SYNE2 - spectrin repeat containing nuclear envelope protein 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23224

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	References	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	References	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	References	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
6885 a.a.

Protein Preferred Names	Protein Names
nesprin-2	KASH domain-containing protein 2

SYNE2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	SYNE2	NCBI