Gene Gene information from NCBI Gene database.
Entrez ID 121665
Gene name Signal peptide peptidase like 3
Gene symbol SPPL3
Synonyms (NCBI Gene)
IMP2MDHV1887PRO4332PSH1PSL4
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
567
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608240 30424 ENSG00000157837
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 23421499
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 30013184
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31261900
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26416451
★☆☆☆☆
Found in Text Mining only
Carcinoma, Endometrioid Endometrioid cancer BEFREE 26889980
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 24872956
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 31555647
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 23421499
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 19429674
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 30718926
★☆☆☆☆
Found in Text Mining only