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    SYNE2 spectrin repeat containing nuclear envelope protein 2 [ Homo sapiens (human) ]

    Gene ID: 23224, updated on 6-Aug-2017
    Official Symbol
    SYNE2provided by HGNC
    Official Full Name
    spectrin repeat containing nuclear envelope protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17084
    See related
    Ensembl:ENSG00000054654 MIM:608442; Vega:OTTHUMG00000140349
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NUA; EDMD5; KASH2; Nesp2; TROPH; NUANCE; SYNE-2; Nesprin-2
    Summary
    The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Orthologs
    Location:
    14q23.2
    Exon count:
    123
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (63761904..64226449)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64319683..64693167)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 116 pseudogene Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 1 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene14 Neighboring gene ribosomal protein S28 pseudogene 1 Neighboring gene microRNA 548h-1 Neighboring gene estrogen receptor 2 Neighboring gene testis expressed 21, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Emery-Dreifuss muscular dystrophy 5, autosomal dominant
    MedGen: C2751805 OMIM: 612999 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    NHGRI GWA Catalog
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    NHGRI GWA Catalog
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic synapsis, organism-specific biosystem (from REACTOME)
      Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11014, FLJ43727, FLJ45710, FLJ46790, KIAA1011, DKFZp434H2235, DKFZp686H1931, DKFZp686E01115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeletal anchoring at nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment or maintenance of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope organization IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear migration along microfilament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    LINC complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aggresome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    lamellipodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    nesprin-2
    Names
    KASH domain-containing protein 2
    nesprin 2
    nuclear envelope spectrin repeat protein 2
    nucleus and actin connecting element protein
    polytrophin
    spectrin repeat containing, nuclear envelope 2
    synaptic nuclear envelope protein 2
    synaptic nuclei expressed gene 2

    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.

    Genomic

    1. NG_011756.1 RefSeqGene

      Range
      5001..378485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015180.4NP_055995.4  nesprin-2 isoform 1

      See identical proteins and their annotated locations for NP_055995.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 5. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 5.
      Source sequence(s)
      AF435011, AF495911, AI685725, AL355094, DB271849
      Consensus CDS
      CCDS41963.1
      UniProtKB/Swiss-Prot
      Q8WXH0
      Related
      ENSP00000341781.4, OTTHUMP00000179075, ENST00000344113.8, OTTHUMT00000276994
      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68546885
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    2. NM_182910.2NP_878914.1  nesprin-2 isoform 2

      See identical proteins and their annotated locations for NP_878914.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (2) is shorter at the N-terminus compared to isoform 5.
      Source sequence(s)
      AI685725, AY184204
      Consensus CDS
      CCDS45125.1
      UniProtKB/Swiss-Prot
      Q8WXH0
      Related
      ENSP00000492333.1, OTTHUMP00000245358, ENST00000639659.1, OTTHUMT00000412152
      Conserved Domains (2) summary
      cd00176
      Location:84307
      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; ...
      pfam10541
      Location:398429
      KASH; Nuclear envelope localization domain
    3. NM_182913.2NP_878917.1  nesprin-2 isoform 4

      See identical proteins and their annotated locations for NP_878917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (4) is shorter at the N-terminus compared to isoform 5.
      Source sequence(s)
      AI685725, AL355094, AY061758, DA825926
      Consensus CDS
      CCDS45124.1
      UniProtKB/Swiss-Prot
      Q8WXH0
      Related
      ENSP00000391937.2, OTTHUMP00000245357, ENST00000458046.6, OTTHUMT00000412151
      Conserved Domains (2) summary
      cd00176
      Location:210433
      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; ...
      pfam10541
      Location:525556
      KASH; Nuclear envelope localization domain
    4. NM_182914.2NP_878918.2  nesprin-2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AF495911, AI685725, AK095087, AK095241, AK127612, AL355094, AL359235, BX640974, DB271849
      Consensus CDS
      CCDS9761.2
      UniProtKB/Swiss-Prot
      Q8WXH0
      UniProtKB/TrEMBL
      Q6MZP0
      Related
      ENSP00000350719.3, ENST00000358025.7
      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68766907
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      63761904..64226449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536576.2XP_011534878.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534878.1

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69056936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    2. XM_011536574.1XP_011534876.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534876.1

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69056936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    3. XM_011536578.1XP_011534880.1  nesprin-2 isoform X2

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69046935
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    4. XM_011536579.1XP_011534881.1  nesprin-2 isoform X4

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68916922
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    5. XM_011536580.1XP_011534882.1  nesprin-2 isoform X6

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68906921
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    6. XM_005267454.1XP_005267511.1  nesprin-2 isoform X3

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68916922
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    7. XM_005267456.1XP_005267513.1  nesprin-2 isoform X5

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68906921
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    8. XM_005267457.1XP_005267514.1  nesprin-2 isoform X9

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68776908
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    9. XM_011536581.1XP_011534883.1  nesprin-2 isoform X8

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68826913
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    10. XM_005267458.1XP_005267515.1  nesprin-2 isoform X10

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68686899
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    11. XM_005267459.1XP_005267516.1  nesprin-2 isoform X12

      Related
      ENSP00000349969.4, ENST00000357395.7
      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68536884
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    12. XM_011536582.1XP_011534884.1  nesprin-2 isoform X11

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682417
      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:60986311
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:68666897
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51395345
      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; ...
    13. XM_011536584.2XP_011534886.1  nesprin-2 isoform X13

      Conserved Domains (5) summary
      COG1196
      Location:28733746
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      TIGR02168
      Location:18982639
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      cl02488
      Location:18402031
      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; ...
    14. XM_011536577.2XP_011534879.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534879.1

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69056936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    15. XM_011536575.2XP_011534877.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534877.1

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69056936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    16. XM_017021101.1XP_016876590.1  nesprin-2 isoform X1

      Conserved Domains (7) summary
      COG0419
      Location:32983912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:18682369
      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:61376350
      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; ...
      pfam00307
      Location:182281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:69056936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:51785384
      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; ...
    17. XM_017021102.1XP_016876591.1  nesprin-2 isoform X7

    18. XM_017021103.1XP_016876592.1  nesprin-2 isoform X14

      Related
      OTTHUMP00000245354, OTTHUMT00000412145
    19. XM_017021104.1XP_016876593.1  nesprin-2 isoform X15

    RNA

    1. XR_001750198.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      64258594..64632989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182912.1: Suppressed sequence

      Description
      NM_182912.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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