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MEST (mesoderm specific transcript)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4232
Gene nameGene Name - the full gene name approved by the HGNC.
Mesoderm specific transcript
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MEST
SynonymsGene synonyms aliases
PEG1
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs863223353 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020968 hsa-miR-155-5p Proteomics 20584899
MIRT021508 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT1143305 hsa-miR-1178 CLIP-seq
MIRT1143306 hsa-miR-1275 CLIP-seq
MIRT1143307 hsa-miR-1299 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005783 Component Endoplasmic reticulum ISS
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007498 Process Mesoderm development TAS 9158153
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q5EB52
Protein name Mesoderm-specific transcript homolog protein (EC 3.-.-.-) (Paternally-expressed gene 1 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1
70 170
alpha/beta hydrolase fold
Domain
Sequence
MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ
DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI
FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTI
KSLCLSNGGI
FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR
NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL
PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF
Sequence length 335
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia, Childhood rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26508570

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