Gene Gene information from NCBI Gene database.
Entrez ID 4232
Gene name Mesoderm specific transcript
Gene symbol MEST
Synonyms (NCBI Gene)
PEG1
Chromosome 7
Chromosome location 7q32.2
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs863223353 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
91
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005783 Component Endoplasmic reticulum ISS
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601029 7028 ENSG00000106484
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Highly expressed in hydatidiform moles, but barely expressed in dermoid cysts. Biallelic expression is detected in blood lymphocytes. Seems to imprinted in an isoform-specific manner rather than in a tissue-specific manner in lymphocyt
Sequence
MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ
DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI
FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTI
KSLCLSNGGI
FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR
NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL
PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF
Sequence length 335
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Likely pathogenic rs863223353 RCV000202328
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Beckwith Wiedemann Syndrome Associate 26061650
Birth Weight Associate 17450433
Breast Neoplasms Associate 25287138, 25560175, 39766305
Carcinoma Hepatocellular Associate 23229728
Diabetes Gestational Associate 18941474, 23209187
Esophageal Squamous Cell Carcinoma Associate 37149929
Fetal Growth Retardation Associate 33003346
Fetal Macrosomia Associate 34337972
Heart Defects Congenital Associate 33407475
Hereditary Breast and Ovarian Cancer Syndrome Associate 26338779