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Gene Gene information from NCBI Gene database.
Entrez ID 54960
Gene name Gem nuclear organelle associated protein 8
Gene symbol GEMIN8
Synonyms (NCBI Gene)
FAM51A1
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
miRNA miRNA information provided by mirtarbase database.
444 Show/Hide all (444)
miRTarBase ID miRNA Experiments Reference
MIRT005468 kshv-miR-K12-4-3p ImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR 20413099
MIRT688142 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT688141 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT688140 hsa-miR-17-5p HITS-CLIP 23313552
MIRT688139 hsa-miR-20a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly EXP 12067652
GO:0000387 Process Spliceosomal snRNP assembly IBA
GO:0000387 Process Spliceosomal snRNP assembly IDA 16434402, 18984161
GO:0000387 Process Spliceosomal snRNP assembly IEA
GO:0005515 Function Protein binding IPI 17023415, 17178713, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300962 26044 ENSG00000046647
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF15348 GEMIN8 14 → 242 Gemini of Cajal bodies-associated protein 8 Family
Sequence
Sequence length 242
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
snRNP Assembly
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 30786668 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Muscular Atrophy Spinal Spinal muscular atrophy Pubtator 19430205 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Spinal Muscular Atrophy Spinal Muscular Atrophy BEFREE 22454514
★★★★★
★☆☆☆☆
Found in Text Mining only