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This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
MEST (Mesoderm Specific Transcript) is a Protein Coding gene. Diseases associated with MEST include Uniparental Disomy Of Chromosome 7 and Kidney Cortex Disease. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 19199708 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007498 | mesoderm development | TAS | 9158153 |
GO:0010883 | regulation of lipid storage | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - |
ExUns: | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | · | 18c | · | 18d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||
SP7: | |||||||||||||||||||||
SP8: | |||||||||||||||||||||
SP9: | |||||||||||||||||||||
SP10: | |||||||||||||||||||||
SP11: | |||||||||||||||||||||
SP12: | |||||||||||||||||||||
SP13: | |||||||||||||||||||||
SP14: | |||||||||||||||||||||
SP15: | |||||||||||||||||||||
SP16: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MEST 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MEST 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MEST 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mest 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mest 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MEST 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MEST 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MEST 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MEST 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mest 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mest 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11262 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs863223353 | Likely Pathogenic: Childhood-Onset Schizophrenia | 130,499,898(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3572140 | CNV | loss | 25503493 |
nsv472521 | CNV | novel sequence insertion | 20440878 |
nsv472979 | CNV | novel sequence insertion | 20440878 |
nsv474824 | CNV | novel sequence insertion | 20440878 |
nsv475312 | CNV | novel sequence insertion | 20440878 |
nsv476708 | CNV | novel sequence insertion | 20440878 |
nsv477727 | CNV | novel sequence insertion | 20440878 |
nsv478321 | CNV | novel sequence insertion | 20440878 |
nsv479379 | CNV | novel sequence insertion | 20440878 |
nsv481112 | CNV | novel sequence insertion | 20440878 |
nsv481143 | CNV | novel sequence insertion | 20440878 |
nsv481360 | CNV | novel sequence insertion | 20440878 |
nsv481618 | CNV | novel sequence insertion | 20440878 |
nsv831130 | CNV | loss | 17160897 |
nsv831131 | CNV | loss | 17160897 |
nsv966888 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
uniparental disomy of chromosome 7 |
|
|
kidney cortex disease |
|
|
adult cystic nephroma |
|
|
mixed epithelial stromal tumour |
|
|
nephroma |
|
|