AutismKB 2.0

Annotation Detail for SMPD4


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Basic Information Top
Gene Symbol:SMPD4 ( FLJ20297,FLJ20756,KIAA1418,NET13,NSMASE-3,NSMASE3 )
Gene Full Name: sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Band: 2q21.1
Quick LinksEntrez ID:55627; OMIM: 610457; Uniprot ID:NSMA3_HUMAN; ENSEMBL ID: ENSG00000136699; HGNC ID: 32949
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY3DJ-11281sphingomyelin metabolism
Pathway IDPathway Name
hsa00600Sphingolipid metabolism
hsa01100Metabolic pathways
No data
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D014810 Vitamin E Vitamin E results in increased expression of SMPD4 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.8416050911
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:C538011 Eales disease Vitamin E 6.129068938
MESH:D006330 Heart Defects, Congenital Vitamin E 3.2216080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8416863852 16490937
MESH:D019584 Hot Flashes Vitamin E 5.3914716179
MESH:D007251 Influenza, Human Vitamin E 5.6316624496
MESH:D007674 Kidney Diseases Vitamin E 3.0712488133
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.5216863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2315084515
MESH:D012871 Skin Diseases Vitamin E 2.5418709164
MESH:D020521 Stroke Vitamin E 3.9716517955
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00600 Sphingolipid metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00144 - Phosphatidylserine Dietary supplement;Micronutrient
No data
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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018