Gene Gene information from NCBI Gene database.
Entrez ID 84888
Gene name Signal peptide peptidase like 2A
Gene symbol SPPL2A
Synonyms (NCBI Gene)
IMD86IMP3PSL2
Chromosome 15
Chromosome location 15q21.2
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 (SP
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT398430 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT707563 hsa-miR-5000-5p HITS-CLIP 21572407
MIRT510709 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT510708 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT707562 hsa-miR-5007-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 17965014, 25416956, 32296183, 32814053
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IBA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608238 30227 ENSG00000138600
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCT8
Protein name Signal peptide peptidase-like 2A (SPP-like 2A) (SPPL2a) (EC 3.4.23.-) (Intramembrane protease 3) (IMP-3) (Presenilin-like protein 2)
Protein function Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829951, PubMed:16829952, PubMed:17557115, PubMed:179
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02225 PA 52 148 PA domain Family
PF04258 Peptidase_A22B 210 496 Signal peptide peptidase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15385547}.
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of TNFR1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 86 Pathogenic rs1328617979, rs2141024987 RCV001728165
RCV001728166
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 33152005
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid Associate 18369459
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 18369459, 25035924, 33152005
★☆☆☆☆
Found in Text Mining only
Celiac Disease Associate 18369459
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Associate 18369459
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Associate 33152005
★☆☆☆☆
Found in Text Mining only
Fused Kidney Associate 18369459
★☆☆☆☆
Found in Text Mining only
Graves Disease Associate 18369459
★☆☆☆☆
Found in Text Mining only
Growth Factors Combined Defect of Stimulate 39586751
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 32198923
★☆☆☆☆
Found in Text Mining only