transmembrane protein 43

Summary
Gene Symbol
  • TMEM43
Organism
Homo sapiens (human)
NCBI Gene
79188
PubChem
79188
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Cardiomyopathy
  • Cell membrane
  • Disease variant
  • Emery-Dreifuss muscular dystrophy
  • Endoplasmic reticulum
  • Innate immunity
  • Neuropathy
  • Non-syndromic deafness
  • Nucleus
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9BTV4
  • Protein LUMA
A0A024R2F9
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
transmembrane protein
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
lipid metabolic process
nuclear membrane organization
Displaying 1 entry
InterPro
Transmembrane protein 43 family
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7
DOID:0110074 arrhythmogenic right ventricular dysplasia 5
DOID:0112373 autosomal dominant auditory neuropathy 3

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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