Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs863223353	C>T	Likely-pathogenic	Coding sequence variant, missense variant

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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
MIRT1143308	hsa-miR-138	CLIP-seq
MIRT1143309	hsa-miR-181a	CLIP-seq
MIRT1143310	hsa-miR-181b	CLIP-seq
MIRT1143311	hsa-miR-181c	CLIP-seq
MIRT1143312	hsa-miR-181d	CLIP-seq
MIRT1143313	hsa-miR-203	CLIP-seq
MIRT1143314	hsa-miR-2116	CLIP-seq
MIRT1143315	hsa-miR-299-5p	CLIP-seq
MIRT1143316	hsa-miR-29a	CLIP-seq
MIRT1143317	hsa-miR-29b	CLIP-seq
MIRT1143318	hsa-miR-29c	CLIP-seq
MIRT1143319	hsa-miR-3065-3p	CLIP-seq
MIRT1143320	hsa-miR-3119	CLIP-seq
MIRT1143321	hsa-miR-3128	CLIP-seq
MIRT1143322	hsa-miR-3147	CLIP-seq
MIRT1143323	hsa-miR-3177-5p	CLIP-seq
MIRT1143324	hsa-miR-3617	CLIP-seq
MIRT1143325	hsa-miR-3664-5p	CLIP-seq
MIRT1143326	hsa-miR-3689a-3p	CLIP-seq
MIRT1143327	hsa-miR-3689c	CLIP-seq
MIRT1143328	hsa-miR-3689d	CLIP-seq
MIRT1143329	hsa-miR-374c	CLIP-seq
MIRT1143330	hsa-miR-375	CLIP-seq
MIRT1143331	hsa-miR-3942-3p	CLIP-seq
MIRT1143332	hsa-miR-3973	CLIP-seq
MIRT1143333	hsa-miR-4262	CLIP-seq
MIRT1143334	hsa-miR-4273	CLIP-seq
MIRT1143335	hsa-miR-4291	CLIP-seq
MIRT1143336	hsa-miR-4302	CLIP-seq
MIRT1143337	hsa-miR-4310	CLIP-seq
MIRT1143338	hsa-miR-4425	CLIP-seq
MIRT1143339	hsa-miR-4474-3p	CLIP-seq
MIRT1143340	hsa-miR-4475	CLIP-seq
MIRT1143341	hsa-miR-4506	CLIP-seq
MIRT1143342	hsa-miR-4640-5p	CLIP-seq
MIRT1143343	hsa-miR-4651	CLIP-seq
MIRT1143344	hsa-miR-4665-5p	CLIP-seq
MIRT1143345	hsa-miR-4677-5p	CLIP-seq
MIRT1143346	hsa-miR-4714-5p	CLIP-seq
MIRT1143347	hsa-miR-4720-5p	CLIP-seq
MIRT1143348	hsa-miR-4726-5p	CLIP-seq
MIRT1143349	hsa-miR-4728-3p	CLIP-seq
MIRT1143350	hsa-miR-4728-5p	CLIP-seq
MIRT1143351	hsa-miR-4782-5p	CLIP-seq
MIRT1143352	hsa-miR-4789-3p	CLIP-seq
MIRT1143353	hsa-miR-4799-3p	CLIP-seq
MIRT1143354	hsa-miR-516b	CLIP-seq
MIRT1143355	hsa-miR-520g	CLIP-seq
MIRT1143356	hsa-miR-520h	CLIP-seq
MIRT1143357	hsa-miR-541	CLIP-seq
MIRT1143358	hsa-miR-548a-5p	CLIP-seq
MIRT1143359	hsa-miR-548ab	CLIP-seq
MIRT1143360	hsa-miR-548ak	CLIP-seq
MIRT1143361	hsa-miR-548b-5p	CLIP-seq
MIRT1143362	hsa-miR-548c-5p	CLIP-seq
MIRT1143363	hsa-miR-548d-5p	CLIP-seq
MIRT1143364	hsa-miR-548h	CLIP-seq
MIRT1143365	hsa-miR-548i	CLIP-seq
MIRT1143366	hsa-miR-548j	CLIP-seq
MIRT1143367	hsa-miR-548l	CLIP-seq
MIRT1143368	hsa-miR-548n	CLIP-seq
MIRT1143369	hsa-miR-548w	CLIP-seq
MIRT1143370	hsa-miR-548y	CLIP-seq
MIRT1143371	hsa-miR-559	CLIP-seq
MIRT1143372	hsa-miR-561	CLIP-seq
MIRT1143373	hsa-miR-608	CLIP-seq
MIRT1143374	hsa-miR-641	CLIP-seq
MIRT1143375	hsa-miR-654-5p	CLIP-seq
MIRT1143376	hsa-miR-655	CLIP-seq
MIRT1143377	hsa-miR-759	CLIP-seq
MIRT1143378	hsa-miR-767-5p	CLIP-seq
MIRT1143379	hsa-miR-875-3p	CLIP-seq
MIRT1143380	hsa-miR-3164	CLIP-seq
MIRT1143381	hsa-miR-4731-3p	CLIP-seq
MIRT1143382	hsa-miR-4801	CLIP-seq
MIRT2040792	hsa-miR-3133	CLIP-seq
MIRT2040793	hsa-miR-326	CLIP-seq
MIRT2040794	hsa-miR-330-5p	CLIP-seq
MIRT1143331	hsa-miR-3942-3p	CLIP-seq
MIRT1143335	hsa-miR-4291	CLIP-seq
MIRT2040795	hsa-miR-4511	CLIP-seq
MIRT2270484	hsa-miR-188-5p	CLIP-seq
MIRT2040793	hsa-miR-326	CLIP-seq
MIRT2040794	hsa-miR-330-5p	CLIP-seq
MIRT1143335	hsa-miR-4291	CLIP-seq
MIRT1143372	hsa-miR-561	CLIP-seq

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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
GO:0007498	Process	Mesoderm development	TAS	9158153
GO:0010883	Process	Regulation of lipid storage	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

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
FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI
FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR
NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL
PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

Sequence length

335

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Schizophrenia	Childhood-onset schizophrenia	rs863223353	N/A

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Infertility	Associate	37798282
Neoplasm Metastasis	Associate	37149929
Neoplasms	Associate	23129384, 25287138, 25560175, 26338779, 37149929
Neoplasms Adipose Tissue	Associate	26119994
Obesity	Associate	23209187, 24058506, 26119994, 31216936
Obesity	Inhibit	24158121
Obesity Morbid	Associate	23209187
Oligospermia	Associate	23970452
Osteoarthritis	Associate	26243143
Osteosarcoma	Associate	23129384
Ovarian Neoplasms	Associate	22249249, 22443985
Placenta Diseases	Associate	24767650
Pre Eclampsia	Associate	29157033
Pre Eclampsia	Inhibit	33003346
Preeclamptic toxemia	Associate	29157033
Pregnancy Complications	Inhibit	33003346
Renal Insufficiency	Associate	37798282
Silver Russell Syndrome	Associate	17450433
Uterine Cervical Dysplasia	Associate	23775149
Uterine Cervical Neoplasms	Associate	23775149

MEST (mesoderm specific transcript)