Gene Gene information from NCBI Gene database.
Entrez ID 25777
Gene name Sad1 and UNC84 domain containing 2
Gene symbol SUN2
Synonyms (NCBI Gene)
UNC84Brab5IP
Chromosome 22
Chromosome location 22q13.1
Summary 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 KAS
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT020123 hsa-miR-130b-3p Sequencing 20371350
MIRT027033 hsa-miR-103a-3p Sequencing 20371350
MIRT050037 hsa-miR-27a-3p CLASH 23622248
MIRT047952 hsa-miR-30c-5p CLASH 23622248
MIRT046749 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region IEA
GO:0000794 Component Condensed nuclear chromosome IEA
GO:0005515 Function Protein binding IPI 18396275, 19933576, 20551905, 21391237, 21988832, 22555292, 22632968, 25416956, 26496610, 28514442, 30833792, 31980649, 32353859, 33058875, 33060197, 33393904, 33961781, 35311970, 36217030
GO:0005521 Function Lamin binding IDA 19933576
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613569 14210 ENSG00000100242
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UH99
Protein name SUN domain-containing protein 2 (Protein unc-84 homolog B) (Rab5-interacting protein) (Rab5IP) (Sad1/unc-84 protein-like 2)
Protein function As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role
PDB 3UNP , 4DXR , 4DXS , 4DXT , 4FI9 , 6WMD , 6WME , 6WMF , 6WMG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18580 HTH_SUN2 481 538 SUN2 helix-turn-helix domain Domain
PF07738 Sad1_UNC 581 715 Sad1 / UNC-like C-terminal Family
Tissue specificity 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. {ECO:0000269|PubMed:10818110, ECO:0000269|PubMed:1
Sequence
MSRRSQRLTRYSQGDDDGSSSSGGSSVAGSQSTLFKDSPLRTLKRKSSNMKRLSPAPQLG
PSSDAHTSYYSESLVHESWFPPRSSLEELHGDANWGEDLRVRRRRGTGGSESSRASGLVG
RKATEDFLGSSSGYSSEDDYVGYSDVDQQSSSSRLRSAVSRAGSLLWMVATSPGRLFRLL
YWWAGTTWYRLTTAASLLDVFVLTRRFSSLKTFLWFLLPLLLLTCLTYGAWYFYPYGLQT
FHPALVSWWAAKDSRRPDEGWEARDSSPHFQAEQRVMSRVHSLERRLEALAAEFSSNWQK
EAMRLERLELRQGAPGQGGGGGLSHEDTLALLEGLVSRREAALKEDFRRETAARIQEELS
ALRAEHQQDSEDLFKKIVRASQESEARIQQLKSEWQSMTQESFQESSVKELRRLEDQLAG
LQQELAALALKQSSVAEEVGLLPQQIQAVRDDVESQFPAWISQFLARGGGGRVGLLQREE
MQAQLRELESKILTHVAEMQGKSAREAAASLSLTLQKEGVIGVTEEQVHHIVKQALQRYS
EDRIGLADYALESGGASVISTRCSETYETKTALLSLFGIPLWYHSQSPRVILQPDVHPGN
CWAFQGPQGFAVVRLSARIRPTAVTLEHVPKALSPNSTISSAPKDFAIFGFDEDLQQEGT
LLGKFTYDQDGEPIQTFHFQAPTMATYQVVELRILTNWGHPEYTCIYRFRVHGEP
AH
Sequence length 717
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
408
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs199843484 RCV005901686
Cervical cancer Benign rs62639696, rs116680988 RCV005901372
RCV005901374
Colon adenocarcinoma Likely benign; Uncertain significance rs201945306, rs368321480 RCV005912773
RCV005909062
Emery-Dreifuss muscular dystrophy Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs148038201, rs2092844667, rs760739182, rs201453554, rs769627673, rs200311518, rs2092930608, rs146324000, rs771840984, rs149995796, rs2092804001, rs1384723835, rs901495726, rs750454076, rs767238921
View all (367 more)
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Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Inhibit 26175118
Charcot Marie Tooth Disease Associate 22555292
Charcot Marie Tooth disease Type 2B Associate 22555292
HIV Infections Associate 26865710
HIV Infections Inhibit 28077629, 34592156
HTLV I Infections Associate 28747499
Infections Associate 28077629
Leukemia Lymphoma Adult T Cell Associate 26865710
Lung Neoplasms Inhibit 26658802
Lymphoma Non Hodgkin Stimulate 17827388