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 Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 32661301 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 31217420
★☆☆☆☆
Found in Text Mining only
Focal glomerulosclerosis Glomerulosclerosis BEFREE 24861084
★☆☆☆☆
Found in Text Mining only
Glomerulosclerosis Focal Segmental Focal segmental glomerulosclerosis Pubtator 21632984 Inhibit
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 25144372 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 26833819
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 38022627 Associate
★☆☆☆☆
Found in Text Mining only
Moyamoya Disease Moyamoya Disease GWASCAT_DG 29273593
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1 Moyamoya disease GWASCAT_DG 29273593
★☆☆☆☆
Found in Text Mining only
Myositis Myositis Pubtator 36478205 Associate
★☆☆☆☆
Found in Text Mining only