05)
781 obs / 786.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.46–0.75)
0≤0.351.4
Missense OE?0.99 (0.94–1.05)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 47 / 80.1Missense obs/exp: 781 / 786.3Syn Z: -0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GEMIN5 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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