SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 161176

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IMP IMP: Inferred from mutant phenotype	22518138	GOA
enables cytoskeleton-nuclear membrane anchor activity	IDA IDA: Inferred from direct assay	18396275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18396275	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21937718	GOA
involved in establishment of protein localization to membrane	IDA IDA: Inferred from direct assay	22518138	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21937718	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of meiotic nuclear membrane microtubule tethering complex	IDA IDA: Inferred from direct assay	18396275	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	21937718	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

SYNE3 Protein Structure

Spectrin

KASH

0
200
400
600
800
975 a.a.

Protein Preferred Names	Protein Names
nesprin-3	KASH domain-containing protein 3

SYNE3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81626	Nesprin3 Antibody (YA1371)	WB	Human
HY-P81626A	Nesprin3 Antibody (YA1371)(PBS only)	WB	Human

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14087	SYNE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SYNE3	NCBI