SMPDL3B (sphingomyelin phosphodiesterase acid like 3B)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27293 |
| Gene name | Sphingomyelin phosphodiesterase acid like 3B |
| Gene symbol | SMPDL3B |
| Synonyms (NCBI Gene) |
ASML3B
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| Chromosome | 1 |
| Chromosome location | 1p35.3 |
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miRNA
miRNA information provided by mirtarbase database.
68
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q92485 | ||||||||||
| Protein name | Acid sphingomyelinase-like phosphodiesterase 3b (ASM-like phosphodiesterase 3b) (EC 3.1.4.-) | ||||||||||
| Protein function | Lipid-modulating phosphodiesterase (PubMed:26095358). Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signali | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 455 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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