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This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
CERS2 (Ceramide Synthase 2) is a Protein Coding gene. Diseases associated with CERS2 include Myoclonic Epilepsy, Juvenile 3 and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11543633 |
GO:0016410 | N-acyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0050291 | sphingosine N-acyltransferase activity | IEA,IDA | 17977534 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 18165233 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
.40
|
|
3 | Sphingolipid signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0030148 | sphingolipid biosynthetic process | IEA,TAS | -- |
GO:0046513 | ceramide biosynthetic process | IEA,IDA | 17977534 |
GO:0048681 | negative regulation of axon regeneration | IEA,ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - |
ExUns: | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | - | - | |||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: | |||||||||||
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LASS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CERS2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CERS2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CERS2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CERS2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cers2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cers2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
LOC100859441 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | CERS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cers2 30 |
|
||
Str.6992 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cers2a 30 31 |
|
OneToMany | |
cers2b 31 |
|
OneToMany | |||
trh3 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | schlank 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hyl-1 31 |
|
ManyToMany | |
hyl-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAC1 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | LAG13 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0581300 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689710 | Uncertain Significance: Marfanoid habitus and intellectual disability | 150,968,135(-) | G/A | MISSENSE_VARIANT | |
770855 | Benign: not provided | 150,967,407(-) | A/G | SYNONYMOUS_VARIANT | |
770856 | Benign: not provided | 150,967,832(-) | G/A | SYNONYMOUS_VARIANT | |
780785 | Benign: not provided | 150,966,842(-) | G/A | SYNONYMOUS_VARIANT | |
rs267738 | - | p.Glu115Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1008496 | CNV | gain | 25217958 |
nsv1142781 | CNV | deletion | 24896259 |
nsv522317 | CNV | loss | 19592680 |
nsv522840 | CNV | gain | 19592680 |
nsv952804 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myoclonic epilepsy, juvenile 3 |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|