spectrin repeat containing nuclear envelope protein 2

Summary
Gene Symbol
  • SYNE2
Organism
Homo sapiens (human)
NCBI Gene
23224
PubChem
23224
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Actin-binding
  • Alternative splicing
  • Cell junction
  • Cell membrane
  • Coiled coil
  • Cytoskeleton
  • Disease variant
  • Disulfide bond
  • Emery-Dreifuss muscular dystrophy
  • Mitochondrion
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Sarcoplasmic reticulum
  • Transmembrane helix
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
Q8WXH0
  • KASH domain-containing protein 2
  • Nuclear envelope spectrin repeat protein 2
  • Nucleus and actin connecting element protein
  • Synaptic nuclear envelope protein 2
Q6MZP0
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Alpha-actinin
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
Displaying all 2 entries
InterPro
CH domain superfamily
Calponin homology domain
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5
DOID:11383 cryptorchidism
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