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

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284358
Gene name Gene Name - the full gene name approved by the HGNC.
MEF2 activating motif and SAP domain containing transcriptional regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAMSTR
Synonyms (NCBI Gene) Gene synonyms aliases
MASTR
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610349 26689 ENSG00000176909
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Hyperlipidemia Familial combined hyperlipidemia defined by Brunzell criteria, Familial combined hyperlipidemia defined by Goldstein criteria N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 33328473