MDFIC

Chr 7q31.1-q31.2

MyoD family inhibitor domain containing

Aliases:: HIC, MDFIC1
MANE:: ENST00000393486.6

OMIM: 614511 ↗NCBI: 29969 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MDFIC · Q9P1T7

v62025-08-01

Predicted Aligned Error matrix for MDFIC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.9/ 100

Low

246 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)9%
Low(50–70)50%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lymphatic malformation 12
0.72
Abnormality of the skeletal system
0.51
osteoarthritis
0.48
sleep apnea syndrome
0.47
obstructive sleep apnea syndrome
0.43
mathematical ability
0.38
hydrops fetalis
0.37
osteoarthritis, knee
0.33
Wheezing
0.33
bilirubin metabolism disease
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

MyoD family inhibitor domain-containing protein

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). Modulates the expression from cellular promoters. Binds to the axin complex, resulting in an increase in the level of free beta-catenin (PubMed:12192039). Affects axin regulation of the WNT and JNK signaling pathways (PubMed:12192039). Involved in the development of lymphatic vessel valves (By similarity). Required to promote lymphatic endothelial cell migration, in a process that involves down-regulation of integrin beta 1 activation and control of cell adhesion to the extracellular matrix (PubMed:35235341). Regulates the activity of mechanosensitive Piezo channel (PubMed:37590348)