Gene

TMEM165

Species
Homo sapiens
Symbol
TMEM165
Name
transmembrane protein 165
Synonyms
  • CDG2K
  • FT27
Biotype
protein coding gene
Automated Description
Predicted to enable calcium ion transmembrane transporter activity and manganese ion transmembrane transporter activity. Involved in intracellular monoatomic cation homeostasis; metal ion transport; and protein N-linked glycosylation. Located in endosome membrane; lysosomal membrane; and trans-Golgi network membrane. Implicated in congenital disorder of glycosylation type IIk.
RGD Description
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12608
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
55.40M55.41M55.42M55.43M55.44M55.45M

Sequence Details

Loading...

Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions