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SUN2 Gene

protein-coding   GIFtS: 60
GCID: GC22M040102

Sad1 And UNC84 Domain Containing 2

(Previous name: unc-84 homolog B (C. elegans))
(Previous symbol: UNC84B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sad1 And UNC84 Domain Containing 21 2     rab5IP2
UNC84B1 2 3 5     Sad1 Unc-84 Domain Protein 22
Protein Unc-84 Homolog B2 3     SUN Domain-Containing Protein 22
Rab5-Interacting Protein2 3     Unc-84 Homolog B2
Sad1/Unc-84 Protein-Like 22 3     FRIGG3
KIAA06683 5     RAB5IP3
Unc-84 Homolog B (C. Elegans)1     Rab5IP3
Nuclear Envelope Protein2     

External Ids:    HGNC: 142101   Entrez Gene: 257772   Ensembl: ENSG000001002427   OMIM: 6135695   UniProtKB: Q9UH993   

Export aliases for SUN2 gene to outside databases

Previous GC identifers: GC22M039132 GC22M022096 GC22M039213 GC22M039418


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SUN2 Gene:
SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic
connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction
with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear
membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton,
which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 (PubMed
19933576)).(supplied by OMIM, Nov 2010)

GeneCards Summary for SUN2 Gene:
SUN2 (Sad1 and UNC84 domain containing 2) is a protein-coding gene. Diseases associated with SUN2 include chronic fatigue syndrome, and emerinopathy. GO annotations related to this gene include lamin binding and identical protein binding. An important paralog of this gene is SPAG4.

UniProtKB/Swiss-Prot: SUN2_HUMAN, Q9UH99
Function: Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the
nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal
filaments. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines
which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear
movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and
centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration.
Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and
non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis.
May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5

Gene Wiki entry for SUN2 (UNC84B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SUN2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUN2 promoter sequence
   Search Chromatin IP Primers for SUN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q12-q13

SUN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUN2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M040102:  view genomic region     (about GC identifiers)

Start:
39,130,719 bp from pter      End:
39,190,148 bp from pter
Size:
59,430 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SUN2_HUMAN, Q9UH99 (See protein sequence)
Recommended Name: SUN domain-containing protein 2  
Size: 717 amino acids; 80311 Da
Subunit: Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing
proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins
interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with
unique cytoskeletal components. Interacts with SYNE1, SYNE2 and SYNE3. Interacts with A-type lamin. Interaction
with lamins B1 and C is hardly detectable (By similarity). Interacts with EMD and RAB5A. Interacts with TMEM43
Caution: It is uncertain whether Met-1 or Met-50 is the initiator
Sequence caution: Sequence=BAA31643.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for SUN2:
3UNP (3D)        4DXR (3D)        4DXS (3D)        4DXT (3D)        4FI9 (3D)    
Secondary accessions: B0QY62 O75156 Q2NKN8 Q2T9F7 Q504T5 Q6B4H1 Q7Z3E3
Alternative splicing: 3 isoforms:  Q9UH99-1   Q9UH99-2   Q9UH99-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SUN2: NX_Q9UH99

Explore proteomics data for SUN2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys300, Lys392, Lys409, Lys491, Lys533, Lys570
  • Glycosylation2 at Asn636
  • Modification sites at PhosphoSitePlus

  • See SUN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186508.1  NP_001186509.1  NP_056189.1  

    ENSEMBL proteins: 
     ENSP00000385740   ENSP00000385616   ENSP00000383992   ENSP00000390154   ENSP00000403694  
     ENSP00000406941   ENSP00000415588   ENSP00000408834   ENSP00000414950   ENSP00000411615  
     ENSP00000412928   ENSP00000393271   ENSP00000395601   ENSP00000216064  
    Reactome Protein details: Q9UH99

    SUN2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SUN2
    OriGene Protein Over-expression Lysate for SUN2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SUN2
    GenScript Custom Purified and Recombinant Proteins Services for SUN2
    Novus Biologicals SUN2 Protein
    Novus Biologicals SUN2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SUN2

    SUN2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SUN2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SUN2
    OriGene Custom Antibody Services for SUN2
    Novus Biologicals SUN2 Antibodies
    Abcam antibodies for SUN2
    Cloud-Clone Corp. Antibodies for SUN2
    Search ThermoFisher Antibodies for SUN2
    LSBio Antibodies in human, mouse, rat for SUN2

    SUN2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SUN2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SUN2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SUN2
    Cloud-Clone Corp. CLIAs for SUN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012919 Sad1_UNC_C

    Graphical View of Domain Structure for InterPro Entry Q9UH99

    ProtoNet protein and cluster: Q9UH99

    1 Blocks protein domain: IPB012919 Sad1/UNC-like

    UniProtKB/Swiss-Prot: SUN2_HUMAN, Q9UH99
    Domain: The SUN domain may play a role in the nuclear anchoring and/or migration
    Similarity: Contains 1 SUN domain


    SUN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUN2_HUMAN, Q9UH99
    Function: Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the
    nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal
    filaments. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines
    which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear
    movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and
    centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration.
    Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and
    non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis.
    May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18396275
    GO:0005521lamin binding IDA19933576
    GO:0008017microtubule binding TAS10375507
    GO:0042802identical protein binding IPI--
         
    SUN2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SUN2:
     Decreased Wnt reporter activit  Increased S DNA content  Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sun2):
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  muscle 
     normal  reproductive system 

    SUN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sun2tm1Mhan for SUN2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SUN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SUN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SUN2:
    hsa-mir-130b-3p (MIRT020123), hsa-mir-30c-5p (MIRT047952), hsa-mir-103a-3p (MIRT027033), hsa-mir-27a-3p (MIRT050037), hsa-mir-222-3p (MIRT046749), hsa-mir-1226-3p (MIRT036434)

    Block miRNA regulation of human, mouse, rat SUN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUN2 (see all 30):
    hsa-miR-448 hsa-miR-938 hsa-miR-507 hsa-miR-221 hsa-miR-103a hsa-miR-374c hsa-miR-542-3p hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidSUN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUN2
    Predesigned siRNA for gene silencing in human, mouse, rat SUN2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SUN2

    Clone
    Products:
         
    OriGene clones in human, mouse for SUN2 (see all 6)
    OriGene ORF clones in mouse, rat for SUN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SUN2 (NM_015374)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUN2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SUN2
    Browse ESI BIO Cell Lines and PureStem Progenitors for SUN2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SUN2_HUMAN, Q9UH99: Nucleus inner membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass
    type II membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytoskeleton1
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IEA--
    GO:0000794condensed nuclear chromosome IEA--
    GO:0005635nuclear envelope TAS10375507
    GO:0005637nuclear inner membrane IEA--
    GO:0010008endosome membrane IEA--

    SUN2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SUN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    2Cell Cycle, Mitotic
    Cell Cycle0.90
    3Meiosis (REACTOME)
    Meiosis0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SUN2
        Meiotic synapsis



    SUN2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SUN2
    Interactions:

        Search GeneGlobe Interaction Network for SUN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SUN2 (Q9UH991, 2, 3 ENSP000002160644) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA2P522921, 2, 3, ENSP000003324554EBI-1044964,EBI-349938 MINT-7993400 MINT-7993425 MINT-7993447 I2D: score=1 STRING: ENSP00000332455
    COPB1P536181, 2, 3, ENSP000002499234EBI-1044964,EBI-359063 MINT-7993501 MINT-7993475 I2D: score=1 STRING: ENSP00000249923
    KPNB1Q149742, ENSP000002901584MINT-7993425 MINT-7993447 STRING: ENSP00000290158
    AGO3Q9H9G73, ENSP000003622874I2D: score=2 STRING: ENSP00000362287
    BTRCQ9Y2973, ENSP000003592064I2D: score=2 STRING: ENSP00000359206
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006998nuclear envelope organization IGI16380439
    GO:0007052mitotic spindle organization TAS10375507
    GO:0007097nuclear migration TAS10508607
    GO:0030335positive regulation of cell migration ISS--
    GO:0031022nuclear migration along microfilament ISS--

    SUN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SUN2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SUN2 gene (3 alternative transcripts): 
    NM_001199579.1  NM_001199580.1  NM_015374.2  

    Unigene Cluster for SUN2:

    Sad1 and UNC84 domain containing 2
    Hs.517622  [show with all ESTs]
    Unigene Representative Sequence: NM_001199579
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000405510(uc011anz.2 uc011aoa.2 uc003awh.2 uc010gxr.2)
    ENST00000405018(uc010gxq.2 uc003awi.2) ENST00000406622 ENST00000455125
    ENST00000470642 ENST00000477262 ENST00000469086 ENST00000464202 ENST00000430185
    ENST00000438058 ENST00000456894 ENST00000480307 ENST00000420859 ENST00000452294
    ENST00000494273 ENST00000433561 ENST00000417332 ENST00000439339
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SUN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUN2 (see all 30):
    hsa-miR-448 hsa-miR-938 hsa-miR-507 hsa-miR-221 hsa-miR-103a hsa-miR-374c hsa-miR-542-3p hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidSUN2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SUN2
    Predesigned siRNA for gene silencing in human, mouse, rat SUN2
    Clone
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    OriGene clones in human, mouse for SUN2 (see all 6)
    OriGene ORF clones in mouse, rat for SUN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SUN2 (NM_015374)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUN2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SUN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUN2
      QuantiTect SYBR Green Assays in human, mouse, rat SUN2
      QuantiFast Probe-based Assays in human, mouse, rat SUN2

    Additional mRNA sequence: 

    AB014568.1 AF038178.1 AF202723.1 AK295787.1 AK304188.1 AY682988.1 BC030684.2 BC069253.1 
    BC094797.1 BC111549.1 BC111717.1 BX537962.1 CR456474.1 

    Selected DOTS entries (see all 27):

    DT.100888534  DT.317752  DT.100712670  DT.95234493  DT.99980201  DT.100888531  DT.91985673  DT.100888536 
    DT.100888528  DT.120664951  DT.91926609  DT.92439577  DT.99932419  DT.100705092  DT.100888526  DT.100888539 
    DT.100888543  DT.40270436  DT.92439579  DT.95203185  DT.102832225  DT.120664782  DT.120664854  DT.120664816 

    Selected AceView cDNA sequences (see all 393):

    BQ224919 NM_015374 BF360628 BU631730 AI089258 AI474414 AW264005 BM921951 
    BQ893662 AA323188 AI474442 F29929 AF202723 AW002052 BM709723 CA407481 
    BM905022 CD365855 BG676681 AA339007 BG621258 BC069253 CR456474 BQ898737 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SUN2 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10a · 10b ^ 11 ^
    SP1:                                            -     -     -     -                       -           -                             -                           
    SP2:                                                                                      -           -                                                         
    SP3:                    -     -     -     -     -     -     -     -     -     -           -           -                             -                           
    SP4:                    -     -     -     -     -     -     -     -                       -           -                             -                           
    SP5:                    -     -     -     -     -     -     -     -                       -           -     -     -     -     -     -                           

    ExUns: 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b
    SP1:                                -     -     -                                                     -               
    SP2:                                -     -     -                                                     -               
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for SUN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SUN2 expression in normal human tissues (normalized intensities)      SUN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTGGATG
    SUN2 Expression
    About this image


    SUN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SUN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517622

    UniProtKB/Swiss-Prot: SUN2_HUMAN, Q9UH99
    Tissue specificity: Widely expressed. Highly expressed in heart, lung and muscle. Weakly expressed in fetal heart.
    Slightly overexpressed in some heart tissues form patients with congenital heart defects

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SUN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sun21 , 5 Sad1 and UNC84 domain containing 21, 5 82.33(n)1
    82.15(a)1
      15 (37.85 cM)5
    2236971  NM_001205345.11  NP_001192274.11 
     797240705 
    chicken
    (Gallus gallus)
    Aves SUN21 Sad1 and UNC84 domain containing 2 61.14(n)
    51.85(a)
      418021  XM_416257.4  XP_416257.4 
    lizard
    (Anolis carolinensis)
    Reptilia SUN26
    Sad1 and UNC84 domain containing 2
    57(a)
    1 ↔ 1
    5(24199467-24241009)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sun21 Sad1 and UNC84 domain containing 2 52.37(n)
    45.76(a)
      100494901  XM_002933759.2  XP_002933805.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-92f12.21 si:dkey-92f12.2 49.48(n)
    44.74(a)
      796761  XM_001919656.4  XP_001919691.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta koi6
    klaroid
    27(a)
    1 → many
    2R(2702565-2705704)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-846
    Protein UNC-84, isoform a
    13(a)
    1 → many
    X(13584775-13589827) WBGene00006816


    ENSEMBL Gene Tree for SUN2 (if available)
    TreeFam Gene Tree for SUN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SUN2 gene
    SPAG42  SUN12  SUN32  SUN52  
    6 SIMAP similar genes for SUN2 using alignment to 11 protein entries:     SUN2_HUMAN (see all proteins):
    UNC84B    SUN3    UNC84A    SUN1    SPAG4    SUN5

    SUN2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SUN2
    PGOHUM00000259707


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SUN2 (see all 629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875204421,2
    --39130358(+) GAATTC/TCCATG 3 -- int10--------
    rs1931467311,2
    --39130447(+) GAGACA/GGGAAA 3 -- int10--------
    rs1448548511,2
    C--39130466(+) GCTCCC/TGCCCC 3 -- int10--------
    rs1856679881,2
    --39130749(+) GGCGTC/TATTTA 3 -- ut310--------
    rs783702681,2
    F--39130832(+) GAGAGC/TGCAAA 3 -- ut311Minor allele frequency- T:0.01NA 120
    rs1485814501,2
    --39130835(+) AGCGCA/CAAACA 3 -- ut310--------
    rs170321,2
    C,F,H--39130843(+) ACAAAC/GCCTGG 3 -- ut3121Minor allele frequency- G:0.49EA MN NS NA WA CSA 2698
    rs1905781271,2
    --39130865(+) TGGAGC/TGGGGC 3 -- ut310--------
    rs10434411,2
    C,F,A,H--39130964(-) GCTGCG/AGGGAA 3 -- ut31 ese3 trp317Minor allele frequency- A:0.30MN NS EA NA WA 2520
    rs98351,2
    C,F,A--39130971(+) CAGCCG/AGACCA 3 -- ut3113Minor allele frequency- A:0.49MN NA WA CSA EA 745

    HapMap Linkage Disequilibrium report for SUN2 (39130719 - 39190148 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SUN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991516CNV Deletion20482838
    nsv915067CNV Loss21882294
    nsv915068CNV Loss21882294
    dgv769n67CNV Gain20364138

    Human Gene Mutation Database (HGMD): SUN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SUN2
    DNA2.0 Custom Variant and Variant Library Synthesis for SUN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613569    OMIM disorders: --

    Selected diseases for SUN2 (see all 27):    About MalaCards
    chronic fatigue syndrome    emerinopathy    reynolds syndrome    familial dilated cardiomyopathy
    emery-dreifuss muscular dystrophy    neuromuscular disease    fibromyalgia    dilated cardiomyopathy
    primary biliary cirrhosis    congenital heart defect    tooth disease    charcot-marie-tooth disease
    muscular dystrophy    liver disease    non-hodgkin lymphoma    hodgkin's lymphoma
    systemic lupus erythematosus    lupus erythematosus    tonsillitis    cerebritis


    SUN2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for SUN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy emery-dreifuss 91.7 3 15639119 (1), 18646565 (1), 16904876 (1)
    limb girdle 63.7 1 18646565 (1)
    dilated cardiomyopathy 60.4 2 11561226 (1), 11728149 (1)
    biliary cirrhosis primary 53.8 5 9089913 (2), 17931195 (1), 10462521 (1), 12753810 (1)
    muscular dystrophies 53.4 2 18646565 (1), 19716805 (1)
    charcot-marie-tooth disease 34.9 1 15639119 (1)
    chronic fatigue syndrome 27.2 1 9567202 (1)
    neuromuscular diseases 23 1 12661041 (1)
    liver diseases 4.51 2 1651247 (1), 1959878 (1)

    Human Genome Epidemiology (HuGE) Navigator: SUN2 (1 document)

    Export disorders for SUN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SUN2 gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with SUN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UNC-84 localizes to the nuclear envelope and is required for nuclear migration and anchoring during C. elegans development. (PubMed id 10375507)1, 2, 3 Malone C.J.... Han M. (Development 1999)
    2. Isolation of differentially expressed genes in human heart tissues. (PubMed id 12393179)1, 2, 9 Sun G....Ping Leung M. (Biochim. Biophys. Acta 2002)
    3. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PubMed id 18396275)1, 2 Stewart-Hutchinson P.J.... Hodzic D. (Exp. Cell Res. 2008)
    4. Characterization of the structures involved in localization of the SUN proteins to the nuclear envelope and the centrosome. (PubMed id 17132086)1, 2 Wang Q.... Greene M.I. (DNA Cell Biol. 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 2 Schirmer E.C.... Gerace L. (Science 2003)
    9. A mass spectrometry-based proteomic approach for identification of serine/threonine-phosphorylated proteins by enrichment with phospho- specific antibodies: identification of a novel protein, Frigg, as a protein kinase A substrate. (PubMed id 12239280)1, 2 Gronborg M.... Pandey A. (Mol. Cell. Proteomics 2002)
    10. A novel membrane-anchored Rab5 interacting protein required for homotypic endosome fusion. (PubMed id 10818110)1, 2 Hoffenberg S.... Knoll B.J. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25777 HGNC: 14210 AceView: UNC84B Ensembl:ENSG00000100242 euGenes: HUgn25777
    ECgene: SUN2 H-InvDB: SUN2

    (According to HUGE)
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    HUGE: KIAA0668

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SUN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SUN2 gene:
    Search GeneIP for patents involving SUN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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