MDFIC2

Summary

MDFIC2 (MyoD family inhibitor domain containing 2, HGNC:53442) is a protein-coding gene on chromosome 3p13, encoding MyoD family inhibitor domain-containing protein 2 (A0A1B0GVS7).

Predicted to be involved in negative regulation of DNA-templated transcription; regulation of JNK cascade; and regulation of Wnt signaling pathway. Predicted to be active in nucleus.

Source: NCBI Gene 107986096 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001364677

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53442
Approved symbol	MDFIC2
Name	MyoD family inhibitor domain containing 2
Location	3p13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000242120
Ensembl biotype	protein_coding
Entrez	107986096

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000567252

RefSeq mRNA: 2 — MANE Select: NM_001364677 NM_001364676, NM_001364677

CCDS: CCDS93309

Canonical transcript exons

ENST00000567252 — 4 exons

Exon	Start	End
ENSE00001834868	70194479	70197185
ENSE00001868860	70206569	70206790
ENSE00002617392	70312551	70312638
ENSE00002625539	70311886	70311973

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 53.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0111 / max 4.7233, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43000	0.0111	7

Top tissues by expression

130 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
caudate nucleus	UBERON:0001873	53.48	gold quality
putamen	UBERON:0001874	50.59	gold quality
sural nerve	UBERON:0015488	40.57	gold quality
ganglionic eminence	UBERON:0004023	38.84	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
right atrium auricular region	UBERON:0006631	35.91	gold quality
endometrium	UBERON:0001295	35.21	gold quality
apex of heart	UBERON:0002098	34.71	gold quality
mucosa of transverse colon	UBERON:0004991	34.14	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.51	gold quality
heart	UBERON:0000948	32.16	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
urinary bladder	UBERON:0001255	30.82	gold quality
monocyte	CL:0000576	30.74	gold quality
heart left ventricle	UBERON:0002084	30.48	silver quality
leukocyte	CL:0000738	30.46	gold quality
calcaneal tendon	UBERON:0003701	30.16	gold quality
prefrontal cortex	UBERON:0000451	30.10	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
nucleus accumbens	UBERON:0001882	29.76	gold quality
islet of Langerhans	UBERON:0000006	29.31	gold quality
smooth muscle tissue	UBERON:0001135	29.06	silver quality
lymph node	UBERON:0000029	28.76	gold quality
liver	UBERON:0002107	28.74	gold quality
tonsil	UBERON:0002372	28.49	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.94

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mdfic2	ENSDARG00000091832
mus_musculus	Mdfic2	ENSMUSG00000090667
rattus_norvegicus	Mdfic2	ENSRNOG00000064294

Paralogs (2): MDFI (ENSG00000112559), MDFIC (ENSG00000135272)

Protein

Protein identifiers

MyoD family inhibitor domain-containing protein 2 — A0A1B0GVS7 (reviewed: A0A1B0GVS7)

All UniProt accessions (1): A0A1B0GVS7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the MDFI family.

Isoforms (2)

UniProt ID	Names	Canonical?
A0A1B0GVS7-1	1	yes
A0A1B0GVS7-2	2

RefSeq proteins (2): NP_001351605, NP_001351606* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026134	MDFI/MDFIC	Family

Pfam: PF15316

UniProt features (4 total): chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9VEE	ELECTRON MICROSCOPY	3.36

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVS7-F1	52.85	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, chr3p13, GOBP_JNK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, DESCARTES_MAIN_FETAL_SMOOTH_MUSCLE_CELLS, DESCARTES_FETAL_HEART_SMOOTH_MUSCLE_CELLS, GOBP_MAPK_CASCADE, GOBP_REGULATION_OF_JNK_CASCADE, GOBP_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_RNA_BIOSYNTHETIC_PROCESS

GO Biological Process (4): regulation of Wnt signaling pathway (GO:0030111), negative regulation of DNA-templated transcription (GO:0045892), regulation of JNK cascade (GO:0046328), regulation of gene expression (GO:0010468)

GO Molecular Function (0):

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of signal transduction	1
Wnt signaling pathway	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
JNK cascade	1
regulation of MAPK cascade	1
gene expression	1
regulation of macromolecule biosynthetic process	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

92 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MDFIC2	IGFLR1	Q9H665	516
MDFIC2	FGFBP3	Q8TAT2	456
MDFIC2	GAS2L3	Q86XJ1	429
MDFIC2	AANAT	Q16613	347
MDFIC2	GAS7	O60861	328
MDFIC2	GTF3C3	Q9Y5Q9	294
MDFIC2	FGF14	Q92915	293
MDFIC2	MEGF10	Q96KG7	291
MDFIC2	FGF12	P61328	285
MDFIC2	GDF6	Q6KF10	261
MDFIC2	GDF10	P55107	260
MDFIC2	FRMD4B	Q9Y2L6	252
MDFIC2	BDH2	Q9BUT1	251
MDFIC2	GDF3	Q9NR23	251
MDFIC2	ADGRF4	Q8IZF3	246

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004

Diamond homologs: A0A1B0GVS7, Q8BX65, Q98SK0, Q9P1T7, Q99750

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1263 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:70197159:A:G	C113R	0.988
3:70197151:A:C	F115L	0.987
3:70197151:A:T	F115L	0.987
3:70197153:A:G	F115L	0.987
3:70196960:A:G	L179P	0.979
3:70197155:A:G	L114P	0.978
3:70197150:A:G	C116R	0.974
3:70196946:A:G	S184P	0.972
3:70196957:G:T	A180D	0.971
3:70196958:C:G	A180P	0.969
3:70196970:A:G	C176R	0.966
3:70196951:T:A	E182V	0.963
3:70197149:C:T	C116Y	0.958
3:70197155:A:T	L114Q	0.958
3:70197164:A:G	L111P	0.957
3:70197135:A:G	C121R	0.956
3:70197148:G:C	C116W	0.954
3:70196937:A:G	C187R	0.952
3:70197155:A:C	L114R	0.950
3:70196952:C:T	E182K	0.947
3:70197153:A:T	F115I	0.945
3:70196966:A:G	L177P	0.941
3:70196953:C:A	M181I	0.937
3:70196953:C:G	M181I	0.937
3:70196953:C:T	M181I	0.937
3:70197149:C:G	C116S	0.937
3:70197150:A:T	C116S	0.937
3:70197157:A:C	C113W	0.935
3:70196935:A:C	C187W	0.934
3:70196948:A:C	I183S	0.934

dbSNP variants (sampled 300 via entrez): RS1000024803 (3:70232634 G>A), RS1000025479 (3:70272339 A>C,G), RS1000046421 (3:70239356 G>A), RS1000071741 (3:70221286 C>G), RS1000133712 (3:70301164 A>T), RS1000140691 (3:70239105 G>A), RS1000148601 (3:70213637 G>A,T), RS1000170954 (3:70196577 A>C), RS1000178356 (3:70252628 A>G), RS1000210173 (3:70210453 A>C), RS1000217021 (3:70290501 G>T), RS1000252893 (3:70245611 C>G,T), RS1000273361 (3:70203060 A>G), RS1000309339 (3:70204537 C>G,T), RS1000309583 (3:70217453 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012465_33	Bipolar disorder	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.