GEMIN5
Gem Nuclear Organelle Associated Protein 5
Gene Information Card
| Symbol | GEMIN5 |
|---|---|
| Full Name | Gem nuclear organelle associated protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.2 |
| NCBI Gene ID | 25929 ncbi.nlm.nih.gov/gene/25929 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q8TEQ6 |
| OMIM ID | 607005 |
| HGNC ID | 20076 |
| Aliases | GEMIN5, gemin5, GEMIN-5 |
Description
GEMIN5 encodes a component of the survival of motor neuron (SMN) complex, which is essential for the assembly of small nuclear ribonucleoproteins (snRNPs) and pre-mRNA splicing. The protein contains multiple WD40 repeats and a Tudor domain, and it functions in RNA metabolism and transport. Mutations in GEMIN5 are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with motor and speech delay | Loss-of-function mutations impair SMN complex assembly, leading to defective snRNP biogenesis and splicing abnormalities | ClinVar, OMIM |
| Spinal muscular atrophy (modifier) | Altered GEMIN5 expression may modify SMN complex activity and disease severity | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| SH-SY5Y | 14.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, predicted to cause nonsense-mediated decay |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to reduced GEMIN5 protein levels and impaired SMN complex function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • snRNP assembly |
| • SMN complex | • cytoplasm |
| • nucleus | • WD40 repeat domain binding |
Pathways
• SMN complex assembly
• mRNA splicing
• RNA metabolism
Protein Summary
GEMIN5 is a 1508-amino-acid protein with multiple WD40 repeats and a Tudor domain. It is a core component of the SMN complex, which mediates the assembly of spliceosomal snRNPs. The protein localizes to both the cytoplasm and nucleus and is involved in RNA transport and splicing regulation.
Related Services
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|---|---|---|---|---|
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