MEIS2: A Key Homeobox Transcription Factor in Development and Disease
Comprehensive gene card for MEIS2, including genomic annotations, expression profiles, disease associations, and mutation data.
Gene Information Card
| Symbol | MEIS2 |
|---|---|
| Full Name | Meis homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 4212 ncbi.nlm.nih.gov/gene/4212 |
| Ensembl ID | ENSG00000134138 |
| UniProt ID | O14770 |
| OMIM ID | 601740 |
| HGNC ID | 7001 |
| Aliases | MRG1, HsT18361, MEIS2A, MEIS2B, MEIS2C |
Description
MEIS2 (Meis homeobox 2) encodes a homeobox-containing transcription factor that plays a critical role in embryonic development, particularly in the formation of the heart, limbs, and craniofacial structures. It functions as a cofactor for HOX proteins and is involved in cell proliferation and differentiation. Mutations in MEIS2 are associated with developmental disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental delay with or without cleft palate | Haploinsufficiency due to loss-of-function mutations | ClinVar, OMIM |
| Congenital heart defects | Disruption of MEIS2-mediated cardiac gene regulation | ClinVar, OMIM |
| Acute myeloid leukemia | MEIS2 overexpression as a HOX cofactor in leukemogenesis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 7.4 | Low expression |
| HepG2 (liver cancer) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.832C>T (p.Arg278*) | Nonsense | Rare | Loss of function |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Likely loss of function |
| c.1045_1048del (p.Lys349Glufs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt DNA-binding or protein stability, leading to haploinsufficiency.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX signaling pathway
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
MEIS2 is a 390-amino acid homeobox transcription factor containing a TALE-type homeodomain. It forms heterodimers with PBX proteins and binds HOX proteins to regulate target gene expression. The protein is predominantly nuclear and is essential for proper development of the brain, heart, and limbs. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEIS2 Knockout HEK293 Cell Line | EDJ-KQ5199 | Human | 4212 | Details Get a Quote |
| MEIS2 Knockout A-549 Cell Line | EDJ-KQ28193 | Human | 4212 | Details Get a Quote |
| MEIS2 Knockout HCT 116 Cell Line | EDJ-KQ28194 | Human | 4212 | Details Get a Quote |
| MEIS2 Knockout HeLa Cell Line | EDJ-KQ28195 | Human | 4212 | Details Get a Quote |
