SMPDL3B - sphingomyelin phosphodiesterase acid like 3B Gene

Homo sapiens

Also known as ASML3B

Gene ID: 27293 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

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