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

Gene ID: 23224, updated on 5-Aug-2018

Summary

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]
Expression
Ubiquitous expression in skin (RPKM 13.7), kidney (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See SYNE2 in Genome Data Viewer
Location:
14q23.2
Exon count:
123
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
centriole-centriole cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
aggresome IDA
Inferred from Direct Assay
more info
 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA 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 
meiotic nuclear membrane microtubule tethering complex 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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 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_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; ...
  6. 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; ...
  7. 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; ...
  8. 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; ...
  9. 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; ...
  10. 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; ...
  11. 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; ...
  12. XM_011536580.2XP_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; ...
  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_017021103.2XP_016876592.1  nesprin-2 isoform X14

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

RNA

  1. XR_001750198.1 RNA Sequence

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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