Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84888
Gene name Gene Name - the full gene name approved by the HGNC.
Signal peptide peptidase like 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPPL2A
Synonyms (NCBI Gene) Gene synonyms aliases
IMD86, IMP3, PSL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD86
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.2
Summary Summary of gene provided in NCBI Entrez 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 (SP
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 17965014, 25416956, 32296183, 32814053
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IBA 21873635
GO:0005770 Component Late endosome IDA 16829952
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608238 30227 ENSG00000138600
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24162737
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 86 GenCC
Acne Acne GWAS
Eosinophilia Eosinophilia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33152005
Arthritis Rheumatoid Associate 18369459
Autoimmune Diseases Associate 18369459, 25035924, 33152005
Celiac Disease Associate 18369459
Diabetes Mellitus Type 1 Associate 18369459
Frontotemporal Dementia Associate 33152005
Fused Kidney Associate 18369459
Graves Disease Associate 18369459
Growth Factors Combined Defect of Stimulate 39586751
Inflammation Associate 32198923