Spectrin Repeat-Containing Nuclear Envelope Protein 2

Alternative Names

SYNE2
Synaptic Nuclear Envelope Protein 2
Nuclear Envelope Spectrin Repeat Protein
NESPRIN 2
Nucleus and Actin Connecting Element
NUANCE
KIAA1011

Length

464,551 bases

No. of Exons

123

No. of isoforms

Protein Name

Nesprin-2

Molecular Mass

796442 Da

Amino Acid Count

6885

Genomic Location

(GRCh38/hg38)

Gene Map Locus

14q23.2

Description

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_015180.5:c.19372G>A	Lebanon	chr14:64216286		Likely Pathogenic	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	NG_011756.1:g.368322G>A; NM_015180.5:c.19372G>A; NP_055995.4:p.Asp6458Asn	202052357

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNE2 https://www.ncbi.nlm.nih.gov/gene/23224

Contributors

Pratibha Nair: 02.11.2020

Edit History

Pratibha Nair: 02.11.2020

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