Tmem216 Gene Summary [Mouse]

This gene encodes a transmembrane protein which is involved in regulation of signaling and trafficking of associated proteins. In humans, mutations in this gene are associated with ciliopathies including Joubert, Meckel and related syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]

Details

Type
Nonsense Mediated Decay
Official Symbol
Tmem216
Official Name
transmembrane protein 216 [Source:MGI Symbol;Acc:MGI:1920020]
Ensembl ID
ENSMUSG00000024667
Bio databases IDs NCBI: 68642 Ensembl: ENSMUSG00000024667
Aliases transmembrane protein 216
Synonyms 1110017C22Rik, 2810441K11Rik, 4921533J23Rik, A930021F15Rik, HSPC244, RGD1304607, RP98, transmembrane protein 216
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Tmem216 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Predicted membrane protein
  • 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
  • TMEM216-related disorder
  • Joubert syndrome type 1
  • joubert syndrome type 2
  • Meckel syndrome type 2
  • ciliopathy
  • hereditary disorder
  • retinitis pigmentosa
role in cell
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • ciliary transition zone
  • cilia
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Tmem216 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cilium morphogenesis

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • membrane
  • cilium
  • cytosol
  • ciliary transition zone
  • TCTN-B9D complex

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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