SMPDL3B (sphingomyelin phosphodiesterase acid like 3B)

2014-11-01  

Identity

HGNC
LOCATION
1p35.3
LOCUSID
ALIAS
ASML3B
FUSION GENES

Other Information

Locus ID:

NCBI: 27293
MIM: 617737
HGNC: 21416
Ensembl: ENSG00000130768

Variants:

dbSNP: 27293
ClinVar: 27293
TCGA: ENSG00000130768
COSMIC: SMPDL3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130768ENST00000373888Q92485
ENSG00000130768ENST00000373894Q92485
ENSG00000130768ENST00000411604Q5T0Y8
ENSG00000130768ENST00000548116F8VXS3
ENSG00000130768ENST00000549094F8VWW8

Expression (GTEx)

0
5
10
15

References

Pubmed IDYearTitleCitations
312174202019SMPDL3b modulates insulin receptor signaling in diabetic kidney disease.7
278369882017Sphingomyelinase-like phosphodiesterase 3b mediates radiation-induced damage of renal podocytes.6
290810732017Urinary excretion of sphingomyelinase phosphodiesterase acid-like 3b in children with intractable nephrotic syndrome.2

Citation

Dessen P

SMPDL3B (sphingomyelin phosphodiesterase acid like 3B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73590/smpdl3b