SPPL2A

Signal peptide peptidase-like 2A, also known as SPPL2A, is a human gene.^[5]

SPPL2A
Identifiers
Aliases	SPPL2A, IMP3, PSL2, signal peptide peptidase like 2A, IMD86
External IDs	OMIM: 608238; MGI: 1913802; HomoloGene: 36411; GeneCards: SPPL2A; OMA:SPPL2A - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.2 Start 50,702,266 bp[1] End 50,765,709 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 126,890,391 bp[2] End 126,933,235 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum secondary oocyte tibialis anterior muscle Skeletal muscle tissue of biceps brachii vastus lateralis muscle Skeletal muscle tissue of rectus abdominis deltoid muscle cartilage tissue rectum mucosa of colon Top expressed in body of femur submandibular gland ascending aorta aortic valve calvaria stroma of bone marrow left lobe of liver knee joint mesenteric lymph nodes muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity aspartic-type endopeptidase activity peptidase activity protein binding hydrolase activity aspartic endopeptidase activity, intramembrane cleaving Cellular component integral component of membrane endosome late endosome membrane late endosome membrane intracellular membrane-bounded organelle integral component of cytoplasmic side of endoplasmic reticulum membrane lysosomal membrane Golgi-associated vesicle membrane lysosome integral component of lumenal side of endoplasmic reticulum membrane extracellular exosome plasma membrane Biological process membrane protein proteolysis proteolysis membrane protein ectodomain proteolysis membrane protein intracellular domain proteolysis regulation of immune response regulation of tumor necrosis factor-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84888 66552 Ensembl ENSG00000138600 ENSMUSG00000027366 UniProt Q8TCT8 Q9JJF9 RefSeq (mRNA) NM_032802 NM_023220 RefSeq (protein) NP_116191 NP_075709 Location (UCSC) Chr 15: 50.7 – 50.77 Mb Chr 2: 126.89 – 126.93 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is a member of the signal peptide peptidase-like protease (SPPL) family and encodes a lysosomal/late endosomal membrane protein^[6] with the conserved active site motifs 'YD' and 'GxGD' in adjacent transmembrane domains (TMDs). This protein plays a role in innate and adaptive immunity by cleaving TNFα in activated dendritic cells.^[7][8] A pseudogene of this gene also lies on chromosome 15.^[5]