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LSM11

Chr 5q33.3

LSM11, U7 small nuclear RNA associated

Aliases:
FLJ38273
MANE:
ENST00000286307.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • Aicardi-Goutieres syndrome 8

    0.50
  • Aicardi-Goutieres syndrome

    0.37
  • Aicardi-Goutières syndrome

    0.37
  • dysthymic disorder

    0.05
  • major depressive disorder

    0.05
  • hepatocellular carcinoma

    0.04
  • hypertensive disorder

    0.03
  • Alzheimer disease

    0.03
  • Increased blood pressure

    0.02

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

Protein function (UniProt)

U7 snRNA-associated Sm-like protein LSm11

Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (PubMed:11574479, PubMed:16914750, PubMed:33230297). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed (PubMed:11574479, PubMed:16914750). Required for cell cycle progression from G1 to S phases (By similarity). Binds specifically to the Sm-binding site of U7 snRNA (PubMed:11574479, PubMed:16914750)

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.