SYNE2 - spectrin repeat containing nuclear envelope protein 2 Gene

Homo sapiens

Also known as NUA; EDMD5; KASH2; Nesp2; TROPH; NUANCE; SYNE-2; Nesprin-2

Gene ID: 23224 | Gene type: protein coding

About SYNE2

Cytogenetic location: 14q23.2 Genomic coordinates (GRCh38): 14:63,761,596-64,226,449 (from NCBI)

This gene has 30 transcripts (splice variants), 306 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 13.7), kidney (RPKM 12.6) and 25 other tissues.

Summary

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. [provided by RefSeq, Mar 2009]

SYNE2 Products(4)

mRNA	Protein	Name
NM_015180.6	NP_055995.4	nesprin-2 isoform 1
NM_182910.2	NP_878914.1	nesprin-2 isoform 2
NM_182913.4	NP_878917.1	nesprin-2 isoform 4
NM_182914.3	NP_878918.2	nesprin-2 isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cytoskeleton-nuclear membrane anchor activity	IDA IDA: Inferred from direct assay	18396275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15671068	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in centrosome localization	IMP IMP: Inferred from mutant phenotype	20724637	GOA
involved in nuclear migration	IMP IMP: Inferred from mutant phenotype	20724637	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Z disc	IDA IDA: Inferred from direct assay	15671068	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12118075	GOA
located in filopodium membrane	IDA IDA: Inferred from direct assay	15671068	GOA
located in focal adhesion	IDA IDA: Inferred from direct assay	15671068	GOA
located in lamellipodium membrane	IDA IDA: Inferred from direct assay	15671068	GOA
part of meiotic nuclear membrane microtubule tethering complex	IDA IDA: Inferred from direct assay	18396275	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15671068	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	15671068	GOA
located in nuclear lumen	IDA IDA: Inferred from direct assay	15671068	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12118075	GOA
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	15671068	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SYNE2 Protein Structure

Spectrin

KASH

0
1100
2200
3300
4400
5500
6600
6885 a.a.

Protein Preferred Names

Protein Names

nesprin-2

KASH domain-containing protein 2

SYNE2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SYNE2	Q8WXH0	SUN2	Homo sapiens	Q9UH99	X-Ray Diffraction	22632968
Intra	SYNE2	Q8WXH0	SUN2	Homo sapiens	Q9UH99	Pull Down	22632968
Intra	SYNE2	Q8WXH0	SUN2	Homo sapiens	Q9UH99	Pull Down	33058875
Intra	SYNE2	Q8WXH0	SUN2	Homo sapiens	Q9UH99	Confocal	22555292
Intra	SYNE2	Q8WXH0	APPL1	Homo sapiens	Q9UKG1	Y2H Fragment Pooling	23414517
Intra	SYNE2	Q8WXH0	APPL1	Homo sapiens	Q9UKG1	PLA	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

EDMD5	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5
Emd5	Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Emd2	Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
Scapuloilioperoneal Atrophy With Cardiopathy	Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
Hauptmann-Thannhauser Muscular Dystrophy	Cardiomyopathy, Dilated, With Quadriceps Myopathy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly	Lgmd1b, Formerly
Muscular Dystrophy, Proximal, Type 1b, Formerly	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Lgmd1b	Limb-Girdle Muscular Dystrophy 1b
Muscular Dystrophy, Proximal, Type 1b	Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Emery-Dreifuss Muscular Dystrophy

Edmd	Emery-Dreifuss Syndrome
Muscular Dystrophy, Emery-Dreifuss	Humeroperoneal Neuromuscular Disease
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	Scapuloperoneal Syndrome, X-Linked
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures	Muscular Dystrophy, Emery-Dreifuss Type
Muscular Dystrophy Emery-Dreifuss	Dystrophy, Muscular, Emery-Dreifuss
Emd - [Emery-Dreifuss Muscular Dystrophy]

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

EDMD7	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7
Emery-Dreifuss Muscular Dystrophy 7, Ad	Emd7
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3	Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive	Emery-Dreifuss Muscular Dystrophy 3

Arthrogryposis Multiplex Congenita-3

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4	Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4	Emd4
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant	Emery-Dreifuss Muscular Dystrophy 4

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1	Emd1
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	X-Linked Emery-Dreifuss Muscular Dystrophy 1
Humeroperoneal Neuromuscular Disease	X-Linked Emery-Dreifuss Muscular Dystrophy
Scapuloperoneal Syndrome, X-Linked, Formerly	Humeroperoneal Neuromuscular Disease, Formerly
Scapuloperoneal Syndrome, X-Linked	Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
Scapuloperoneal Syndrome X-Linked	X-Edmd
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked	XMPMA
X-Linked Myopathy With Postural Muscle Atrophy	X-Linked Emery-Dreifuss Muscular Dystrophy 6
EDMD6	Emd6

Spastic Ataxia

Spax	Ataxia, Spastic

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Ciliary Dyskinesia, Primary, 7

Primary Ciliary Dyskinesia 7	CILD7
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 7 With Or Without Situs Inversus
Ics7	Immotile Cilia Syndrome 7
Dyskinesia, Ciliary, Primary, 7

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1	Charcot-Marie-Tooth Disease, Type 2b1
CMT2B1	Autosomal Recessive Axonal Cmt4c1
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1	Charcot-Marie-Tooth Disease Neuronal Type 2b1
Charcot-Marie-Tooth Neuropathy Type 2b1	Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1	Charcot-Marie-Tooth Neuropathy, Type 2b1
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1	Ar-Cmt2b1
Charcot-Marie-Tooth Disease 2b1	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
Charcot-Marie-Tooth Disease Axonal Type 2b1

Buschke-Ollendorff Syndrome

BOS	Dermatoosteopoikilosis
Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis	Osteopathia Condensans Disseminata
Dermatofibrosis Lenticularis Disseminata	Disseminated Dermatofibrosis With Osteopoikilosis
Dermatofibrosis, Disseminated, With Osteopoikilosis	Osteopoikilosis With Or Without Melorheostosis
Dermatofibrosis, Disseminated With Osteopoikilosis	Dermatofibrosis Disseminata Lenticularis
Isolated Osteopoikilosis	Osteopoikilosis, Isolated

Axonal Neuropathy

Greenberg Dysplasia

Hem Dysplasia	Greenberg Skeletal Dysplasia
Hem Skeletal Dysplasia	GRBGD
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Moth-Eaten Skeletal Dysplasia
Chondrodystrophy, Hydropic And Prenatally Lethal Type	Hydrops-Ectopic Calcification-Motheaten Syndrome
Skeletal Dysplasia, Greenberg Type	Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia	Hem
Hem/Greenberg Dysplasia	Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Pelger-Huet Anomaly

PHA	Pelger-Huët Anomaly
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities	Pelger Huet Anomaly
Pelger-Huet Nuclear Anomaly

Osteopoikilosis

Osteopathia Condensans Disseminata	Spotted Bones
Dermatofibrosis Lenticularis Disseminata

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a	Cdcd1
CMD1A	Cardiomyopathy, Familial Idiopathic
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Cardiomyopathy, Dilated, With Conduction Defect 1
Cardiomyopathy, Idiopathic Dilated	Cardiomyopathy, Congestive
Dilated Cardiomyopathy With Conduction Defect 1	Cardiomyopathy Dilated With Conduction Defect Type 1
Cardiomyopathy, Dilated 1a	Cardiomyopathy Dilated With Conduction Defect 1
Cardiomyopathy, Dilated, Type 1a

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h	Dilated Cardiomyopathy With Conduction Defect
CMD1H	Cardiomyopathy, Dilated, With Conduction Defect

Myopathy

Muscular Diseases

Myopathies

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	HPS1
Delta Storage Pool Disease	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Hermansky-Pudlak Syndrome, Type 1	Platelet Storage Pool Deficiency

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14086	SYNE2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SYNE2	VGNC	VGNC:35521
Mus musculus	SYNE2	MGD	MGI:2449316
Canis familiaris	SYNE2	VGNC	VGNC:47028
Rattus norvegicus	SYNE2	RGD	RGD:1305248