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The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]
SMPD4 (Sphingomyelin Phosphodiesterase 4) is a Protein Coding gene. Diseases associated with SMPD4 include Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies and Microcephaly With Simplified Gyral Pattern. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity and sphingomyelin phosphodiesterase D activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004767 | sphingomyelin phosphodiesterase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0050290 | sphingomyelin phosphodiesterase D activity | IBA,IDA | 16517606 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | ISS | -- |
GO:0005640 | nuclear outer membrane | IDA | 31495489 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 16517606 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Sphingolipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006685 | sphingomyelin catabolic process | IDA | 16517606 |
GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
GO:0007029 | endoplasmic reticulum organization | IMP | 31495489 |
GO:0046475 | glycerophospholipid catabolic process | IDA | 16517606 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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3-O-Sulfogalactosylceramide (d18:1/12:0) |
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852100-88-0 |
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3-O-Sulfogalactosylceramide (d18:1/14:0) |
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3-O-Sulfogalactosylceramide (d18:1/16:0) |
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862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
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244215-65-4 |
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3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SMPD4 30 |
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Dog (Canis familiaris) |
Mammalia | SMPD4 30 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Smpd4 30 |
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Mouse (Mus musculus) |
Mammalia | Smpd4 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SMPD4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SMPD4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
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OneToMany | |||
Chicken (Gallus gallus) |
Aves | SMPD4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SMPD4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smpd4 30 |
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Str.6070 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.4713 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | smpd4 30 31 |
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OneToOne | |
wufb22d05 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4009 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000405 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG6962 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691968 | Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | 130,155,268(-) | C/T | INTRON_VARIANT | |
691969 | Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | 130,155,095(-) | C/T | SPLICE_DONOR_VARIANT | |
691970 | Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | 130,173,278(-) | C/A | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
691971 | Likely Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | 130,174,958(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
691972 | Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | 130,156,104(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2032n106 | OTHER | inversion | 24896259 |
dgv4072n100 | CNV | loss | 25217958 |
dgv4073n100 | CNV | gain | 25217958 |
dgv7079n54 | CNV | loss | 21841781 |
esv2751826 | CNV | gain | 17911159 |
esv2759092 | CNV | gain+loss | 17122850 |
esv2760631 | CNV | gain+loss | 21179565 |
esv2763387 | CNV | loss | 21179565 |
esv3584065 | CNV | loss | 25503493 |
esv3592440 | CNV | loss | 21293372 |
esv3592441 | CNV | gain | 21293372 |
esv3893326 | CNV | gain | 25118596 |
nsv1001337 | CNV | loss | 25217958 |
nsv1004301 | CNV | loss | 25217958 |
nsv1005664 | CNV | loss | 25217958 |
nsv1008911 | CNV | gain | 25217958 |
nsv1008970 | CNV | loss | 25217958 |
nsv1011360 | CNV | loss | 25217958 |
nsv428403 | CNV | loss | 18775914 |
nsv459274 | CNV | loss | 19166990 |
nsv482053 | CNV | gain | 20164927 |
nsv520559 | CNV | gain+loss | 19592680 |
nsv583046 | CNV | loss | 21841781 |
nsv583113 | CNV | gain | 21841781 |
nsv7327 | OTHER | inversion | 18451855 |
nsv821629 | CNV | loss | 15273396 |
nsv834375 | CNV | loss | 17160897 |
nsv961882 | CNV | duplication | 23825009 |
nsv998333 | CNV | gain+loss | 25217958 |
Disorder | Aliases | PubMed IDs |
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neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies |
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microcephaly with simplified gyral pattern |
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coffin-siris syndrome 1 |
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microcephaly |
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nanophthalmos |
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