Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27293
Gene name Gene Name - the full gene name approved by the HGNC.
Sphingomyelin phosphodiesterase acid like 3B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMPDL3B
Synonyms (NCBI Gene) Gene synonyms aliases
ASML3B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004767 Function Sphingomyelin phosphodiesterase activity IEA
GO:0005615 Component Extracellular space HDA 16502470
GO:0005615 Component Extracellular space IBA 21873635
GO:0005886 Component Plasma membrane ISS
GO:0006685 Process Sphingomyelin catabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617737 21416 ENSG00000130768
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Moyamoya disease Moyamoya Disease, Moyamoya disease 1 rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410 29273593
Unknown
Disease term Disease name Evidence References Source
Moyamoya Disease Moyamoya Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 32661301
Glomerulosclerosis Focal Segmental Inhibit 21632984
Kidney Diseases Associate 25144372
Leukemia Myeloid Acute Associate 38022627
Myositis Associate 36478205
Neoplasms Associate 25144372
Prostatic Neoplasms Associate 32575490