SYNE4 Chromosome 19

Spectrin repeat containing nuclear envelope family member 4

52 variants 52 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Spectrin repeat containing nuclear envelope family|KASH domain containing"

Locus Type

gene with protein product

Location

19q13.12

Ensembl

ENSG00000181392

Associated Conditions (7)

SYNE4-related disorder

Familial cancer of breast

Nonsyndromic genetic hearing loss

Autosomal recessive nonsyndromic hearing loss 76

Monogenic hearing loss

Ovarian serous cystadenocarcinoma

Rare genetic deafness

Key Variants

RS137899688

Conflicting classifications of pathogenicity

Health Risk

RS141202530

Conflicting classifications of pathogenicity

Health Risk

RS145204031

Conflicting classifications of pathogenicity

Health Risk

RS149158221

Conflicting classifications of pathogenicity

Health Risk

RS149470089

Conflicting classifications of pathogenicity

Health Risk

RS150043310

Conflicting classifications of pathogenicity

Health Risk

RS182159084

Conflicting classifications of pathogenicity

Health Risk

RS199619260

Conflicting classifications of pathogenicity

Health Risk

RS199853331

Conflicting classifications of pathogenicity

Health Risk

RS199916743

Conflicting classifications of pathogenicity

Health Risk

RS199938988

Conflicting classifications of pathogenicity

Health Risk

RS200484521

Conflicting classifications of pathogenicity

Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76, SYNE4-related disorder

Health Risk

All Variants (52)

RSID	Category	Clinical Significance	Conditions
RS137899688	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, SYNE4-related disorder
RS141202530	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, Familial cancer of breast, SYNE4-related disorder
RS145204031	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, SYNE4-related disorder
RS149158221	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, SYNE4-related disorder
RS149470089	Health Risk	Conflicting classifications of pathogenicity	—
RS150043310	Health Risk	Conflicting classifications of pathogenicity	—
RS182159084	Health Risk	Conflicting classifications of pathogenicity	—
RS199619260	Health Risk	Conflicting classifications of pathogenicity	—
RS199853331	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, SYNE4-related disorder
RS199916743	Health Risk	Conflicting classifications of pathogenicity	SYNE4-related disorder, SYNE4-related disorder
RS199938988	Health Risk	Conflicting classifications of pathogenicity	—
RS200484521	Health Risk	Conflicting classifications of pathogenicity	Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76, SYNE4-related disorder
RS200948076	Health Risk	Conflicting classifications of pathogenicity	—
RS200994810	Health Risk	Conflicting classifications of pathogenicity	—
RS369269989	Health Risk	Conflicting classifications of pathogenicity	—
RS760007740	Health Risk	Conflicting classifications of pathogenicity	—
RS771897813	Health Risk	Conflicting classifications of pathogenicity	—
RS774276326	Health Risk	Conflicting classifications of pathogenicity	—
RS1976865905	Health Risk	Likely pathogenic	—
RS2514026839	Health Risk	Likely pathogenic	Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2514032024	Health Risk	Likely pathogenic	—
RS2514032584	Health Risk	Likely pathogenic	—
RS2514038071	Health Risk	Likely pathogenic	Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76, Nonsyndromic genetic hearing loss
RS2514041516	Health Risk	Likely pathogenic	Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76, Nonsyndromic genetic hearing loss
RS748326281	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Ovarian serous cystadenocarcinoma, Autosomal recessive nonsyndromic hearing loss 76
RS1216088309	Health Risk	Pathogenic	—
RS1555785625	Health Risk	Pathogenic	—
RS1976853079	Health Risk	Pathogenic	—
RS2514037668	Health Risk	Pathogenic	—
RS2514037904	Health Risk	Pathogenic	—
RS2514039620	Health Risk	Pathogenic	—
RS2514040069	Health Risk	Pathogenic	—
RS2514041357	Health Risk	Pathogenic	—
RS2514048836	Health Risk	Pathogenic	—
RS2514049229	Health Risk	Pathogenic	—
RS2514052002	Health Risk	Pathogenic	—
RS368669131	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS371078173	Health Risk	Pathogenic	—
RS373270664	Health Risk	Pathogenic	—
RS587777072	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS757248672	Health Risk	Pathogenic	—
RS764476302	Health Risk	Pathogenic	—
RS766580479	Health Risk	Pathogenic	Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS924796934	Health Risk	Pathogenic	—
RS1490464311	Health Risk	Pathogenic/Likely pathogenic	—
RS2145346614	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS2514051953	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS750797779	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 76, Rare genetic deafness
RS754343113	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS758800042	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76

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