Syne2 spectrin repeat containing, nuclear envelope 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Syne2provided by MGI
Official Full Name: spectrin repeat containing, nuclear envelope 2provided by MGI
Primary source: MGI:MGI:2449316
See related: Ensembl:ENSMUSG00000063450 AllianceGenome:MGI:2449316
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NUA; dice; Cpfl8; KASH2; Nesp2g; mKIAA1011; D12Ertd777e; 6820443O06Rik
Summary: Enables actin binding activity. Involved in several processes, including centrosome localization; nuclear migration; and regulation of cilium assembly. Located in Z disc and nuclear membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in ovary adult (RPKM 15.6), genital fat pad adult (RPKM 6.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 33.11 cM

Exon count:: 116

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (75865092..76157702)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (75818318..76110928)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere.
Title: Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere.
Nesprins are mechanotransducers that discriminate epithelial-mesenchymal transition programs.
Title: Nesprins are mechanotransducers that discriminate epithelial-mesenchymal transition programs.
Study found the lack of an overt retinal phenotype in Syne-2/Nesprin-2 KO mice suggests the usage of alternative translational start sites, producing Syne-2 splice variants with an intact Pcnt interaction site.
Title: Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model.
Nesprin-2G knockout fibroblasts exhibit reduced migration, changes in focal adhesion composition, and reduced ability to generate traction forces.
Title: Nesprin-2G knockout fibroblasts exhibit reduced migration, changes in focal adhesion composition, and reduced ability to generate traction forces.
CRISPR/Cas9-mediated knockout of Syne-2 in cell culture led to an overexpression and mislocalization of Pcnt and to ciliogenesis defects. This suggests that the Pcnt-Syne-2 complex is important for ciliogenesis and outer segment formation during retinal development and plays a role in nuclear migration.
Title: Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
The Nesprin-2 gene function is crucial during embryonic growth, differentiation and organogenesis.
Title: Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.
nesprin-2G is subject to mechanical tension in adherent fibroblasts
Title: Nesprin-2G, a Component of the Nuclear LINC Complex, Is Subject to Myosin-Dependent Tension.
SYNE2 is important for normal retinal development. We have determined that not only is photoreceptor nuclear migration affected, but also the positions of Muller glia and secondary neurons are disturbed early in retinal development
Title: A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.
nesprin-dependent recruitment of kinesin-1 to the nuclear envelope through the interaction of a conserved LEWD motif with kinesin light chain might be a general mechanism for cell-type-specific nuclear positioning during development.
Title: Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.
Loss of Nesprin 1 or 2, or both, led to impairment of gene expression changes in response to biomechanical stimuli. These data suggest a model whereby biomechanical signals are communicated from proteins of the outer nuclear membrane
Title: Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (3) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Mit192 (e-PCR), detects polymorphism
- UniSTS:126746

BI301410 (e-PCR)
- UniSTS:246837

fk95g07.x1 (e-PCR)
- UniSTS:201785

D12Mit252 (e-PCR), detects polymorphism
- UniSTS:126809

Syne2 (e-PCR), detects polymorphism
- UniSTS:507256

D12Mit3 (e-PCR), detects polymorphism
- UniSTS:126852

AW546258 (e-PCR)
- UniSTS:180408

D12Ertd777e (e-PCR), detects polymorphism
- UniSTS:167101

D12Mit128 (e-PCR), detects polymorphism
- UniSTS:126682

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeleton-nuclear membrane anchor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in centrosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centrosome localization	ISO Inferred from Sequence Orthology more info
involved_in nuclear migration	ISO Inferred from Sequence Orthology more info
involved_in nuclear migration along microfilament	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in filopodium membrane	IEA Inferred from Electronic Annotation more info
located_in filopodium membrane	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in lamellipodium membrane	IEA Inferred from Electronic Annotation more info
located_in lamellipodium membrane	ISO Inferred from Sequence Orthology more info
part_of meiotic nuclear membrane microtubule tethering complex	IEA Inferred from Electronic Annotation more info
part_of meiotic nuclear membrane microtubule tethering complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	TAS Traceable Author Statement more info
located_in nuclear lumen	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nesprin-2

Names: KASH domain-containing protein 2; diminished cone electroretinogram; nesprin 2; nuance; nuclear envelope spectrin repeat protein 2; nucleus and actin connecting element protein; synaptic nuclear envelope 2; synaptic nuclear envelope protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001005510.2 → NP_001005510.2 nesprin-2

See identical proteins and their annotated locations for NP_001005510.2

Status: VALIDATED

Source sequence(s)

AC115714, AC159897, AC164121, AC166991

Consensus CDS

CCDS49091.1

UniProtKB/Swiss-Prot

Q640M5, Q6ZWQ0

UniProtKB/TrEMBL

E9QP46

Related

ENSMUSP00000047697.10, ENSMUST00000044217.16

Conserved Domains (8) summary

COG1196
Location:3247 → 4049

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK03918
Location:1414 → 2000

PRK03918; chromosome segregation protein; Provisional

cd00014
Location:33 → 135

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:6124 → 6334

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:2692 → 3557

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:184 → 283

CH; Calponin homology (CH) domain

pfam10541
Location:6845 → 6874

KASH; Nuclear envelope localization domain

cl02488
Location:4868 → 5039

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...