AlphaFold predicted structure
MNX1 · P50219
Mean pLDDT
57.1/ 100
Low
401 residues
Confidence breakdown
- Very high(≥ 90)14%
- Confident(70–90)6%
- Low(50–70)32%
- Very low(< 50)49%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MNX1
Chr 7q36.3motor neuron and pancreas homeobox 1
- Aliases:
- HB9, HOXHB9, SCRA1
- MANE:
- ENST00000252971.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Currarino triad
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDiabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownNeonatal diabetes
BIALLELIC, autosomal or pseudoautosomalNon-syndromic familial congenital anorectal malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
+3 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Currarino triad
0.81hereditary disease
0.42permanent neonatal diabetes mellitus
0.37neonatal diabetes mellitus
0.37anorectal malformation
0.37Abnormality of the vertebral column
0.27type 2 diabetes mellitus
0.21non-small cell lung carcinoma
0.21urinary bladder carcinoma
0.21hepatocellular carcinoma
0.21
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Motor neuron and pancreas homeobox protein 1
Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity, in concert with LIM domain transcription factor LMO4 (By similarity). Involved in negatively modulating transcription of interneuron genes in motor neurons, acting, at least in part, by blocking regulatory sequence interactions of the ISL1-LHX3 complex (By similarity). Involved in pancreas development and function; may play a role in pancreatic cell fate specification (By similarity)