SYNE3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SYNE3
Official Name
spectrin repeat containing nuclear envelope family member 3 [Source:HGNC Symbol;Acc:HGNC:19861]
Ensembl ID
ENSG00000176438
Bio databases IDs NCBI: 161176 Ensembl: ENSG00000176438
Aliases spectrin repeat containing nuclear envelope family member 3
Synonyms C14orf139, C14orf49, KASH3, LINC00341, LOC105370641, NCRNA00341, Nesp3, nesprin-3, NET53, RGD1304563, spectrin repeat containing nuclear envelope family member 3, spectrin repeat containing, nuclear envelope family member 3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SYNE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SPEC
  • actin filament binding
  • RecF/RecN/SMC N terminal domain
  • chromosome segregation protein SMC, primarily archaeal type
  • protein binding activity, bridging
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Waldenström macroglobulinemia
  • open-angle glaucoma
regulated by
regulates
role in cell
  • organization
  • migration
  • polarization
  • compartmentalized pressure

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • outer nuclear membrane
  • nuclear envelope

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SYNE3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • cytoskeleton organization
  • nuclear migration
  • establishment of protein localization in membrane

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope
  • nuclear membrane
  • cytoplasm
  • membrane
  • rough endoplasmic reticulum
  • nuclear outer membrane
  • SUN-KASH complex

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.