SYNE2 (spectrin repeat containing nuclear envelope protein 2)

2010-02-01  

Identity

HGNC
SYNE2
LOCATION
14q23.2
LOCUSID
23224
ALIAS
EDMD5,KASH2,NUA,NUANCE,Nesp2,Nesprin-2,SYNE-2,TROPH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23224
MIM: 608442
HGNC: 17084
Ensembl: ENSG00000054654

Variants:

dbSNP: 23224
ClinVar: 23224
TCGA: ENSG00000054654
COSMIC: SYNE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054654ENST00000341472Q8WXH0
ENSG00000054654ENST00000344113Q8WXH0
ENSG00000054654ENST00000357395A0A0A0MRE3
ENSG00000054654ENST00000358025Q8WXH0
ENSG00000054654ENST00000458046Q8WXH0
ENSG00000054654ENST00000553289G3V3D4
ENSG00000054654ENST00000553455G3V5N1
ENSG00000054654ENST00000553801A0A1W2PS37
ENSG00000054654ENST00000554584G3V5X4
ENSG00000054654ENST00000555002A0A0C4DGK3
ENSG00000054654ENST00000555241A0A1W2PRN9
ENSG00000054654ENST00000555612G3V4T3
ENSG00000054654ENST00000557084G3V2Q0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369305952023Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.3
369591772023Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression.7
369305952023Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.3
369591772023Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression.7
345581922022Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch.4
345581922022Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch.4
334720392021Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.6
336861652021The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.9
334720392021Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.6
336861652021The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.9
321840942020A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.2
321840942020A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.2
311447112019SPAG4L/SPAG4Lβ interacts with Nesprin2 to participate in the meiosis of spermatogenesis.5
315783822019Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.12
311447112019SPAG4L/SPAG4Lβ interacts with Nesprin2 to participate in the meiosis of spermatogenesis.5

Citation

Dessen P

SYNE2 (spectrin repeat containing nuclear envelope protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51353/deep-insight-explorer/tumors-explorer/favicon/favicon-16x16.png