Gene Gene information from NCBI Gene database.
Entrez ID 4209
Gene name Myocyte enhancer factor 2D
Gene symbol MEF2D
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q22
Summary This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deace
miRNA miRNA information provided by mirtarbase database.
712
miRTarBase ID miRNA Experiments Reference
MIRT003015 hsa-miR-17-5p Luciferase reporter assay 19666108
MIRT003015 hsa-miR-17-5p Luciferase reporter assay 19666108
MIRT003012 hsa-miR-20a-5p Luciferase reporter assay 19666108
MIRT003012 hsa-miR-20a-5p Luciferase reporter assay 19666108
MIRT027395 hsa-miR-99a-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HDAC7 Repression 11585834
JUN Activation 12054430
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 20590529
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600663 6997 ENSG00000116604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14814
Protein name Myocyte-specific enhancer factor 2D
Protein function Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle developm
PDB 7X1N , 8C84
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00319 SRF-TF 10 57 SRF-type transcription factor (DNA-binding and dimerisation domain) Domain
PF12347 HJURP_C 90 154 Holliday junction regulator protein family C-terminal repeat Domain
Sequence
MGRKKIQIQRITDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNHSNKLFQYAST
DMDKVLLKYTEYNEPHESRTNADIIETLRKKGFNGCDSPEPDGEDSLEQSPLLEDKYRRA
SEELDGLFRRYGSTVPAPNFAMPVTVPVSNQSSL
QFSNPSGSLVTPSLVTSSLTDPRLLS
PQQPALQRNSVSPGLPQRPASAGAMLGGDLNSANGACPSPVGNGYVSARASPGLLPVANG
NSLNKVIPAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGV
SQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAELSSLPAFSSPGGLSLGN
VTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSP
LPHVGAALTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYET
GDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDTWTLK
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
Apelin signaling pathway
Parathyroid hormone synthesis, secretion and action
  Transcriptional activation of mitochondrial biogenesis
Circadian Clock
Myogenesis
NGF-stimulated transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMMON MIGRAINE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEF2D-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 29978456
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15744350, 17898785, 27507882, 27824051, 30171027, 30478446
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27507882
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 30459414
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 19666108
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26164003, 34876040 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26355845, 26409449, 28340574, 29963192
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 30171027 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31218100
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 29344185
★☆☆☆☆
Found in Text Mining only