Gene Gene information from NCBI Gene database.
Entrez ID 4188
Gene name MyoD family inhibitor
Gene symbol MDFI
Synonyms (NCBI Gene)
I-MFI-mfa
Chromosome 6
Chromosome location 6p21.1
Summary This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding.
miRNA miRNA information provided by mirtarbase database.
80
miRTarBase ID miRNA Experiments Reference
MIRT018708 hsa-miR-335-5p Microarray 18185580
MIRT656373 hsa-miR-1470 HITS-CLIP 19536157
MIRT656372 hsa-miR-4667-3p HITS-CLIP 19536157
MIRT656371 hsa-miR-5088-3p HITS-CLIP 19536157
MIRT656370 hsa-miR-6734-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0005515 Function Protein binding IPI 16189514, 17289077, 19060904, 19447967, 21516116, 21653829, 23088713, 24722188, 25416956, 25910212, 26871637, 27107012, 29892012, 30886144, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604971 6967 ENSG00000112559
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99750
Protein name MyoD family inhibitor (Myogenic repressor I-mf)
Protein function Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis (By similarity). Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15316 MDFI 66 246 MyoD family inhibitor Family
Sequence
Sequence length 246
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS 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
Asthma Asthma BEFREE 29066290
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26126114 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28782576
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32457453, 35114976 Associate
★☆☆☆☆
Found in Text Mining only
Leiomyosarcoma Leiomyosarcoma Pubtator 33504899 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26469549
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 29805634
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 32457453 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 18535405 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35225482 Associate
★☆☆☆☆
Found in Text Mining only