Seroatlas · Human Serome Atlas

SPPL2A

Signal peptide peptidase-like 2A

Also known as: IMP3, PSL2, SPP2A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TCT8
Gene: SPPL2A
Ensembl: ENSG00000138600
Chromosome: 15
Canonical length: 520 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

520 residues, UniProt reviewed canonical sequence.

>Q8TCT8|SPPL2A
     1  MGPQRRLSPA GAALLWGFLL QLTAAQEAIL HASGNGTTKD YCMLYNPYWT ALPSTLENAT
    61  SISLMNLTST PLCNLSDIPP VGIKSKAVVV PWGSCHFLEK ARIAQKGGAE AMLVVNNSVL
   121  FPPSGNRSEF PDVKILIAFI SYKDFRDMNQ TLGDNITVKM YSPSWPNFDY TMVVIFVIAV
   181  FTVALGGYWS GLVELENLKA VTTEDREMRK KKEEYLTFSP LTVVIFVVIC CVMMVLLYFF
   241  YKWLVYVMIA IFCIASAMSL YNCLAALIHK IPYGQCTIAC RGKNMEVRLI FLSGLCIAVA
   301  VVWAVFRNED RWAWILQDIL GIAFCLNLIK TLKLPNFKSC VILLGLLLLY DVFFVFITPF
   361  ITKNGESIMV ELAAGPFGNN EKLPVVIRVP KLIYFSVMSV CLMPVSILGF GDIIVPGLLI
   421  AYCRRFDVQT GSSYIYYVSS TVAYAIGMIL TFVVLVLMKK GQPALLYLVP CTLITASVVA
   481  WRRKEMKKFW KGNSYQMMDH LDCATNEENP VISGEQIVQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPPL2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 9
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 131 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 131 nTPM
skeletal muscle: 99 nTPM
liver: 91 nTPM
colon: 77 nTPM
tongue: 72 nTPM
rectum: 66 nTPM

Single-cell type

thymic myoid cells: 789 nCPM
myonuclei: 740 nCPM
neutrophils: 414 nCPM
distal convoluted tubule cells: 293 nCPM
syncytiotrophoblasts: 285 nCPM
neutrophil progenitors: 272 nCPM

Immune cell

non-classical monocyte: 51 nTPM
classical monocyte: 47 nTPM
total PBMC: 45 nTPM
eosinophil: 43 nTPM
intermediate monocyte: 43 nTPM
basophil: 40 nTPM

Brain region

choroid plexus: 92 nTPM
medulla oblongata: 31 nTPM
white matter: 28 nTPM
thalamus: 27 nTPM
midbrain: 27 nTPM
hypothalamus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPPL2A.

Disease | AllUniProt

Conditions SPPL2A is implicated in, by any mechanism.

Immunodeficiency 86 (IMD86) MIM:619549

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 425 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Immunodeficiency 86

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.53
gnomAD pLI: 0.03
gnomAD missense Z: 0.93
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SPPL2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ITM2B

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPPL2A as an antibody target. Whether an autoantibody or antibody against SPPL2A could matter depends on whether native SPPL2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPPL2A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SPPL2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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