Gene

SPPL2A

Species
Homo sapiens
Symbol
SPPL2A
Name
signal peptide peptidase like 2A
Synonyms
  • IMD86
  • IMP-3
Biotype
protein coding gene
Automated Description
Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; and regulation of immune response. Located in cytoplasmic vesicle; endoplasmic reticulum membrane; and plasma membrane. Implicated in primary immunodeficiency disease.
RGD Description
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12174
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
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50.71M50.72M50.73M50.74M50.75M50.76M

Sequence Details

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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