SYNE2 (spectrin repeat containing nuclear envelope protein 2)

2010-02-01 Affiliation

Identity

HGNC

SYNE2

LOCATION

14q23.2

LOCUSID

23224

ALIAS

EDMD5,KASH2,NUA,NUANCE,Nesp2,Nesprin-2,SYNE-2,TROPH

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000054654	ENST00000341472	Q8WXH0
ENSG00000054654	ENST00000344113	Q8WXH0
ENSG00000054654	ENST00000357395	A0A0A0MRE3
ENSG00000054654	ENST00000358025	Q8WXH0
ENSG00000054654	ENST00000458046	Q8WXH0
ENSG00000054654	ENST00000553289	G3V3D4
ENSG00000054654	ENST00000553455	G3V5N1
ENSG00000054654	ENST00000553801	A0A1W2PS37
ENSG00000054654	ENST00000554584	G3V5X4
ENSG00000054654	ENST00000555002	A0A0C4DGK3
ENSG00000054654	ENST00000555241	A0A1W2PRN9
ENSG00000054654	ENST00000555612	G3V4T3
ENSG00000054654	ENST00000557084	G3V2Q0

Expression (GTEx)

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

Pathway	Source	External ID
Cell Cycle	REACTOME	R-HSA-1640170
Meiosis	REACTOME	R-HSA-1500620
Meiotic synapsis	REACTOME	R-HSA-1221632

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17761684	2007	Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.	201
16079285	2005	The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope.	171
22632968	2012	LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins.	154
15671068	2005	Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.	105
18827015	2008	TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.	87
15843432	2005	Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope.	79
18477613	2008	Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin.	67
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
25516977	2015	Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.	53
22768332	2012	Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.	52

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/syne2