MNX1 Gene: Motor Neuron and Pancreas Homeobox 1
Key regulator of pancreatic development and motor neuron specification; associated with Currarino syndrome and diabetes.
Gene Information Card
| Symbol | MNX1 |
|---|---|
| Full Name | Motor neuron and pancreas homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 4296 ncbi.nlm.nih.gov/gene/4296 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | P50219 |
| OMIM ID | 142994 |
| HGNC ID | 4979 |
| Aliases | HLXB9, HOXHB9, SCRA1 |
Description
MNX1 (motor neuron and pancreas homeobox 1) encodes a homeobox transcription factor essential for the development of the pancreas and motor neurons. It is expressed in the developing pancreas, where it regulates beta-cell differentiation and insulin expression, and in the spinal cord, where it specifies motor neuron identity. Mutations in MNX1 cause Currarino syndrome, a congenital disorder characterized by sacral agenesis, anorectal malformations, and presacral mass. Variants are also associated with neonatal diabetes and maturity-onset diabetes of the young (MODY).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Currarino syndrome | Loss-of-function mutations in MNX1 disrupt motor neuron and hindgut development, leading to sacral agenesis, anorectal malformations, and presacral mass. | OMIM #176450; ClinVar |
| Neonatal diabetes mellitus | Homozygous or compound heterozygous MNX1 mutations impair pancreatic beta-cell development and insulin secretion. | OMIM #142994; PubMed |
| Maturity-onset diabetes of the young (MODY) | Heterozygous MNX1 variants may cause early-onset diabetes through reduced beta-cell function. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Spinal cord | 8.2 | Low |
| Small intestine | 3.1 | Low |
| Stomach | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 15.3 | High expression |
| MIA PaCa-2 (pancreatic cancer) | 10.1 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.694C>T (p.Arg232Ter) | Nonsense | Reported in Currarino syndrome | Loss of function |
| c.880G>A (p.Gly294Arg) | Missense | Rare; associated with MODY | Likely loss of function |
| c.1A>G (p.Met1Val) | Missense (start loss) | Reported in neonatal diabetes | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MNX1 mutations associated with Currarino syndrome and diabetes are loss-of-function, leading to haploinsufficiency or complete loss of protein activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MNX1.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • pancreas development |
| • motor neuron axon guidance | • cell differentiation in spinal cord |
Pathways
• Pancreatic beta-cell development
• Motor neuron specification
• Hox gene regulation during embryogenesis
Protein Summary
The MNX1 protein (also known as HLXB9) is a 401-amino acid homeodomain transcription factor. It binds to specific DNA sequences to regulate genes involved in pancreatic beta-cell differentiation, insulin expression, and motor neuron development. The protein contains a conserved homeobox domain that mediates DNA binding and nuclear localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MNX1 Knockout HEK293 Cell Line | EDJ-KQ50348 | Human | 3110 | Details Get a Quote |
| MNX1 Knockout HeLa Cell Line | EDJ-KQ53519 | Human | 3110 | Details Get a Quote |
| MNX1 Knockout A-549 Cell Line | EDJ-KQ61988 | Human | 3110 | Details Get a Quote |
| MNX1 Knockout HCT 116 Cell Line | EDJ-KQ70470 | Human | 3110 | Details Get a Quote |
