Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4232
Gene name Gene Name - the full gene name approved by the HGNC.
Mesoderm specific transcript
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEST
Synonyms (NCBI Gene) Gene synonyms aliases
PEG1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.2
Summary Summary 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs863223353 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601029 7028 ENSG00000106484
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia, Childhood rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
26508570
Associations from Text Mining
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