Gene Gene information from NCBI Gene database.
Entrez ID 27293
Gene name Sphingomyelin phosphodiesterase acid like 3B
Gene symbol SMPDL3B
Synonyms (NCBI Gene)
ASML3B
Chromosome 1
Chromosome location 1p35.3
miRNA miRNA information provided by mirtarbase database.
68
miRTarBase ID miRNA Experiments Reference
MIRT052379 hsa-let-7a-5p CLASH 23622248
MIRT528306 hsa-miR-1911-3p PAR-CLIP 20371350
MIRT528305 hsa-miR-6753-5p PAR-CLIP 20371350
MIRT528304 hsa-miR-100-5p PAR-CLIP 20371350
MIRT528303 hsa-miR-99a-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004767 Function Sphingomyelin phosphodiesterase activity IEA
GO:0005515 Function Protein binding IPI 31217420
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 16502470
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617737 21416 ENSG00000130768
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00149 Metallophos 21 281 Calcineurin-like phosphoesterase Domain
Sequence
MRLLAWLIFLANWGGARAEPGKFWHIADLHLDPDYKVSKDPFQVCPSAGSQPVPDAGPWG
DYLCDSPWALINSSIYAMKEIEPEPDFILWTGDDTPHVPDEKLGEAAVLEIVERLTKLIR
EVFPDTKVYAALGNHDFHPKNQFPAGSNNIYNQIAELWKPWLSNESIALFKKGAFYCEKL
PGPSGAGRIVVLNTNLYYTSNALTADMADPGQQFQWLEDVLTDASKAGDMVYIVGHVPPG
FFEKTQNKAWFREGFNEKYLKVVRKHHRVIAGQFFGHHHTD
SFRMLYDDAGVPISAMFIT
PGVTPWKTTLPGVVNGANNPAIRVFEYDRATLSLKDMVTYFMNLSQANAQGTPRWELEYQ
LTEAYGVPDASAHSMHTVLDRIAGDQSTLQRYYVYNSVSYSAGVCDEACSMQHVCAMRQV
DIDAYTTCLYASGTTPVPQLPLLLMALLGLCTLVL
Sequence length 455
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Attention Deficit Disorder with Hyperactivity Associate 32661301
★☆☆☆☆
Found in Text Mining only
Glomerulosclerosis Focal Segmental Inhibit 21632984
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Associate 25144372
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 38022627
★☆☆☆☆
Found in Text Mining only
Myositis Associate 36478205
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 25144372
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 32575490
★☆☆☆☆
Found in Text Mining only