GEMIN8 (gem nuclear organelle associated protein 8)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54960 |
| Gene name | Gem nuclear organelle associated protein 8 |
| Gene symbol | GEMIN8 |
| Synonyms (NCBI Gene) |
FAM51A1
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| Chromosome | X |
| Chromosome location | Xp22.2 |
| Summary | The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating thei |
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miRNA
miRNA information provided by mirtarbase database.
444
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NWZ8 | ||||||||||
| Protein name | Gem-associated protein 8 (Gemin-8) (Protein FAM51A1) | ||||||||||
| Protein function | The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set | ||||||||||
| PDB | 7BBL | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 242 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with GEMIN8 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to GEMIN8 (see Related Genes above), that are NOT already directly curated for GEMIN8 itself -- a lead worth checking, not a confirmed association.
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