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Aliases for MDFI Gene

Aliases for MDFI Gene

  • MyoD Family Inhibitor 2 3 5
  • Inhibitor Of MyoD Family A 2 3
  • Myogenic Repressor I-Mf 3 4
  • I-Mfa 3
  • I-MF 3

External Ids for MDFI Gene

Previous GeneCards Identifiers for MDFI Gene

  • GC06P041606
  • GC06P041653
  • GC06P041714
  • GC06P041324

Summaries for MDFI Gene

Entrez Gene Summary for MDFI Gene

  • 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. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]

GeneCards Summary for MDFI Gene

MDFI (MyoD Family Inhibitor) is a Protein Coding gene. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is MDFIC.

UniProtKB/Swiss-Prot for MDFI Gene

  • Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity).

Gene Wiki entry for MDFI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDFI Gene

Genomics for MDFI Gene

Regulatory Elements for MDFI Gene

Enhancers for MDFI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G041704 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +69.6 69584 4.9 HDGF PKNOX1 ATF1 WRNIP1 ARID4B SIN3A ZNF2 ZNF48 ZNF143 ZNF207 TFEB PGC UBR2 MDFI TREML3P ENSG00000124593 TREM1 GC06M041707 GC06M041708 GC06P041713
GH06G041502 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -132.5 -132492 4.0 HDGF PKNOX1 WRNIP1 ARID4B FEZF1 YBX1 GLI4 ZNF48 ZBTB7B GLIS2 MDFI LINC01276 FOXP4
GH06G041601 1.5 Ensembl ENCODE dbSUPER 12.2 -34.1 -34094 2.0 PKNOX1 ARNT ZFP64 SIN3A ARID4B ZNF2 ZNF48 GLIS2 ZNF143 ZNF207 MDFI FOXP4 MIR4641
GH06G041560 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -75.1 -75146 3.1 FOXA2 RAD21 ZBTB40 ETS1 ZNF335 ZNF121 RELB PCBP1 ETV6 IKZF2 FOXP4 MDFI CCND3 NFYA TAF8 TFEB GC06P041549 GC06P041550 GC06M041544
GH06G041715 1.5 Ensembl ENCODE dbSUPER 10.9 +80.1 80101 2.3 HDGF ARID4B ZNF48 ZNF2 GLIS2 ZNF143 FOS SP5 REST KAT8 PGC MDFI ENSG00000124593 ENSG00000231102 GC06P041713
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MDFI on UCSC Golden Path with GeneCards custom track

Promoters for MDFI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000320633 318 401 SMARCC1 SUZ12 TEAD4 RBBP5 SMARCB1 E2F1 JUND CTBP2 FOXP2 FOS
ENSR00000196862 1718 801 CTCF RNF2 SUZ12 CBX2 RBBP5 EZH2

Genomic Location for MDFI Gene

Chromosome:
6
Start:
41,636,882 bp from pter
End:
41,654,246 bp from pter
Size:
17,365 bases
Orientation:
Plus strand

Genomic View for MDFI Gene

Genes around MDFI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDFI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDFI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDFI Gene

Proteins for MDFI Gene

  • Protein details for MDFI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99750-MDFI_HUMAN
    Recommended name:
    MyoD family inhibitor
    Protein Accession:
    Q99750

    Protein attributes for MDFI Gene

    Size:
    246 amino acids
    Molecular mass:
    25029 Da
    Quaternary structure:
    • The C-terminus interacts with AXIN1 and LEF1 (By similarity). Interacts with CCNT2 (PubMed:17289077).

neXtProt entry for MDFI Gene

Post-translational modifications for MDFI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MDFI Gene

Domains & Families for MDFI Gene

Protein Domains for MDFI Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MDFI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99750

UniProtKB/Swiss-Prot:

MDFI_HUMAN :
  • Belongs to the MDFI family.
Family:
  • Belongs to the MDFI family.
genes like me logo Genes that share domains with MDFI: view

No data available for Gene Families for MDFI Gene

Function for MDFI Gene

Molecular function for MDFI Gene

GENATLAS Biochemistry:
myogenic factor D family (MYOD) inhibitor homolog of mouse I-mfa,expressed in the sclerotome,involved in the patterning of somites
UniProtKB/Swiss-Prot Function:
Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity).

Gene Ontology (GO) - Molecular Function for MDFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008134 transcription factor binding IBA --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with MDFI: view
genes like me logo Genes that share phenotypes with MDFI: view

Animal Models for MDFI Gene

MGI Knock Outs for MDFI:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MDFI Gene

Localization for MDFI Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDFI Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDFI gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MDFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IBA --
GO:0005737 cytoplasm TAS,IEA --
genes like me logo Genes that share ontologies with MDFI: view

Pathways & Interactions for MDFI Gene

No Data Available

Gene Ontology (GO) - Biological Process for MDFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0007275 multicellular organism development IEA --
GO:0009790 embryo development TAS 8797820
GO:0009950 dorsal/ventral axis specification ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with MDFI: view

No data available for Pathways by source and SIGNOR curated interactions for MDFI Gene

Transcripts for MDFI Gene

Unigene Clusters for MDFI Gene

MyoD family inhibitor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MDFI Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
SP1: - - - - -
SP2: - - -
SP3:
SP4:
SP5: -
SP6:
SP7: -

Relevant External Links for MDFI Gene

GeneLoc Exon Structure for
MDFI
ECgene alternative splicing isoforms for
MDFI

Expression for MDFI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MDFI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MDFI Gene

This gene is overexpressed in Esophagus - Mucosa (x5.5) and Adipose - Visceral (Omentum) (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of MDFI Gene:

MDFI

SOURCE GeneReport for Unigene cluster for MDFI Gene:

Hs.520119

Evidence on tissue expression from TISSUES for MDFI Gene

  • Nervous system(4.2)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with MDFI: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDFI Gene

Orthologs for MDFI Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDFI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDFI 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia MDFI 34 35
  • 92.28 (n)
cow
(Bos Taurus)
Mammalia MDFI 34 35
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Mdfi 34
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Mdfi 34 16 35
  • 83.74 (n)
oppossum
(Monodelphis domestica)
Mammalia MDFI 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDFI 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859031 34
  • 73.63 (n)
MDFI 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDFI 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdfi 34
  • 55.08 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537791 34
  • 68.71 (n)
MDFI 35
  • 45 (a)
OneToOne
Species where no ortholog for MDFI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MDFI Gene

ENSEMBL:
Gene Tree for MDFI (if available)
TreeFam:
Gene Tree for MDFI (if available)

Paralogs for MDFI Gene

Paralogs for MDFI Gene

(1) SIMAP similar genes for MDFI Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MDFI: view

Variants for MDFI Gene

Sequence variations from dbSNP and Humsavar for MDFI Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000018861 -- 41,644,371(+) TCCCC(A/G)TTGCC intron-variant
rs1000188710 -- 41,646,051(+) GGGCT(G/T)TGGGG intron-variant
rs1000312571 -- 41,650,972(+) CCACC(A/G)AGGCA intron-variant
rs1000549768 -- 41,640,345(+) CCATT(C/G)TCAGC intron-variant
rs1000571033 -- 41,647,297(+) CAGCC(C/T)CCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MDFI Gene

Variant ID Type Subtype PubMed ID
esv2109973 CNV deletion 18987734
esv2657739 CNV deletion 23128226
esv2731976 CNV deletion 23290073
esv2759422 CNV loss 17122850
esv3567697 CNV deletion 23714750
esv3571026 CNV loss 25503493
nsv1073552 CNV deletion 25765185
nsv1137545 CNV deletion 24896259
nsv519925 CNV loss 19592680
nsv957550 CNV deletion 24416366

Variation tolerance for MDFI Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDFI Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDFI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDFI Gene

Disorders for MDFI Gene

Relevant External Links for MDFI

Genetic Association Database (GAD)
MDFI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDFI

No disorders were found for MDFI Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MDFI Gene

Publications for MDFI Gene

  1. Developmental regulators containing the I-mfa domain interact with T cyclins and Tat and modulate transcription. (PMID: 17289077) Wang Q. … Pe'ery T. (J. Mol. Biol. 2007) 2 3 4 22 64
  2. The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17. (PMID: 9250874) Kraut N. (Mamm. Genome 1997) 2 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N. … Roth F.P. (Mol. Syst. Biol. 2016) 3 64

Products for MDFI Gene

Sources for MDFI Gene

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