2. Gene
  3. SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as KASH3; NET53; Nesp3; C14orf49; C14orf139; LINC00341; NCRNA00341

Gene ID: 161176 | Gene type: protein coding

About SYNE3

Cytogenetic location: 14q32.13 Genomic coordinates (GRCh38): 14:95,407,266-95,516,650 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and 36 paralogues. Ubiquitous expression in fat (RPKM 4.3), bone marrow (RPKM 3.9) and 24 other tissues.

Summary

Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in Cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]

SYNE3 Products(6)

mRNA Protein Name
NM_001363692.2 NP_001350621.1 nesprin-3 isoform 2
NM_001384281.1 NP_001371210.1 nesprin-3 isoform 3
NM_001384282.1 NP_001371211.1 nesprin-3 isoform 3
NM_001384283.1 NP_001371212.1 nesprin-3 isoform 4
NM_001384284.1 NP_001371213.1 nesprin-3 isoform 5
NM_152592.6 NP_689805.3 nesprin-3 isoform 1

SYNE3 Protein Structure

Spectrin

Spectrin: Spectrin repeat (652 - 743)

KASH

KASH: Nuclear envelope localisation domain (920 - 975)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 975 a.a.
Protein Preferred Names Protein Names

nesprin-3

KASH domain-containing protein 3

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
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
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]
Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome
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
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
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
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
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-RS14087 SYNE3 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SYNE3 VGNC VGNC:78176
Rattus norvegicus SYNE3 RGD RGD:1304563
Canis familiaris SYNE3 VGNC VGNC:47029
Bos taurus SYNE3 VGNC VGNC:35522
Mus musculus SYNE3 MGD MGI:2442408
Felis catus SYNE3 VGNC VGNC:65883