SYNE4

Chr 19q13.12

spectrin repeat containing nuclear envelope family member 4

Aliases:: FLJ36445, Nesprin-4, Nesp4
MANE:: ENST00000324444.9

OMIM: 615535 ↗NCBI: 163183 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SYNE4 · Q8N205

v62025-08-01

Predicted Aligned Error matrix for SYNE4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.2/ 100

Low

404 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)16%
Low(50–70)17%
Very low(< 50)54%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.66
deafness
0.62
nonsyndromic genetic hearing loss
0.54
Rare genetic deafness
0.27
Non-syndromic genetic deafness
0.20
autosomal dominant nonsyndromic hearing loss
0.07
Usher syndrome
0.06
Usher syndrome type 1
0.05
hearing loss, autosomal dominant 87
0.05
X-linked nonsyndromic hearing loss
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nesprin-4

As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity)