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Syne2 Gene Detail
Summary
  • Symbol
    Syne2
  • Name
    spectrin repeat containing, nuclear envelope 2
  • Synonyms
    6820443O06Rik, Cpfl8, D12Ertd777e, dice, diminished cone electroretinogram, mKIAA1011, Nesp2g, nesprin-2, syne-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2449316
    NCBI Gene: 319565
  • Gene Overview
    MyGene.info: SYNE2
Location & Maps
more
  • Sequence Map
    Chr12:75818134-76110926 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      292793 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 33.11 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SYNE2, spectrin repeat containing nuclear envelope protein 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SYNE2, spectrin repeat containing nuclear envelope protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDMD5, Nesp2, Nesprin-2, NUA, NUANCE, SYNE-2, TROPH
  • Links
    NCBI Gene ID: 23224
    neXtProt AC: NX_Q8WXH0

  • Chr Location
    14q23.2; chr14:63852586-64226449 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 56700
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SYNE2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SYNE2 associations

Human Disease Mouse Models
       Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant; EDMD5   OMIM: 612999
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 4 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Spontaneous
    1
  • Targeted
    4
  • Transgenic
    1
  • Genomic Mutations
    1 involving Syne2
  • Incidental Mutations
Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for a spontaneous mutation exhibit early retinal defects in photoreceptors, secondary Neurons, and muller glia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033019 VEGA Gene Model | MGI Sequence Detail 292793 C57BL/6J ±  kb
transcript OTTMUST00000082377 VEGA | MGI Sequence Detail 21704 Not Applicable  
polypeptide OTTMUSP00000044144 VEGA | MGI Sequence Detail 6870 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3091 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 155
    cDNA 153
    Primer pair 2

    Microarray probesets 8
Other
Accession IDs
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MGI:1289287, MGI:2145039, MGI:2442286, MGI:3606160
References
more
  • Summaries
    All 50
    Developmental Gene Expression 5
    Gene Ontology 10
    Phenotypes 10
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:231236 D'Alessandro M, et al., Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton. Dev Cell. 2015 Oct 26;35(2):186-98

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory