Gene Gene information from NCBI Gene database.
Entrez ID 29969
Gene name MyoD family inhibitor domain containing
Gene symbol MDFIC
Synonyms (NCBI Gene)
HICLMPHM12MDFIC1
Chromosome 7
Chromosome location 7q31.1-q31.2
Summary This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG
miRNA miRNA information provided by mirtarbase database.
199
miRTarBase ID miRNA Experiments Reference
MIRT021846 hsa-miR-132-3p Microarray 17612493
MIRT002667 hsa-miR-124-3p Microarray 15685193
MIRT046893 hsa-miR-221-3p CLASH 23622248
MIRT493265 hsa-miR-497-3p PAR-CLIP 23592263
MIRT220044 hsa-miR-548a-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12192039, 17289077
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10671520, 16260749
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614511 28870 ENSG00000135272
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P1T7
Protein name MyoD family inhibitor domain-containing protein (I-mfa domain-containing protein) (hIC)
Protein function Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm and inhibits their transcriptional activation (By similarity). Modu
PDB 8YFC , 8YFG , 8ZU3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15316 MDFI 74 246 MyoD family inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphatic tissues. Detected in the spleen, thymus, peripheral blood leukocytes as well as prostate, uterus and small intestine. Expressed in lymphatic endothelial cells (PubMed:35235341). {ECO:0000269|PubMed:10671520, ECO:
Sequence
Sequence length 246
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Viral life cycle - HIV-1  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lymphatic malformation 12 Pathogenic rs562142736, rs2115961148, rs753720421 RCV002279857
RCV002279859
RCV002279860
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MDFIC-related disorder Pathogenic rs562142736 RCV003418436
★★★★☆
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
BILIRUBIN METABOLISM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Neoplasms Stimulate 32457453
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Stimulate 32457453
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 32457453
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Associate 23028501
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 26469549
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 32457453
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 32457453
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 20626849
★☆☆☆☆
Found in Text Mining only