SMPDL3B - sphingomyelin phosphodiesterase acid like 3B Gene

Also Known as ASML3B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27293

About SMPDL3B

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,935,000-27,959,152 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and 2 paralogues. Biased expression in duodenum (RPKM 6.3), colon (RPKM 6.3) and 13 other tissues.

Summary

Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of Toll-like Receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SMPDL3B Products (3)

mRNA	Protein	Name
NM_001009568.3	NP_001009568.1	acid sphingomyelinase-like phosphodiesterase 3b isoform 2 precursor
NM_001304579.2	NP_001291508.1	acid sphingomyelinase-like phosphodiesterase 3b isoform 3
NM_014474.4	NP_055289.2	acid sphingomyelinase-like phosphodiesterase 3b isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables phosphoric diester hydrolase activity	IMP IMP: Inferred from mutant phenotype	26095358	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31217420	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMPDL3B Protein Structure

Metallophos

0
100
200
300
400
455 a.a.

Protein Preferred Names	Protein Names
acid sphingomyelinase-like phosphodiesterase 3b	ASM-like phosphodiesterase 3b

Related Diseases

Diseases	Alias
Xia-Gibbs Syndrome	Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome XIGIS Mrd25 Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome Mental Retardation, Autosomal Dominant 25, Formerly Mrd25, Formerly Autosomal Dominant Mental Retardation 25 Autosomal Dominant Intellectual Disability 25 Xgs
Lipoid Nephrosis	Minimal Change Disease Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome Idiopathic Minimal Change Nephrotic Syndrome Mcns Minimal Change Glomerulopathy Minimal Change Nephrotic Syndrome Nephrotic Syndrome Minimal Change Nephrosis, Lipoid Glomerulonephritis, Minimal Change Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Nephrotic Syndrome, Type 7	Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7 NPHS7 Nephrotic Syndrome Type 7 Ig-Mediated Membranoproliferative Glomerulonephritis Ig-Mediated Mpgn Immunoglobulin-Mediated Mpgn Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical 7 Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis Hemolytic Uremic Syndrome With Dgke Deficiency Hus With Dgke Deficiency Hemolytic Uremic Syndrome Atypical 7 AHUS7 Nephrotic Syndrome 7 Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis
Astigmatism
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13452	SMPDL3B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMPDL3B	MGD	MGI:1916022
Rattus norvegicus	SMPDL3B	RGD	RGD:1307458
Felis catus	SMPDL3B	VGNC	VGNC:65505
Canis familiaris	SMPDL3B	VGNC	VGNC:46574
Bos taurus	SMPDL3B	VGNC	VGNC:35034
Others	SMPDL3B	NCBI