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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HOXA11
homeobox A11
Chromosome 7 Β· 7p15.2
NCBI Gene: 3207Ensembl: ENSG00000005073.6HGNC: HGNC:5101UniProt: P31270
95PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmprotein-containing complexprotein-DNA complexRadio-ulnar synostosis - amegakaryocytic thrombocytopeniaradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEndometrial Endometrioid Adenocarcinomacolorectal adenocarcinoma
✦AI Summary

HOXA11 is a sequence-specific transcription factor that functions as a developmental regulator controlling anterior-posterior positional identity and skeletal system development 1. In the reproductive tract, HOXA11 is dynamically regulated by estrogen and progesterone, with peak expression during the secretory phase of the menstrual cycle 12. Notably, HOXA11 expression is dramatically downregulated in glandular epithelium during the midsecretory phase, which is essential for endometrial differentiation and receptivity 2. HOXA11 orchestrates implantation through multiple mechanisms, including modulation of extracellular matrix remodeling via metalloproteinases, cytokine signaling, and cell adhesion molecules such as Ξ²3-integrin 1. In gastric cancer, HOXA11 functions as a tumor suppressor gene that is frequently silenced through promoter hypermethylation in 81.25% of primary cases 3. HOXA11 promoter methylation status serves as a significant prognostic marker, with methylated HOXA11 associated with reduced survival (HR = 2.4) 4. Restoration of HOXA11 expression reduces gastric cancer cell proliferation, invasion, and migration by inhibiting Wnt signaling through upregulation of NKD1 3. Additionally, HOXA11-AS, an antisense long non-coding RNA derived from this locus, functions through epigenetic mechanisms as both oncogenic and tumor-suppressive RNA in various cancers 5. These findings establish HOXA11 as a critical developmental regulator with important roles in reproductive health and cancer biology.

Sources cited
1
HOXA11 expression in reproductive tract development, regulation by estrogen/progesterone, role in ECM remodeling and implantation
PMID: 40305321
2
HOXA11 expression pattern in human endometrium, dramatic decrease in glandular epithelium during midsecretory phase
PMID: 15467538
3
HOXA11 hypermethylation in gastric cancer (81.25%), tumor suppressor function, inhibition of Wnt signaling via NKD1
PMID: 25590359
4
HOXA11 promoter methylation as prognostic marker in gastric adenocarcinoma with significant association to patient survival (HR = 2.4)
PMID: 35885590
5
HOXA11-AS functions through epigenetic mechanisms as oncogenic or tumor-suppressive RNA in multiple cancer types
PMID: 32236611
Disease Associationsβ“˜21
Radio-ulnar synostosis - amegakaryocytic thrombocytopeniaOpen Targets
0.66Moderate
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeOpen Targets
0.38Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
non-small cell lung carcinomaOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.31Weak
lung adenocarcinomaOpen Targets
0.30Weak
gliomaOpen Targets
0.30Weak
melanomaOpen Targets
0.30Weak
cutaneous melanomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
gastric carcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
head and neck squamous cell carcinomaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
skin squamous cell carcinomaOpen Targets
0.28Weak
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1UniProt
Pathogenic Variants3
NM_005523.6(HOXA11):c.881T>G (p.Met294Arg)Likely pathogenic
Mesomelic dysplasia with urogenital abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 294
NM_005523.6(HOXA11):c.775G>A (p.Glu259Lys)Likely pathogenic
Inherited genitourinary tract anomalies
β˜†β˜†β˜†β˜†2020β†’ Residue 259
NM_005523.6(HOXA11):c.872del (p.Asn291fs)Pathogenic
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
β˜†β˜†β˜†β˜†2000β†’ Residue 291
View on ClinVar β†—
Related Genes
FOXO1Protein interaction85%PAX2Protein interaction76%PBX1Protein interaction70%HOXA10Protein interaction64%HOXA13Protein interaction58%HOXD13Shared pathway27%
Tissue Expression6 tissues
Brain
100%
Ovary
1%
Lung
0%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HOXA11FOXO1PAX2PBX1HOXA10HOXA13HOXD13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P31270
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.85Intermediate
Observed/Expected LoF0.31 [0.17–0.60]
RankingsWhere HOXA11 stands among ~20K protein-coding genes
  • #5,034of 20,598
    Most Researched95 Β· top quartile
  • #3,992of 5,498
    Most Pathogenic Variants3
  • #4,176of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedHOXA11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 40305321
Biomolecules Β· 2025
1.00
2
PMID: 30100744
Onco Targets Ther Β· 2018
0.90
3
HOXA11 antisense long noncoding RNA (HOXA11-AS): A promising lncRNA in human cancers.
PMID: 29992790
Cancer Med Β· 2018
0.80
4
Recent advances in unraveling the molecular mechanisms and functions of HOXA11‑AS in human cancers and other diseases (Review).
PMID: 32236611
Oncol Rep Β· 2020
0.70
5
DNA Methylation of HOXA11 Gene as Prognostic Molecular Marker in Human Gastric Adenocarcinoma.
PMID: 35885590
Diagnostics (Basel) Β· 2022
0.60