LEM domain nuclear envelope protein 2

Summary
Gene Symbol
  • LEMD2
Organism
Homo sapiens (human)
NCBI Gene
221496
PubChem
221496
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Cataract
  • Cytoskeleton
  • Disease variant
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8NC56
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
OrthoDB (Group)
Group level
Eukaryota
Group Name
Uncharacterized protein
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0050700 cardiomyopathy
DOID:0110243 cataract 46 juvenile-onset
DOID:11726 Emery-Dreifuss muscular dystrophy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024