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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MEIS2
Meis homeobox 2
Chromosome 15 Β· 15q14
NCBI Gene: 4212Ensembl: ENSG00000134138.23HGNC: HGNC:7001UniProt: B3KPD8
91PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIprotein bindingpositive regulation of cardiac muscle myoblast proliferationsequence-specific double-stranded DNA bindingcardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesCognitive impairmentgenetic disordersyndromic intellectual disability
✦AI Summary

MEIS2 (Meis homeobox 2) is a homeobox transcription factor that plays critical roles in transcriptional regulation across multiple biological contexts. The protein functions primarily by forming complexes with HOX and PBX proteins to regulate target gene expression 1. MEIS2 has been identified as an endogenous substrate of the CRL4(CRBN) E3 ubiquitin ligase complex, suggesting post-translational regulation of its activity 1. In neuroblastoma, MEIS2 acts as a master transcription factor alongside MYCN and HAND2, forming complexes that establish super-enhancers to drive oncogene expression and maintain cellular proliferation 2. The protein demonstrates tissue-specific functions, including regulation of BACE1 expression in Alzheimer's disease pathogenesis, where elevated MEIS2 levels contribute to amyloid plaque formation 3. In liver aging, MEIS2 drives IL-1Ξ± expression in senescent liver sinusoidal endothelial cells, promoting inflammatory responses and ischemia-reperfusion injury 4. Clinically, MEIS2 variants are associated with syndromic intellectual disability, including cleft palate and cardiac defects 5. The gene also plays roles in leukemia, where NUP98-MEIS2 fusions contribute to disease phenotypes through direct regulation of differentiation-related genes 6. MEIS2 depletion studies in neuroblastoma reveal its involvement in cell cycle regulation and DNA repair pathways 7.

Sources cited
1
MEIS2 identified as endogenous substrate of CRL4(CRBN) E3 ubiquitin ligase
PMID: 25043012
2
MEIS2 acts as master transcription factor with MYCN and HAND2 in neuroblastoma
PMID: 38864832
3
MEIS2 regulates BACE1 expression and contributes to Alzheimer's disease pathogenesis
PMID: 38994634
4
MEIS2 drives IL-1Ξ± expression in liver aging and ischemia-reperfusion injury
PMID: 41062182
5
MEIS2 variants associated with syndromic intellectual disability
PMID: 38114583
6
NUP98-MEIS2 fusions regulate differentiation genes in leukemia
PMID: 40700635
7
MEIS2 depletion affects cell cycle and DNA repair pathways in neuroblastoma
PMID: 33277872
Disease Associationsβ“˜21
cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesOpen Targets
0.79Strong
Cognitive impairmentOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.49Moderate
syndromic intellectual disabilityOpen Targets
0.44Moderate
cleft palateOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.39Weak
cleft lip/palateOpen Targets
0.34Weak
respiratory system neoplasmOpen Targets
0.34Weak
laryngeal carcinomaOpen Targets
0.34Weak
food allergyOpen Targets
0.34Weak
response to risperidoneOpen Targets
0.32Weak
major depressive disorderOpen Targets
0.31Weak
facial morphologyOpen Targets
0.31Weak
type 1 diabetes nephropathyOpen Targets
0.30Weak
benign neoplasm of eyeOpen Targets
0.30Weak
kidney transplantOpen Targets
0.29Weak
lower urinary tract calculusOpen Targets
0.28Weak
fungal lung infectious diseaseOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.27Weak
pneumoniaOpen Targets
0.27Weak
Cleft palate, cardiac defects, and impaired intellectual developmentUniProt
Pathogenic Variants44
NM_170675.5(MEIS2):c.655C>T (p.Arg219Ter)Pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜…β˜†β˜†2025β†’ Residue 219
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)Pathogenic
Inborn genetic diseases|not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜…β˜†β˜†2025β†’ Residue 174
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|not provided|MEIS2-related disorder|Inborn genetic diseases|Cleft palate
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)Pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜…β˜†β˜†2024β†’ Residue 306
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 312
NM_170675.5(MEIS2):c.777_781del (p.Ala260fs)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜…β˜†β˜†2024β†’ Residue 260
NM_170675.5(MEIS2):c.505_512dup (p.Phe171fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2025β†’ Residue 171
NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu)Likely pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2025β†’ Residue 302
NM_170675.5(MEIS2):c.825dup (p.Arg276fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2025β†’ Residue 276
NM_170675.5(MEIS2):c.654G>A (p.Trp218Ter)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2025β†’ Residue 218
NM_170675.5(MEIS2):c.998G>A (p.Arg333Lys)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 333
NM_170675.5(MEIS2):c.1010_1012del (p.Pro337_Met338delinsLeu)Likely pathogenic
Cleft palate
β˜…β˜†β˜†β˜†2024β†’ Residue 337
NM_170675.5(MEIS2):c.170del (p.His57fs)Likely pathogenic
Syndromic intellectual disability
β˜…β˜†β˜†β˜†2024β†’ Residue 57
NM_170675.5(MEIS2):c.889C>T (p.Gln297Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 297
NM_170675.5(MEIS2):c.1030C>T (p.Arg344Ter)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 344
NM_170675.5(MEIS2):c.908A>G (p.Tyr303Cys)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 303
NM_170675.5(MEIS2):c.991A>G (p.Arg331Gly)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 331
NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β˜…β˜†β˜†β˜†2023β†’ Residue 41
NM_170675.5(MEIS2):c.994A>G (p.Arg332Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 332
NM_170675.5(MEIS2):c.104dup (p.Val36fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 36
View on ClinVar β†—
Related Genes
DLX3Protein interaction99%LMX1BProtein interaction99%MAB21L1Protein interaction99%HOXB13Protein interaction96%CRBNProtein interaction84%DLX2Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Ovary
83%
Liver
34%
Brain
29%
Lung
20%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MEIS2DLX3LMX1BMAB21L1HOXB13CRBNDLX2
PROTEIN STRUCTURE
Preparing viewer…
PDB4XRM Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.26Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.26]
RankingsWhere MEIS2 stands among ~20K protein-coding genes
  • #5,254of 20,598
    Most Researched91
  • #1,442of 5,498
    Most Pathogenic Variants44
  • #797of 17,882
    Most Constrained (LOEUF)0.26 Β· top 5%
Genes detectedMEIS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure of the DDB1-CRBN E3 ubiquitin ligase in complex with thalidomide.
PMID: 25043012
Nature Β· 2014
1.00
2
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
0.90
3
Super-enhancer-driven IRF2BP2 enhances ALK activity and promotes neuroblastoma cell proliferation.
PMID: 38864832
Neuro Oncol Β· 2024
0.80
4
Crosstalk between liver sinusoidal endothelial cells and hepatocytes via IL-1Ξ±-IL1R1 axis exacerbates ischaemia/reperfusion injury in aged livers.
PMID: 41062182
Gut Β· 2025
0.70
5
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
PMID: 38114583
Eur J Hum Genet Β· 2024
0.60