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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GEMIN5
gem nuclear organelle associated protein 5
Chromosome 5 Β· 5q33.2
NCBI Gene: 25929Ensembl: ENSG00000082516.9HGNC: HGNC:20043UniProt: B7ZLC9
155PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SMN-Sm protein complexSMN-Gemin2 complexmRNA 3'-UTR bindingprotein bindingneurodevelopmental disorder with cerebellar atrophy and motor dysfunctiongenetic disorderneurodegenerative diseasealcohol drinking
✦AI Summary

GEMIN5 is an RNA-binding protein essential for spliceosomal snRNP assembly and translation regulation. Within the SMN complex, GEMIN5 recognizes and delivers small nuclear RNAs (snRNAs) to facilitate core snRNP formation, the building blocks of spliceosomes required for pre-mRNA splicing 1. GEMIN5 recognizes snRNAs through its N-terminal WD repeat domains and binds the 7-methylguanosine cap of RNA molecules 2. Beyond snRNP biogenesis, GEMIN5 regulates translation through multiple mechanisms: it binds the 3'-UTR of SMN1 mRNA to regulate its translation 2, modulates polysome partitioning via ribosome interaction 2, and acts as an m6A-dependent translator of select mRNAs like FZR1 3. Biallelic GEMIN5 mutations cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, and cerebellar ataxia through disrupted snRNP assembly and altered mRNA splicing patterns 1. GEMIN5 dysfunction also impairs mitochondrial function via CoQ10 biosynthesis deficiency, a defect potentially addressable through CoQ10 supplementation 4. SMN acts as a genetic modifier of GEMIN5-related neurodegeneration by regulating GEMIN5 expression via Tudor domain interaction 5.

Sources cited
1
GEMIN5 is essential for snRNP assembly; loss-of-function mutations cause neurodevelopmental disorder with developmental delay, hypotonia, and cerebellar ataxia
PMID: 33963192
2
GEMIN5 structure: N-terminal snRNA recognition, central dimerization domain, C-terminal non-canonical RNA-binding site; regulates polysome partitioning and SMN1 translation
PMID: 40176294
3
GEMIN5 binds m6A-modified FZR1 mRNA and recruits eIF3 translation initiation complex
PMID: 37326469
4
GEMIN5 mutations associated with CoQ10 biosynthesis deficiency and mitochondrial dysfunction; CoQ10 supplementation improves function
PMID: 38316953
5
SMN regulates GEMIN5 expression via C-terminal binding and Tudor domain; SMN upregulation ameliorates GEMIN5-mediated snRNP biogenesis defects
PMID: 37369805
Disease Associationsβ“˜21
neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionOpen Targets
0.82Strong
genetic disorderOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.37Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
enteritisOpen Targets
0.34Weak
Hodgkins lymphomaOpen Targets
0.28Weak
essential tremorOpen Targets
0.11Weak
ThrombocytopeniaOpen Targets
0.08Suggestive
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.07Suggestive
thrombocytopenia 4Open Targets
0.07Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.07Suggestive
platelet-type bleeding disorder 15Open Targets
0.05Suggestive
platelet-type bleeding disorder 10Open Targets
0.05Suggestive
thrombocytopenia 2Open Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.04Suggestive
dementiaOpen Targets
0.04Suggestive
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionUniProt
Pathogenic Variants32
NM_015465.5(GEMIN5):c.2962A>T (p.Ile988Phe)Likely pathogenic
GEMIN5-related neurodevelopmental disorder|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction|Inborn genetic diseases|GEMIN5-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 988
NM_015465.5(GEMIN5):c.4100T>C (p.Leu1367Pro)Likely pathogenic
GEMIN5-related disorder|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜…β˜†β˜†2025β†’ Residue 1367
NM_015465.5(GEMIN5):c.778C>T (p.Arg260Ter)Likely pathogenic
not provided|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜…β˜†β˜†2024β†’ Residue 260
NM_015465.5(GEMIN5):c.1200_1201del (p.Asp401fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 401
NM_015465.5(GEMIN5):c.2224A>T (p.Lys742Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 742
NM_015465.5(GEMIN5):c.414G>A (p.Trp138Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 138
NM_015465.5(GEMIN5):c.3085T>C (p.Trp1029Arg)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2025β†’ Residue 1029
NM_015465.5(GEMIN5):c.2035C>T (p.Arg679Ter)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2025β†’ Residue 679
NM_015465.5(GEMIN5):c.1995+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_015465.5(GEMIN5):c.1081-2A>GLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2024
NM_015465.5(GEMIN5):c.4263-1G>CLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2024
NM_015465.5(GEMIN5):c.1856del (p.Glu619fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 619
NM_015465.5(GEMIN5):c.167-3_167-2delLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2023
NM_015465.5(GEMIN5):c.1045A>T (p.Lys349Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 349
NM_015465.5(GEMIN5):c.3153_3160dup (p.Asp1054fs)Likely pathogenic
GEMIN5-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1054
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 1311
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 1144
NM_015465.5(GEMIN5):c.119del (p.Arg40fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 40
NM_015465.5(GEMIN5):c.819AGG[1] (p.Gly276del)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 276
NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β˜…β˜†β˜†β˜†2022β†’ Residue 423
View on ClinVar β†—
Related Genes
SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%SNRNP70Protein interaction100%SNRPBProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
79%
Brain
68%
Lung
60%
Liver
51%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
GEMIN5SNRPGSNRPD1SNRPD2SNRPFSNRNP70SNRPB
PROTEIN STRUCTURE
Preparing viewer…
PDB5TEE Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.58–0.84]
RankingsWhere GEMIN5 stands among ~20K protein-coding genes
  • #2,915of 20,598
    Most Researched155 Β· top quartile
  • #1,749of 5,498
    Most Pathogenic Variants32
  • #7,210of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedGEMIN5
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
PMID: 33963192
Nat Commun Β· 2021
1.00
2
Understanding GEMIN5 Interactions: From Structural and Functional Insights to Selective Translation.
PMID: 40176294
Wiley Interdiscip Rev RNA Β· 2025
0.90
3
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
PMID: 37369805
Acta Neuropathol Β· 2023
0.80
4
N 6-methyladenosine Modification of FZR1 mRNA Promotes Gemcitabine Resistance in Pancreatic Cancer.
PMID: 37326469
Cancer Res Β· 2023
0.70
5
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
PMID: 35393353
Life Sci Alliance Β· 2022
0.64