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Aliases for SUN2 Gene

Aliases for SUN2 Gene

  • Sad1 And UNC84 Domain Containing 2 2 3 5
  • Sad1/Unc-84 Protein-Like 2 3 4
  • Rab5-Interacting Protein 3 4
  • Protein Unc-84 Homolog B 3 4
  • Rab5IP 3 4
  • UNC84B 3 4
  • Unc-84 Homolog B (C. Elegans) 2
  • Sad1 Unc-84 Domain Protein 2 3
  • Nuclear Envelope Protein 3
  • Unc-84 Homolog B 3
  • KIAA0668 4
  • FRIGG 4

External Ids for SUN2 Gene

Previous HGNC Symbols for SUN2 Gene

  • UNC84B

Previous GeneCards Identifiers for SUN2 Gene

  • GC22M039132
  • GC22M022096
  • GC22M039213
  • GC22M039418
  • GC22M040102
  • GC22M038755
  • GC22M038866

Summaries for SUN2 Gene

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 Emery-Dreifuss Muscular Dystrophy and Emerinopathy. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include identical protein binding and lamin binding. An important paralog of this gene is SUN5.

UniProtKB/Swiss-Prot for SUN2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUN2 Gene

Genomics for SUN2 Gene

Regulatory Elements for SUN2 Gene

Enhancers for SUN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SUN2 on UCSC Golden Path with GeneCards custom track

Promoters for SUN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SUN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SUN2 Gene

Chromosome:
22
Start:
38,734,714 bp from pter
End:
38,794,143 bp from pter
Size:
59,430 bases
Orientation:
Minus strand

Genomic View for SUN2 Gene

Genes around SUN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUN2 Gene

Proteins for SUN2 Gene

  • Protein details for SUN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH99-SUN2_HUMAN
    Recommended name:
    SUN domain-containing protein 2
    Protein Accession:
    Q9UH99
    Secondary Accessions:
    • B0QY62
    • O75156
    • Q2NKN8
    • Q2T9F7
    • Q504T5
    • Q6B4H1
    • Q7Z3E3

    Protein attributes for SUN2 Gene

    Size:
    717 amino acids
    Molecular mass:
    80311 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA31643.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SUN2 Gene

    Alternative splice isoforms for SUN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUN2 Gene

Proteomics data for SUN2 Gene at MOPED

Post-translational modifications for SUN2 Gene

  • Ubiquitination at Lys 300, Lys 392, Lys 409, Lys 491, Lys 533, and Lys 570
  • Glycosylation at Asn 636
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUN2 Gene

Domains & Families for SUN2 Gene

Protein Domains for SUN2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UH99

UniProtKB/Swiss-Prot:

SUN2_HUMAN :
  • The SUN domain may play a role in the nuclear anchoring and/or migration.
Domain:
  • The SUN domain may play a role in the nuclear anchoring and/or migration.
  • Contains 1 SUN domain.
genes like me logo Genes that share domains with SUN2: view

No data available for Gene Families for SUN2 Gene

Function for SUN2 Gene

Molecular function for SUN2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SUN2: view

Animal Models for SUN2 Gene

MGI Knock Outs for SUN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SUN2 Gene

Localization for SUN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUN2 Gene

Nucleus inner membrane; Single-pass type II membrane protein. Nucleus envelope. Endosome membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SUN2 Gene COMPARTMENTS Subcellular localization image for SUN2 gene
Compartment Confidence
nucleus 5
endosome 3
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS 10375507
GO:0005639 integral component of nuclear inner membrane IEA --
GO:0034993 LINC complex IEA,IDA 18396275
genes like me logo Genes that share ontologies with SUN2: view

Pathways & Interactions for SUN2 Gene

SuperPathways for SUN2 Gene

genes like me logo Genes that share pathways with SUN2: view

Pathways by source for SUN2 Gene

3 Reactome pathways for SUN2 Gene

Gene Ontology (GO) - Biological Process for SUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IGI 16380439
genes like me logo Genes that share ontologies with SUN2: view

No data available for SIGNOR curated interactions for SUN2 Gene

Drugs & Compounds for SUN2 Gene

No Compound Related Data Available

Transcripts for SUN2 Gene

Unigene Clusters for SUN2 Gene

Sad1 and UNC84 domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SUN2 Gene

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: - - - - - - - - - - - - - - -
SP6:
SP7:
SP8: - - - - - - - - -
SP9: - - - -
SP10:
SP11:
SP12: - - - - - - - - - - -
SP13: - - - - - -
SP14: - - - - - - - -
SP15: - -
SP16: -
SP17: - -
SP18:
SP19:

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:
SP6: - - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - -

Relevant External Links for SUN2 Gene

GeneLoc Exon Structure for
SUN2
ECgene alternative splicing isoforms for
SUN2

Expression for SUN2 Gene

mRNA expression in normal human tissues for SUN2 Gene

Protein differential expression in normal tissues from HIPED for SUN2 Gene

This gene is overexpressed in CD8 Tcells (11.7), Peripheral blood mononuclear cells (9.3), Nasal epithelium (7.3), and CD4 Tcells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SUN2 Gene



SOURCE GeneReport for Unigene cluster for SUN2 Gene Hs.517622

mRNA Expression by UniProt/SwissProt for SUN2 Gene

Q9UH99-SUN2_HUMAN
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.
genes like me logo Genes that share expression patterns with SUN2: view

Protein tissue co-expression partners for SUN2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SUN2 Gene

Orthologs for SUN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SUN2 35
  • 84.64 (n)
  • 84.36 (a)
UNC84B 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SUN2 35
  • 85.29 (n)
  • 86.31 (a)
SUN2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sun2 35
  • 82.33 (n)
  • 82.15 (a)
Sun2 16
Sun2 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SUN2 35
  • 99.3 (n)
  • 99.3 (a)
SUN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sun2 35
  • 82.94 (n)
  • 83.26 (a)
oppossum
(Monodelphis domestica)
Mammalia SUN2 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUN2 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUN2 35
  • 61.14 (n)
  • 51.85 (a)
SUN2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUN2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sun2 35
  • 52.37 (n)
  • 45.76 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-92f12.2 35
  • 49.48 (n)
  • 44.74 (a)
SUN2 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta koi 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-84 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for SUN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SUN2 Gene

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

Paralogs for SUN2 Gene

Paralogs for SUN2 Gene

Pseudogenes.org Pseudogenes for SUN2 Gene

genes like me logo Genes that share paralogs with SUN2: view

Variants for SUN2 Gene

Sequence variations from dbSNP and Humsavar for SUN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_024624 -
rs2072799 - 38,752,532(+) CAGGG(C/T)GCTCT reference, missense
rs35496634 - 38,751,230(+) CATGC(A/C/G)GTTCC reference, missense
rs138708 - 38,742,327(+) CCTGC(A/G/T)GAAAT reference, missense
rs2281022 -- 38,752,779(+) CCCCC(C/G)GCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SUN2 Gene

Variant ID Type Subtype PubMed ID
nsv915067 CNV Loss 21882294
nsv915068 CNV Loss 21882294
dgv769n67 CNV Gain 20364138
esv991516 CNV Deletion 20482838

Variation tolerance for SUN2 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.15; 80.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SUN2 Gene

Human Gene Mutation Database (HGMD)
SUN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUN2 Gene

Disorders for SUN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SUN2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
emery-dreifuss muscular dystrophy
  • edmd
emerinopathy
reynolds syndrome
  • primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia
chronic fatigue syndrome
  • cfs
primary biliary cirrhosis
  • biliary liver cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search SUN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SUN2

Human Genome Epidemiology (HuGE) Navigator
SUN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SUN2
genes like me logo Genes that share disorders with SUN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUN2 Gene

Publications for SUN2 Gene

  1. UNC-84 localizes to the nuclear envelope and is required for nuclear migration and anchoring during C. elegans development. (PMID: 10375507) Malone C.J. … Han M. (Development 1999) 2 3 4 67
  2. Isolation of differentially expressed genes in human heart tissues. (PMID: 12393179) Sun G. … Ping Leung M. (Biochim. Biophys. Acta 2002) 3 23
  3. The missing (L) UNC? (PMID: 10508607) Raff J.W. (Curr. Biol. 1999) 2 3
  4. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  5. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3

Products for SUN2 Gene

Sources for SUN2 Gene

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