MN1

Chr 22q12.1

MN1 proto-oncogene, transcriptional regulator

Aliases:: MGCR1-PEN, MGCR1
MANE:: ENST00000302326.5

OMIM: 156100 ↗NCBI: 4330 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MN1 · Q10571

v62025-08-01

Predicted Aligned Error matrix for MN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

42.0/ 100

Very low

1,320 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)4%
Low(50–70)6%
Very low(< 50)88%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

CEBALID syndrome
0.81
hereditary disease
0.51
mathematical ability
0.39
gastric adenoma
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
endometrial endometrioid adenocarcinoma
0.37
gastric carcinoma
0.37
bile duct carcinoma
0.37
breast ductal adenocarcinoma
0.37
colorectal adenocarcinoma
0.37

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

Protein function (UniProt)

Transcriptional activator MN1

Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable)