LSM8 (LSM8 homolog, U6 small nuclear RNA associated)

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Gene Gene information from NCBI Gene database.
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Entrez ID 51691
Gene name LSM8 homolog, U6 small nuclear RNA associated
Gene symbol LSM8
Synonyms (NCBI Gene)
NAA38
Chromosome 7
Chromosome location 7q31.31
Summary This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring whi
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT650261 hsa-miR-8063 HITS-CLIP 23824327
MIRT664992 hsa-miR-138-2-3p HITS-CLIP 23824327
MIRT650262 hsa-miR-129-5p HITS-CLIP 23824327
MIRT650261 hsa-miR-8063 HITS-CLIP 23824327
MIRT650262 hsa-miR-129-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome NAS 30975767
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
607288 20471 ENSG00000128534
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.
O95777
Protein name U6 snRNA-associated Sm-like protein LSm8
Protein function Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex
PDB 3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 7ABG , 8H6E , 8H6J , 8H6K , 8H6L , 8QO9 , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM 3 → 72 LSM domain Domain
Sequence
Sequence length 96
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
RNA degradation mRNA Splicing - Major Pathway
Spliceosome  
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)
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.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 36137488, 36738649
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 33686288
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 38538606
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 38538606
★★★★★
★★☆☆☆
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
Thyroiditis Thyroiditis Pubtator 30926877 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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CTTNBP2 3 shared diseasesCannabis abuse, Glaucoma, Post-traumatic stress disorder 3 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Glaucoma), GWAS catalog (Post-traumatic stress disorder) Related via 3 shared diseases including Cannabis abuse, Glaucoma — evidence mostly GWAS catalog. ZNF184 2 shared diseasesCannabis abuse, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Cannabis abuse, Post-traumatic stress disorder — evidence mostly GWAS catalog. HMGN4 2 shared diseasesCannabis abuse, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Cannabis abuse, Post-traumatic stress disorder — evidence mostly GWAS catalog. LINGO1 2 shared diseasesGlaucoma, Post-traumatic stress disorder 1 shared evidence sourceGWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Glaucoma, Post-traumatic stress disorder — evidence mostly GWAS catalog. ABT1 2 shared diseasesCannabis abuse, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Cannabis abuse, Post-traumatic stress disorder — evidence mostly GWAS catalog.
Alzheimer disease Linked via 5 of 5 related genesCTTNBP2, ZNF184, HMGN4, LINGO1, ABT1 Substance abuse Linked via 3 of 5 related genesCTTNBP2, ZNF184, LINGO1 Lung cancer Linked via 3 of 5 related genesZNF184, HMGN4, ABT1 Psoriasis Linked via 3 of 5 related genesZNF184, HMGN4, ABT1 Upper aerodigestive tract neoplasm Linked via 3 of 5 related genesZNF184, HMGN4, ABT1