SPPL2A signal peptide peptidase like 2A
Gene ID: 84888, updated on 28-Oct-2024Gene type: protein coding
Also known as: IMP3; PSL2; IMD86
- See all available tests in GTR for this gene
- Go to complete Gene record for SPPL2A
- Go to Variation Viewer for SPPL2A variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Immunodeficiency 86 | not available |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.2
- Sequence:
- Chromosome: 15; NC_000015.10 (50702266..50765706, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPPL2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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