MAMSTR (MEF2 activating motif and SAP domain containing transcriptional regulator)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 284358
• Gene name: MEF2 activating motif and SAP domain containing transcriptional regulator
• Gene symbol: MAMSTR
• Synonyms (NCBI Gene): MASTR
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1126986	hsa-miR-15a	CLIP-seq
MIRT1126987	hsa-miR-15b	CLIP-seq
MIRT1126988	hsa-miR-16	CLIP-seq
MIRT1126989	hsa-miR-1827	CLIP-seq
MIRT1126990	hsa-miR-195	CLIP-seq
MIRT1126991	hsa-miR-214	CLIP-seq
MIRT1126992	hsa-miR-3170	CLIP-seq
MIRT1126993	hsa-miR-3612	CLIP-seq
MIRT1126994	hsa-miR-3619-5p	CLIP-seq
MIRT1126995	hsa-miR-3665	CLIP-seq
MIRT1126996	hsa-miR-424	CLIP-seq
MIRT1126997	hsa-miR-4291	CLIP-seq
MIRT1126998	hsa-miR-4433	CLIP-seq
MIRT1126999	hsa-miR-4459	CLIP-seq
MIRT1127000	hsa-miR-4695-5p	CLIP-seq
MIRT1127001	hsa-miR-4736	CLIP-seq
MIRT1127002	hsa-miR-4768-3p	CLIP-seq
MIRT1127003	hsa-miR-497	CLIP-seq
MIRT1127004	hsa-miR-650	CLIP-seq
MIRT1127005	hsa-miR-761	CLIP-seq
MIRT1127006	hsa-miR-922	CLIP-seq
MIRT1127007	hsa-miR-940	CLIP-seq

Gene ontology (GO) Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA

Other IDs

• MIM: 610349
• HGNC: 26689
• e!Ensembl: ENSG00000176909

Protein

• UniProt ID: Q6ZN01
• Protein name: MEF2-activating motif and SAP domain-containing transcriptional regulator (MEF2-activating SAP transcriptional regulatory protein)
• Protein function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02037	SAP	172 → 203	SAP domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle, brain, placenta and spleen. {ECO:0000269|PubMed:16818234}.
• Sequence:

  MTLAASSQRSQIIRSKFRSVLQLRIHRRNQEQISDPDPWISASDPPLAPALPSGTAPFLF
  SPGVLLPEPEYCPPWRSPKKESPKISQRWRESKPRGNLTYHQYMPPEPRQGSRADPQAEG
  SALGPPGPSLWEGTDSQQPHPRMKPSPLTPCPPGVPSPSPPPHKLELQTLKLEELTVSEL
  RQQLRLRGLPVSGTKSMLLERMRGGAPPRERPKPRREDSPAGAPWPRLKPKALAAARRQG
  SVKPSAASHRPPLPRAADTPGTAPAPTPTPAPAAAPALTPSSGPGSAALTLEEELQEAIR
  RAQLLPNRGIDDILEDQVEPDDPLPPIPLDFPGSFDVLSPSPDSEGLSSVFSSSLPSPTN
  SSSPSPRDPTDSLDWLEALSGGPPLGSGPPPPSIFSADLSDSSSSRLWDLLEDPW

• Sequence length: 415

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)

Unknown / Other Associations Show/Hide Unknown Diseases (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	34493870, 35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	33037222	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	31089142, 36539618	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	21102463, 37156999, 37262302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	31235808, 39192244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	34906840	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	21102463, 37156999, 37262302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	34493870	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	21833088	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	36653354	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SINUSITIS	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	36777996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN DEFICIENCY DISORDER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (7)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33328473	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	31089142		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27793035		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

POLR1G 2 shared diseasesHyperlipidemia, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Hyperlipidemia), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Hyperlipidemia, Gastroesophageal reflux disease — evidence mostly GWAS catalog. PCDH9 2 shared diseasesDental caries, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Dental caries), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Dental caries, Gastroesophageal reflux disease — evidence mostly GWAS catalog. TMEM59L 2 shared diseasesDental caries, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Dental caries), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Dental caries, Gastroesophageal reflux disease — evidence mostly GWAS catalog. SKIDA1 2 shared diseasesCholecystolithiasis, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Cholecystolithiasis, Gastroesophageal reflux disease — evidence mostly GWAS catalog. IP6K1 2 shared diseasesDental caries, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Dental caries), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Dental caries, Gastroesophageal reflux disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
POLR1G	2	["Hyperlipidemia","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Hyperlipidemia)","GWAS catalog (Gastroesophageal reflux disease)"]
PCDH9	2	["Dental caries","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Dental caries)","GWAS catalog (Gastroesophageal reflux disease)"]
TMEM59L	2	["Dental caries","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Dental caries)","GWAS catalog (Gastroesophageal reflux disease)"]
SKIDA1	2	["Cholecystolithiasis","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gastroesophageal reflux disease)"]
IP6K1	2	["Dental caries","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Dental caries)","GWAS catalog (Gastroesophageal reflux disease)"]

Diseases Linked via Similar Genes

Obesity Linked via 3 of 5 related genesPCDH9, SKIDA1, IP6K1 Insomnia Linked via 2 of 5 related genesPCDH9, IP6K1 Major depressive disorder Linked via 2 of 5 related genesPCDH9, IP6K1 Autism Linked via 1 of 5 related genesPCDH9 Dementia Linked via 1 of 5 related genesPCDH9

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Obesity	3	["PCDH9","SKIDA1","IP6K1"]
Insomnia	2	["PCDH9","IP6K1"]
Major depressive disorder	2	["PCDH9","IP6K1"]
Autism	1	["PCDH9"]
Dementia	1	["PCDH9"]