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

Gene ID: 319565, updated on 11-Jun-2024

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. Acts upstream of or within several processes, including fibroblast migration; nuclear envelope organization; and protein localization to nucleus. Located in Z disc and nuclear outer 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, Apr 2022]
Expression
Broad expression in ovary adult (RPKM 15.6), genital fat pad adult (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See Syne2 in Genome Data Viewer
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_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40890 Neighboring gene sphingosine-1-phosphate phosphatase 1 Neighboring gene predicted gene, 40447 Neighboring gene STARR-seq mESC enhancer starr_32502 Neighboring gene STARR-seq mESC enhancer starr_32504 Neighboring gene STARR-seq mESC enhancer starr_32505 Neighboring gene microRNA 5101 Neighboring gene STARR-seq mESC enhancer starr_32508 Neighboring gene estrogen receptor 2 (beta) Neighboring gene non-histone chromosomal protein HMG-14 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr12:77297652-77297952 Neighboring gene STARR-seq mESC enhancer starr_32511 Neighboring gene STARR-seq mESC enhancer starr_32513 Neighboring gene testis expressed gene 21

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC96690

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 ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
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 cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in filopodium membrane ISO
Inferred from Sequence Orthology
more info
 
located_in focal adhesion ISO
Inferred from Sequence Orthology
more info
 
located_in intermediate filament cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in lamellipodium membrane ISO
Inferred from Sequence Orthology
more info
 
part_of meiotic nuclear membrane microtubule tethering complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane 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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in sarcoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_001005510.2NP_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:32474049
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03918
    Location:14142000
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    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:61246334
    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:26923557
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:184283
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68456874
    KASH; Nuclear envelope localization domain
    cl02488
    Location:48685039
    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; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    75865092..76157702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)