Gene
Sppl2a
- Species
- Mus musculus
- Symbol
- Sppl2a
- Name
- signal peptide peptidase like 2A
- Synonyms
- 2010106G01Rik
- C130089K23Rik
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein proteolysis and regulation of immune response. Located in late endosome membrane and lysosomal membrane. Is expressed in genitourinary system; skeleton; and thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SPPL2A (signal peptide peptidase like 2A).
- MGI Description
- PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes. [provided by MGI curators]
- 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
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:126732311...126775155 - (42.84 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.