SYNE1 - spectrin repeat containing nuclear envelope protein 1 Gene

Homo sapiens

Also known as 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2

Gene ID: 23345 | Gene type: protein coding

About SYNE1

Cytogenetic location: 6q25.2 Genomic coordinates (GRCh38): 6:152,121,687-152,637,362 (from NCBI)

This gene has 51 transcripts (splice variants), 254 orthologues, 36 paralogues and is associated with 7 phenotypes. Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues.

Summary

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE1 Products(4)

mRNA	Protein	Name
NM_001347701.2	NP_001334630.1	nesprin-1 isoform 3
NM_001347702.2	NP_001334631.1	nesprin-1 isoform 4 (nesprin-1 alpha 2)
NM_033071.5	NP_149062.2	nesprin-1 isoform 2
NM_182961.4	NP_892006.3	nesprin-1 isoform 1 (nesprin-1 giant or enaptin)

SYNE1 Protein Structure

Spectrin

KASH

0
1400
2800
4200
5600
7000
8400
8797 a.a.

Protein Preferred Names

Protein Names

nesprin-1

CPG2 full length

Related Diseases

Diseases

Alias

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

Arthrogryposis Multiplex Congenita 3, Myogenic Type

Arthrogryposis Multiplex Congenita, Myogenic Type	AMC3
Amcm	Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Autosomal Recessive Myogenic Amc	Syne1-Related Amc
Syne1-Related Arthrogryposis Multiplex Congenita

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 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

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

Spastic Ataxia

Spax	Ataxia, Spastic

Autosomal Recessive Cerebellar Ataxia

Arca

Arthrogryposis Multiplex Congenita-3

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]

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

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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

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

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

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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

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

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

Colon Adenocarcinoma

Adenocarcinoma Of Colon	Adenocarcinoma Of The Colon
Colonic Adenocarcinoma

Axonal Neuropathy

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

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

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

DSMA4	Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
Distal Spinal Muscular Atrophy Type 4	Autosomal Recessive Distal Spinal Muscular Atrophy Type 4
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4	Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Spinocerebellar Ataxia, Autosomal Recessive 14

Autosomal Recessive Spinocerebellar Ataxia 14	SCAR14
Sparca1	Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
Autosomal Recessive Spinocerebellar Ataxia Type 14	Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
Sparca	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
Spinocerebellar Ataxia, Autosomal Recessive, 14	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

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

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Pelger-Huet Anomaly

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

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1	Ataxia-Telangiectasia-Like Disorder
EAOH	Eoca-Ha
Ataxia With Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia 1
Ataxia-Oculomotor Apraxia Syndrome	AOA
Ataxia-Telangiectasia-Like Syndrome	Ataxia-Oculomotor Apraxia Type 1
Ataxia With Oculomotor Apraxia	Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia	Early-Onset Cerebellar Ataxia With Hypoalbuminemia
Adult Onset Ataxia With Oculomotor Apraxia	Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
Scan2	Scar1
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Atld	Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar Ataxia Early-Onset With Hypoalbuminemia	Ataxia-Oculomotor Apraxia
Spinocerebellar Ataxia, Autosomal Recessive 1

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Myopathy

Muscular Diseases

Myopathies

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

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-RS14085	SYNE1 Human Pre-designed siRNA Set A		/	Unkown