SYNE3 (spectrin repeat containing nuclear envelope family member 3)

Gene

• Entrez ID: 161176
• Gene name: Spectrin repeat containing nuclear envelope family member 3
• Gene symbol: SYNE3
• Synonyms (NCBI Gene): C14orf139, C14orf49, KASH3, LINC00341, NCRNA00341, NET53, Nesp3
• Chromosome: 14
• Chromosome location: 14q32.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018850	hsa-miR-335-5p	Microarray	18185580
MIRT021781	hsa-miR-132-3p	Microarray	17612493
MIRT043818	hsa-miR-328-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18396275, 18827015, 22518138, 33058875
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	21937718, 22518138
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IBA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0007010	Process	Cytoskeleton organization	IMP	21937718
GO:0007097	Process	Nuclear migration	IBA
GO:0008360	Process	Regulation of cell shape	IMP	21937718
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IBA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IMP	22518138
GO:0090150	Process	Establishment of protein localization to membrane	IDA	22518138
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275

Other IDs

• MIM: 610861
• HGNC: 19861
• e!Ensembl: ENSG00000176438

Protein

• UniProt ID: Q6ZMZ3
• Protein name: Nesprin-3 (KASH domain-containing protein 3) (KASH3) (Nuclear envelope spectrin repeat protein 3)
• 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: 6WME
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00435	Spectrin	648 → 746	Spectrin repeat	Domain
  PF10541	KASH	919 → 975	Nuclear envelope localisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in aortic endothelial cells (at protein level). {ECO:0000269|PubMed:21937718}.
• Sequence:

  MTQQPQDDFDRSVEDAQAWMKAVQDQLQVNDNTQGPRAALEARLWETEKICQLEPEGRVR
  VDLVLRMAEALLACCPGDQKPGILARLKDIKAQWEETVTYMTHCHSRIEWVWLHWSEYLL
  ARDEFYRWFQKMMVTLEPHIELQLGLKEKQWQLSHAQVLLHNVDNQAVLLDRLLEEAASL
  FNRIGDPSVDEDAQKRMKAEYDAVKAKAQKRVDLLEQVAREHEEYQAGVDEFQLWLKAVV
  EKVNGCLGRNCKLPITQRLSTLQDIAKDFPRGEESLETLEEQSAGVIRNTSPLGAEKITG
  ELEEMRKVLEKLRALWEEEEERLRGLLRSRGAWEQQIKQLEAELSEFRMVLQRLAQEGLQ
  PAAKAGTEDELVAHWRRYSATRAALASEEPRVDRLQAQLKELIVFPHNLKPLSDSVIATI
  QEYQSLKVKSARLRNAAAVELWQHFQRPLQDLQLWKALAQRLLEVTASLPDLPSLHTFLP
  QIEAALMESSRLKELLTMLQLKKDLLIGIFGQERATALLEQVAGSMRDRDLLHNSLLQRK
  SKLQSLLAQHKDFGAAFEPLQRKLLDLQVRVQAEKGLQRDLPGKQAQLSRLQGLQEEGLD
  LGAQMEAARPLVQENPNHQHKMDQLSSDFQALQRSLEDLVDRCRQSVQEHCTFSHQLLEL
  RQWIVVTTQKLEAHRGEAGPGDAESQEAEFERLVAEFPEKEAQLSLVEAQGWLVMEKSSP
  EGAAVVQEELRELAESWRALRLLEESLLSLIRNWHLQRMEVDSGKKMVFTNNIPKSGFLI
  NPMDPIPRHRRRANLLQEEEGSHEDFSQLLRNFGQWLQVENSKLVRIIAMRTSTAEDLRT
  RKSKLQELEARVPEGQHLFENLLRLGPARGTSDELEDLRYQWMLYKSKLKDSGHLLTQSS
  PGEPTGFQKTRRWRGLGSLFRRACCVALPLQLLLLLFLLLLFLLPIREEDRSCTLANNFA
  RSFTLMLRYNGPPPT

• Sequence length: 975

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALDENSTROM MACROGLOBULINEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Lung Neoplasms	Associate	29901114	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	29901114	★☆☆☆☆ Found in Text Mining only