Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
121665
Gene name Gene Name - the full gene name approved by the HGNC.
Signal peptide peptidase like 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPPL3
Synonyms (NCBI Gene) Gene synonyms aliases
IMP2, MDHV1887, PRO4332, PSH1, PSL4
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT698906 hsa-miR-6768-5p HITS-CLIP 23313552
MIRT698905 hsa-miR-624-5p HITS-CLIP 23313552
MIRT698904 hsa-miR-4682 HITS-CLIP 23313552
MIRT698903 hsa-miR-1911-5p HITS-CLIP 23313552
MIRT698902 hsa-miR-4303 HITS-CLIP 23313552
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 2313285
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005791 Component Rough endoplasmic reticulum IDA 15998642
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608240 30424 ENSG00000157837
Protein
UniProt ID Q8TCT6
Protein name Signal peptide peptidase-like 3 (SPP-like 3) (EC 3.4.23.-) (Intramembrane protease 2) (IMP-2) (Presenilin homologous protein 1) (PSH1) (Presenilin-like protein 4)
Protein function Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediatin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04258 Peptidase_A22B 60 374 Signal peptide peptidase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:15385547). Expressed in the brain (PubMed:11978763). {ECO:0000269|PubMed:11978763, ECO:0000269|PubMed:15385547}.
Sequence
Sequence length 384
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Asthma N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes mellitus or coronary artery disease (pleiotropy) N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glioma Associate 33271119