MEST (mesoderm specific transcript)

Gene

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601029
• HGNC: 7028
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Childhood-onset schizophrenia	Likely pathogenic	rs863223353	RCV000202328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11536368, 12023987, 12851725, 15547750		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	26804237		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22456293		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10554015, 30787268, 30903102		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25287138, 25560175, 39766305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12023987		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23229728	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15547750		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22249249		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23775149		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23775149		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23775149		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29724226		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28221174		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12023987		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	18941474, 23209187	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37149929	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20339302		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33407475	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26338779	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31805646		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	28341274, 28439112		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	37798282	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	23775149		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29724226		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23229728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30787268, 30903102		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15547750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22249249		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30903102		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23775149		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12023987		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12023987		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23415968		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10891541, 23229728, 26130461, 30787268		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15547750		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17182038, 23209187, 28640866, 29058774		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23209187, 24058506, 26119994, 31216936	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24158121	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	23209187	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	23209187		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	18178607, 23970452		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26243143	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23129384	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22249249		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22249249, 22443985	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	31216936		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	11754049, 12552318, 17450433, 18585117, 26663145, 9781054		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15547750		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	28458713		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23775149	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23775149	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20339302		★☆☆☆☆ Found in Text Mining only