Gene Gene information from NCBI Gene database.
Entrez ID 57819
Gene name LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated
Gene symbol LSM2
Synonyms (NCBI Gene)
C6orf28G7BYBL026WsnRNP
Chromosome 6
Chromosome location 6p21.33
Summary This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3`-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pse
miRNA miRNA information provided by mirtarbase database.
42
miRTarBase ID miRNA Experiments Reference
MIRT036749 hsa-miR-760 CLASH 23622248
MIRT1121782 hsa-miR-3127-3p CLIP-seq
MIRT1121783 hsa-miR-3144-5p CLIP-seq
MIRT1121784 hsa-miR-3191 CLIP-seq
MIRT1121785 hsa-miR-3199 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IDA 10523320
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome NAS 30975767
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607282 13940 ENSG00000204392
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y333
Protein name U6 snRNA-associated Sm-like protein LSm2 (Protein G7b) (Small nuclear ribonuclear protein D homolog) (snRNP core Sm-like protein Sm-x5)
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 5 72 LSM domain Domain
Sequence
Sequence length 95
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation
Spliceosome
  mRNA decay by 5' to 3' exoribonuclease
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
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 Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 24773620 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 25625564, 25735748
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30912329
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 12440236, 20500824, 21233219
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 6203115 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Disorder BEFREE 21233219
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29938207
★☆☆☆☆
Found in Text Mining only
Connective Tissue Diseases Connective Tissue Disease BEFREE 12218166
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 11197177
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 24773620 Associate
★☆☆☆☆
Found in Text Mining only