Human Gene SUN2 (ENST00000689035.1_4) from GENCODE V47lift37
  Description: Sad1 and UNC84 domain containing 2, transcript variant 2 (from RefSeq NM_015374.3)
Gencode Transcript: ENST00000689035.1_4
Gencode Gene: ENSG00000100242.16_15
Transcript (Including UTRs)
   Position: hg19 chr22:39,130,739-39,152,003 Size: 21,265 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr22:39,132,272-39,148,633 Size: 16,362 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:39,130,739-39,152,003)mRNA (may differ from genome)Protein (717 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SUN2_HUMAN
DESCRIPTION: RecName: Full=SUN domain-containing protein 2; AltName: Full=Protein unc-84 homolog B; AltName: Full=Rab5-interacting protein; Short=Rab5IP; AltName: Full=Sad1/unc-84 protein-like 2;
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.
SUBUNIT: Component of LINC complexes composed of SUN domain- containing proteins SUN1 or SUN2 coupled to KASH domain-containing proteins (SYNE1, SYNE2 or SYNE3), also called nesprins. Interacts with EMD, LMNA, RAB5A, SYNE1, SYNE2 and SYNE3.
INTERACTION: Self; NbExp=2; IntAct=EBI-1044964, EBI-1044964; Q8NF91:SYNE1; NbExp=3; IntAct=EBI-1044964, EBI-928867; Q8NF91-1:SYNE1; NbExp=2; IntAct=EBI-1044964, EBI-6170938; Q8WXH0:SYNE2; NbExp=5; IntAct=EBI-1044964, EBI-2372294; Q8WXH0-1:SYNE2; NbExp=2; IntAct=EBI-1044964, EBI-6170976;
SUBCELLULAR LOCATION: Nucleus inner membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein (Probable).
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.
DOMAIN: The SUN domain may play a role in the nuclear anchoring and/or migration.
SIMILARITY: Contains 1 SUN domain.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SUN2
Diseases sorted by gene-association score: emery-dreifuss muscular dystrophy (14), emerinopathy (10), reynolds syndrome (8), chronic fatigue syndrome (6), dilated cardiomyopathy (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.40273-0.503 Picture PostScript Text
3' UTR -685.001533-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012919 - Sad1_UNC_C

Pfam Domains:
PF07738 - Sad1 / UNC-like C-terminal
PF18580 - SUN2 helix-turn-helix domain

SCOP Domains:
49785 - Galactose-binding domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
58100 - Bacterial hemolysins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3UNP - X-ray MuPIT 4DXR - X-ray MuPIT 4DXS - X-ray MuPIT 4DXT - X-ray MuPIT 4FI9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UH99
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005521 lamin binding
GO:0008017 microtubule binding
GO:0042802 identical protein binding
GO:0043495 protein anchor

Biological Process:
GO:0006998 nuclear envelope organization
GO:0007052 mitotic spindle organization
GO:0007097 nuclear migration
GO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration
GO:0030335 positive regulation of cell migration
GO:0031022 nuclear migration along microfilament
GO:0051321 meiotic cell cycle
GO:0051642 centrosome localization
GO:0090286 cytoskeletal anchoring at nuclear membrane
GO:0090292 nuclear matrix anchoring at nuclear membrane

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0000794 condensed nuclear chromosome
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005639 integral component of nuclear inner membrane
GO:0005768 endosome
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0034993 LINC complex


-  Descriptions from all associated GenBank mRNAs
  AF038178 - Homo sapiens clone 23912 mRNA sequence.
BC069253 - Homo sapiens unc-84 homolog B (C. elegans), mRNA (cDNA clone IMAGE:4589498), partial cds.
AB014568 - Homo sapiens KIAA0668 mRNA for KIAA0668 protein.
LF210368 - JP 2014500723-A/17871: Polycomb-Associated Non-Coding RNAs.
LF337347 - JP 2014500723-A/144850: Polycomb-Associated Non-Coding RNAs.
BX537962 - Homo sapiens mRNA; cDNA DKFZp686F10107 (from clone DKFZp686F10107); complete cds.
BC030684 - Homo sapiens unc-84 homolog B (C. elegans), mRNA (cDNA clone IMAGE:3639673), partial cds.
BC094797 - Homo sapiens unc-84 homolog B (C. elegans), mRNA (cDNA clone MGC:104757 IMAGE:4799090), complete cds.
JD333861 - Sequence 314885 from Patent EP1572962.
JD177328 - Sequence 158352 from Patent EP1572962.
JD445219 - Sequence 426243 from Patent EP1572962.
JD540531 - Sequence 521555 from Patent EP1572962.
JD526571 - Sequence 507595 from Patent EP1572962.
JD454941 - Sequence 435965 from Patent EP1572962.
JD453056 - Sequence 434080 from Patent EP1572962.
JD025502 - Sequence 6526 from Patent EP1572962.
JD028226 - Sequence 9250 from Patent EP1572962.
BC111549 - Homo sapiens unc-84 homolog B (C. elegans), mRNA (cDNA clone MGC:133055 IMAGE:40008751), complete cds.
BC111717 - Homo sapiens unc-84 homolog B (C. elegans), mRNA (cDNA clone MGC:133056 IMAGE:40008756), complete cds.
JD390238 - Sequence 371262 from Patent EP1572962.
JD335854 - Sequence 316878 from Patent EP1572962.
JD507434 - Sequence 488458 from Patent EP1572962.
JD223222 - Sequence 204246 from Patent EP1572962.
JD454300 - Sequence 435324 from Patent EP1572962.
JD262477 - Sequence 243501 from Patent EP1572962.
LF337348 - JP 2014500723-A/144851: Polycomb-Associated Non-Coding RNAs.
JD187901 - Sequence 168925 from Patent EP1572962.
JD532775 - Sequence 513799 from Patent EP1572962.
JD477329 - Sequence 458353 from Patent EP1572962.
LF337349 - JP 2014500723-A/144852: Polycomb-Associated Non-Coding RNAs.
JD259296 - Sequence 240320 from Patent EP1572962.
JD483896 - Sequence 464920 from Patent EP1572962.
JD039177 - Sequence 20201 from Patent EP1572962.
JD321367 - Sequence 302391 from Patent EP1572962.
LF337350 - JP 2014500723-A/144853: Polycomb-Associated Non-Coding RNAs.
JD215464 - Sequence 196488 from Patent EP1572962.
JD220389 - Sequence 201413 from Patent EP1572962.
JD270855 - Sequence 251879 from Patent EP1572962.
JD391057 - Sequence 372081 from Patent EP1572962.
JD078949 - Sequence 59973 from Patent EP1572962.
JD146357 - Sequence 127381 from Patent EP1572962.
JD495983 - Sequence 477007 from Patent EP1572962.
JD401543 - Sequence 382567 from Patent EP1572962.
AK289744 - Homo sapiens cDNA FLJ75032 complete cds, highly similar to Homo sapiens unc-84 homolog B (C. elegans) (UNC84B), mRNA.
JD492712 - Sequence 473736 from Patent EP1572962.
JD173007 - Sequence 154031 from Patent EP1572962.
AK295787 - Homo sapiens cDNA FLJ59542 complete cds, highly similar to Sad1/unc-84-like protein 2.
JD149160 - Sequence 130184 from Patent EP1572962.
JD522588 - Sequence 503612 from Patent EP1572962.
JD211567 - Sequence 192591 from Patent EP1572962.
AK304188 - Homo sapiens cDNA FLJ55508 complete cds, highly similar to Sad1/unc-84-like protein 2.
JD260238 - Sequence 241262 from Patent EP1572962.
JD256685 - Sequence 237709 from Patent EP1572962.
CR456474 - Homo sapiens dJ508I15.4 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.dJ508I15.4).
JD058876 - Sequence 39900 from Patent EP1572962.
AY682988 - Homo sapiens SUN2 mRNA, complete cds.
JD229855 - Sequence 210879 from Patent EP1572962.
CU013024 - Homo sapiens UNC84B, mRNA (cDNA clone IMAGE:100000186), complete cds, with stop codon, in Gateway system.
KJ893457 - Synthetic construct Homo sapiens clone ccsbBroadEn_02851 SUN2 gene, encodes complete protein.
KR711562 - Synthetic construct Homo sapiens clone CCSBHm_00025980 SUN2 (SUN2) mRNA, encodes complete protein.
AF202723 - Homo sapiens Sad1 unc-84 domain protein 2 (SUN2) mRNA, partial cds.
AB383950 - Synthetic construct DNA, clone: pF1KSDA0668, Homo sapiens UNC84B gene for Sad1/unc-84-like protein 2, complete cds, without stop codon, in Flexi system.
CU013312 - Homo sapiens UNC84B, mRNA (cDNA clone IMAGE:100000090), complete cds, without stop codon, in Gateway system.
AM392760 - Synthetic construct Homo sapiens clone IMAGE:100002406 for hypothetical protein (UNC84B gene).
LF337351 - JP 2014500723-A/144854: Polycomb-Associated Non-Coding RNAs.
LF337352 - JP 2014500723-A/144855: Polycomb-Associated Non-Coding RNAs.
JD128830 - Sequence 109854 from Patent EP1572962.
MA445945 - JP 2018138019-A/17871: Polycomb-Associated Non-Coding RNAs.
MA572924 - JP 2018138019-A/144850: Polycomb-Associated Non-Coding RNAs.
MA572925 - JP 2018138019-A/144851: Polycomb-Associated Non-Coding RNAs.
MA572926 - JP 2018138019-A/144852: Polycomb-Associated Non-Coding RNAs.
MA572927 - JP 2018138019-A/144853: Polycomb-Associated Non-Coding RNAs.
MA572928 - JP 2018138019-A/144854: Polycomb-Associated Non-Coding RNAs.
MA572929 - JP 2018138019-A/144855: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UH99 (Reactome details) participates in the following event(s):

R-HSA-1221632 Meiotic synapsis
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B0QY62, FRIGG, KIAA0668, NM_015374, O75156, Q2NKN8, Q2T9F7, Q504T5, Q6B4H1, Q7Z3E3, Q9UH99, RAB5IP, SUN2 , SUN2_HUMAN, uc330swg.1, uc330swg.2, UNC84B
UCSC ID: ENST00000689035.1_4
RefSeq Accession: NM_015374.3
Protein: Q9UH99 (aka SUN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.