Gene Information
|
Gene Name
|
SYNE4 |
|
Gene ID
|
163183
|
|
Gene Full Name
|
spectrin repeat containing nuclear envelope family member 4 |
|
Gene Alias
|
C19orf46|DFNB76|KASH4|Nesp4 |
|
Transcripts
|
ENSG00000181392
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
Q8N205
|
|
HGNC ID
|
HGNC:26703
|
|
OMIM ID
|
615535 |
|
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] |
Target gene [SYNE4] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6026037 |
chr19 |
1 |
1 |
0 |
2 |
View |
Target gene [SYNE4] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - SYNE4 peak across samples
|
Peak Plot
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