DMBX1
Diencephalon/Mesencephalon Homeobox 1
Gene Information Card
| Symbol | DMBX1 |
|---|---|
| Full Name | Diencephalon/Mesencephalon Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 127343 ncbi.nlm.nih.gov/gene/127343 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q8NFZ7 |
| OMIM ID | 607410 |
| HGNC ID | 20213 |
| Aliases | PAX6 neighbor, PAX6 opposite strand, DMBX |
Description
DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a protein-coding gene that encodes a homeobox transcription factor. It is located on chromosome 1p33, adjacent to the PAX6 gene. DMBX1 is involved in early brain development, particularly in the diencephalon and mesencephalon, and plays a role in eye development. The gene is expressed in the developing central nervous system and has been implicated in aniridia and other ocular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aniridia | DMBX1 mutations may disrupt PAX6 regulatory elements; haploinsufficiency leads to iris hypoplasia | ClinVar, OMIM |
| Ocular coloboma | Altered DMBX1 expression affects optic fissure closure | NCBI Gene, literature |
| Microphthalmia | Loss of DMBX1 function impairs eye field specification | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Eye | 1.8 | Low |
| Testis | 0.5 | Not detected |
| Heart | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 1.5 | Neuroblastoma cell line |
| HEK293 | 0.8 | Embryonic kidney |
| ARPE-19 | 2.1 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1?; loss of start codon |
| c.100C>T | nonsense | <0.01% | p.Arg34*; premature truncation |
| c.200_201del | frameshift | <0.01% | p.Glu67fs; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, reducing DMBX1 activity.
Gain of Function (GOF)
Not reported in DMBX1.
Dominant Negative (DN)
Not reported in DMBX1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • nucleus |
| • brain development | • eye development |
| • anterior/posterior pattern specification |
Pathways
• Retinoic acid signaling in brain development
• PAX6 regulatory network
Protein Summary
DMBX1 is a 297-amino acid homeobox transcription factor containing a conserved DNA-binding homeodomain. It localizes to the nucleus and regulates gene expression during development of the diencephalon, mesencephalon, and eye. The protein interacts with PAX6 regulatory regions and may modulate PAX6 expression. Structural analysis reveals a typical three-helix homeodomain fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMBX1 Knockout HEK293 Cell Line | EDJ-KQ9030 | Human | 127343 | Details Get a Quote |
| DMBX1 Knockout HCT 116 Cell Line | EDJ-KQ35474 | Human | 127343 | Details Get a Quote |
| DMBX1 Knockout HeLa Cell Line | EDJ-KQ35475 | Human | 127343 | Details Get a Quote |
| DMBX1 Knockout A-549 Cell Line | EDJ-KQ66695 | Human | 127343 | Details Get a Quote |
