SYNE4 - spectrin repeat containing nuclear envelope family member 4 Gene

Homo sapiens

Also known as KASH4; Nesp4; DFNB76; C19orf46

Gene ID: 163183 | Gene type: protein coding

About SYNE4

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,003,307-36,008,813 (from NCBI)

This gene has 7 transcripts (splice variants), 92 orthologues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 6.3), thyroid (RPKM 3.5) and 15 other tissues.

Summary

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and Cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the Cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

SYNE4 Products(2)

mRNA	Protein	Name
NM_001039876.3	NP_001034965.1	nesprin-4 isoform 1
NM_001297735.3	NP_001284664.1	nesprin-4 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	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

SYNE4 Protein Structure

KASH

0
100
200
300
404 a.a.

Protein Preferred Names

Protein Names

nesprin-4

KASH domain-containing protein 4

SYNE4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SYNE4	Q8N205	ADIPOQ	Homo sapiens	A8K660	Validated Y2H	25416956
Intra	SYNE4	Q8N205	ADIPOQ	Homo sapiens	A8K660	Y2H Array	25416956
Intra	SYNE4	Q8N205	ZNF250	Homo sapiens	P15622-3	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ZNF250	Homo sapiens	P15622-3	Y2H Array	25416956
Intra	SYNE4	Q8N205	SLN	Homo sapiens	O00631	Y2H Array	25416956
Intra	SYNE4	Q8N205	ENTPD3	Homo sapiens	O75355	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SFTPC	Homo sapiens	P11686	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CLDN8	Homo sapiens	P56748	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CLDN8	Homo sapiens	P56748	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TTMP	Homo sapiens	Q5BVD1	Y2H Array	25416956
Intra	SYNE4	Q8N205	TTMP	Homo sapiens	Q5BVD1	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	DEFB121	Homo sapiens	Q5J5C9	Validated Y2H	25416956
Intra	SYNE4	Q8N205	DEFB121	Homo sapiens	Q5J5C9	Y2H Array	25416956
Intra	SYNE4	Q8N205	RIPPLY2	Homo sapiens	Q5TAB7	Y2H Array	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Y2H Array	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM182	Homo sapiens	Q6ZP80	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMEM182	Homo sapiens	Q6ZP80	Y2H Array	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Y2H Array	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Anti Tag CoIP	33961781
Intra	SYNE4	Q8N205	OSTCL	Homo sapiens	Q8TBU1	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMPRSS4	Homo sapiens	Q9NRS4-3	Y2H Array	25416956
Intra	SYNE4	Q8N205	TMEM248	Homo sapiens	Q9NWD8	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SUN2	Homo sapiens	Q9UH99	Pull Down	33058875
Intra	SYNE4	Q8N205	CD47	Homo sapiens	Q08722	Y2H Array	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Y2H Array	25416956
Intra	SYNE4	Q8N205	FAM241B	Homo sapiens	Q96D05	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ABT1	Homo sapiens	Q9ULW3	Y2H Array	25416956
Intra	SYNE4	Q8N205	OLFM4	Homo sapiens	Q6UX06	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM140	Homo sapiens	Q9NV12	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMEM140	Homo sapiens	Q9NV12	Y2H Array	25416956
Intra	SYNE4	Q8N205	ITM2B	Homo sapiens	Q9Y287	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	OCLN	Homo sapiens	Q16625	Anti Tag CoIP	33961781
Intra	SYNE4	Q8N205	OCLN	Homo sapiens	Q16625	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM147	Homo sapiens	Q9BVK8	Y2H Array	25416956
Intra	SYNE4	Q8N205	KTN1	Homo sapiens	Q86UP2	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KTN1	Homo sapiens	Q86UP2	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ECE2	Homo sapiens	P0DPD8	Validated Y2H	25416956
Intra	SYNE4	Q8N205	ECE2	Homo sapiens	P0DPD8	Y2H Array	25416956
Intra	SYNE4	Q8N205	CXCL9	Homo sapiens	Q07325	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CXCL9	Homo sapiens	Q07325	Y2H Array	25416956
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Y2H	21516116
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Validated Y2H	25416956
Intra	SYNE4	Q8N205	EMP1	Homo sapiens	P54849	Validated Y2H	25416956
Intra	SYNE4	Q8N205	SENP2	Homo sapiens	Q9HC62	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SENP2	Homo sapiens	Q9HC62	Validated Y2H	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Array	31515488
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Validated Y2H	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Array	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Y2H Array	25416956
Intra	SYNE4	Q8N205	CLDN7	Homo sapiens	O95471	Y2H Array	25416956
Intra	SYNE4	Q8N205	KLHL12	Homo sapiens	Q53G59	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KLHL12	Homo sapiens	Q53G59	Y2H Array	25416956
Intra	SYNE4	Q8N205	SEC23B	Homo sapiens	Q15437	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SEC23B	Homo sapiens	Q15437	Y2H Array	25416956
Intra	SYNE4	Q8N205	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Y2H Array	25416956
Intra	SYNE4	Q8N205	MALL	Homo sapiens	Q13021	Validated Y2H	25416956
Intra	SYNE4	Q8N205	MALL	Homo sapiens	Q13021	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	KLRG1	Homo sapiens	Q96E93	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KLRG1	Homo sapiens	Q96E93	Y2H Array	25416956
Intra	SYNE4	Q8N205	TMEM115	Homo sapiens	Q12893	Y2H Array	25416956
Intra	SYNE4	Q8N205	SMCO4	Homo sapiens	Q9NRQ5	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	25416956
Intra	SYNE4	Q8N205	SEC22A	Homo sapiens	Q96IW7	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	KLC4	Homo sapiens	Q9NSK0	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 76

DFNB76	Autosomal Recessive Nonsyndromic Deafness 76
Autosomal Recessive Deafness 76	Deafness, Autosomal Recessive, 76
Deafness, Autosomal Recessive, Type 76

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

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

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 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

Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone

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 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

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-RS14088	SYNE4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SYNE4	VGNC	VGNC:52255
Rattus norvegicus	SYNE4	RGD	RGD:1304580
Macaca mulatta	SYNE4	VGNC	VGNC:78221
Mus musculus	SYNE4	MGD	MGI:2141950
Canis familiaris	SYNE4	VGNC	VGNC:47030

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