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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 24832085
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 23587638
★☆☆☆☆
Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor Teratoid Rhabdoid Tumor BEFREE 24832085
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29163775, 29981820, 30675193
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26175118 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26658802, 29163775, 30675193
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 24832085
★☆☆☆☆
Found in Text Mining only
Embryonal Neoplasm Embryonal Neoplasm BEFREE 24832085
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 30282980
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 26658802 Inhibit
★☆☆☆☆
Found in Text Mining only