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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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 |
|