Skip to content
GenoLensGenoLens

LSM7

Chr 19p13.3

LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated

Aliases:
YNL147W
MANE:
ENST00000252622.15

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • leukodystrophy

    0.40
  • LSM7-related leukodystrophy and cerebellar atrophy

    0.33
  • Joubert syndrome 36

    0.27
  • hepatocellular carcinoma

    0.07
  • neoplasm

    0.05
  • breast cancer

    0.04
  • breast carcinoma

    0.02
  • Cerebellar atrophy

    0.02
  • cancer

    0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

U6 snRNA-associated Sm-like protein LSm7

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, PubMed:35047835). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.