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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HOXB6
homeobox B6
Chromosome 17 · 17q21.32
NCBI Gene: 3216Ensembl: ENSG00000108511.11HGNC: HGNC:5117UniProt: P17509
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmRNA bindingprotein bindingneurodegenerative diseaseobesityovernutritionAbnormality of the skeletal system
✦AI Summary

HOXB6 is a sequence-specific DNA-binding transcription factor that functions as a developmental regulator of anterior-posterior axis specification. During normal development, HOXB6 exhibits dynamic subcellular localization, with cytoplasmic expression in fetal epidermis and predominantly nuclear localization in differentiated adult tissues 1. HOXB6 plays a critical role in regulating myeloid differentiation, with transient expression during normal granulocytopoiesis and monocytopoiesis; enforced expression inhibits granulocytic and monocytic maturation 2. In disease contexts, HOXB6 emerges as a significant pathogenic factor. HOXB6 is frequently upregulated in acute myeloid leukemia cases lacking major translocations, suggesting roles in leukemogenesis 2. In colorectal cancer, HOXB6 expression is deregulated and serves as a direct target of miR-196B 3, 4. In pancreatic ductal adenocarcinoma, HOXB6 promotes tumorigenesis and suppresses anti-tumor immunity; HOXB6 loss inhibits proliferation, induces apoptosis, and enhances chemotherapy sensitivity while impairing immune evasion mechanisms 5. HOXB6 also drives treatment resistance in castration-resistant prostate cancer through promoting lineage plasticity 6. Additionally, HOXB6 serves as a diagnostic biomarker for endometriosis, where it participates in immune-inflammatory pathways and is potentially druggable by existing therapeutics 7. In rheumatoid arthritis, HOXB6 functions as a specific transcription factor in synovial macrophage subsets 8.

Sources cited
1
HOXB6 exhibits dynamic subcellular localization during epidermal development; cytoplasmic in fetal epidermis, nuclear in adult skin; regulated by isoform expression
PMID: 10906782
2
HOXB6 is transiently induced during normal granulocytopoiesis and monocytopoiesis; enforced expression inhibits maturation; frequently expressed in AML lacking major translocations
PMID: 12094253
3
HOXB6 is directly downregulated by miR-196B in colorectal cancer cells
PMID: 29532406
4
HOXB6 expression is deregulated in human colorectal cancer cell lines and tissues
PMID: 10833444
5
HOXB6 promotes pancreatic cancer proliferation and immune evasion; loss inhibits proliferation, induces apoptosis, and enhances chemotherapy sensitivity
PMID: 40619489
6
HOXB6 is expressed in small cell carcinoma and drives treatment resistance in metastatic castration-resistant prostate cancer
PMID: 33664492
7
HOXB6 serves as a diagnostic biomarker for endometriosis and participates in immune-inflammatory gene networks; potential drug target
PMID: 36532015
8
HOXB6 is a specific transcription factor in M0-like macrophage subset (Mϕ1) in rheumatoid arthritis synovium
PMID: 36940312
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.24Weak
obesityOpen Targets
0.19Weak
overnutritionOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.13Weak
Meckel syndrome, type 1Open Targets
0.12Weak
hypertensionOpen Targets
0.07Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.06Suggestive
Increased blood pressureOpen Targets
0.06Suggestive
Barrett's esophagusOpen Targets
0.06Suggestive
spondylocostal dysostosis 5Open Targets
0.06Suggestive
blepharitisOpen Targets
0.06Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.06Suggestive
Becker nevus syndromeOpen Targets
0.05Suggestive
cardiovascular diseaseOpen Targets
0.05Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.05Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.05Suggestive
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomaliesOpen Targets
0.05Suggestive
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HES4Shared pathway100%HOXA6Protein interaction94%HOXD4Protein interaction94%HOXC6Protein interaction92%HOXA5Protein interaction91%HOXB4Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Lung
51%
Liver
7%
Heart
5%
Ovary
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HOXB6HES4HOXA6HOXD4HOXC6HOXA5HOXB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P17509
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.54–1.16]
RankingsWhere HOXB6 stands among ~20K protein-coding genes
  • #8,082of 20,598
    Most Researched56
  • #12,092of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedHOXB6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene expression analysis in endometriosis: Immunopathology insights, transcription factors and therapeutic targets.
PMID: 36532015
Front Immunol · 2022
1.00
2
A Single-Cell RNA-Sequencing Analysis of Distinct Subsets of Synovial Macrophages in Rheumatoid Arthritis.
PMID: 36940312
DNA Cell Biol · 2023
0.90
3
Expression pattern of HOXB6 homeobox gene in myelomonocytic differentiation and acute myeloid leukemia.
PMID: 12094253
Leukemia · 2002
0.80
4
Transcriptional mediators of treatment resistance in lethal prostate cancer.
PMID: 33664492
Nat Med · 2021
0.70
5
Changes in HOXB6 homeodomain protein structure and localization during human epidermal development and differentiation.
PMID: 10906782
Dev Dyn · 2000
0.60