HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HOXB2
homeobox B2
Chromosome 17 · 17q21.32
NCBI Gene: 3212Ensembl: ENSG00000173917.11HGNC: HGNC:5113UniProt: P14652
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IInucleoplasmDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingliver diseasedenturesSnoringkeratoconus
✦AI Summary

HOXB2 is a sequence-specific transcription factor that plays diverse roles in development, hematopoiesis, and cancer regulation. As a homeodomain-containing protein, HOXB2 functions as part of a developmental regulatory system providing positional identity along the anterior-posterior axis 1. In hematopoietic development, HOXB2 is specifically expressed in erythromegakaryocytic cell lines and is regulated by GATA-1 transcription factor in erythroid cells 2. HOXB2 can both positively and negatively regulate gene transcription, as demonstrated in gamma-globin regulation where it forms complexes with SATB1 and has opposing regulatory effects 3. The protein also participates in cross-regulatory networks with other developmental genes, including positive regulation of Otx2 transcription through specific DNA-binding sites 4. In cancer contexts, HOXB2 exhibits context-dependent functions: it acts as a tumor suppressor in triple-negative breast cancer by regulating extracellular matrix organization through MATN3 and ECM2 1, while promoting colon cancer progression via CCT6A upregulation 5. HOXB2 expression is also dysregulated in viral infections and shows tissue-specific patterns in ocular development, suggesting broader roles in cellular differentiation and pathological processes 67.

Sources cited
1
HOXB2 acts as tumor suppressor in triple-negative breast cancer via ECM remodeling and regulates MATN3/ECM2 transcription
PMID: 38322121
2
HOXB2 is expressed specifically in erythromegakaryocytic cells and regulated by GATA-1 transcription factor
PMID: 7876223
3
HOXB2 forms complexes with SATB1 and has negative regulatory effects on gamma-globin transcription
PMID: 10595394
4
HOXB2 promotes colon cancer cell proliferation and invasion through CCT6A upregulation
PMID: 35315492
5
HOXB2 expression is affected by HCMV infection and ATRA treatment in erythroid progenitor development
PMID: 21879259
6
HOXB2 positively regulates Otx2 gene transcription through specific DNA-binding sites
PMID: 9556594
7
HOXB2 shows higher expression in anterior sclera compared to posterior sclera in human infants
PMID: 27336854
Disease Associationsⓘ20
liver diseaseOpen Targets
0.23Weak
denturesOpen Targets
0.17Weak
SnoringOpen Targets
0.13Weak
keratoconusOpen Targets
0.13Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
dental cariesOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
central nervous system cancerOpen Targets
0.06Suggestive
NephroblastomaOpen Targets
0.05Suggestive
chronic ulcer of skinOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Down syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNTNAP3BShared pathway100%BARHL2Shared pathway100%OTOGShared pathway100%LNX2Shared pathway100%MDGA2Shared pathway100%MAMDC4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
30%
Liver
6%
Heart
5%
Bone Marrow
3%
Ovary
3%
Gene Interaction Network
Click a node to explore
HOXB2CNTNAP3BBARHL2OTOGLNX2MDGA2MAMDC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P14652
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.70–1.65]
RankingsWhere HOXB2 stands among ~20K protein-coding genes
  • #7,876of 20,598
    Most Researched58
  • #15,899of 17,882
    Most Constrained (LOEUF)1.65
Genes detectedHOXB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The homeoprotein HOXB2 limits triple-negative breast carcinogenesis via extracellular matrix remodeling.
PMID: 38322121
Int J Biol Sci · 2024
1.00
2
Transcription factor GATA-1 regulates human HOXB2 gene expression in erythroid cells.
PMID: 7876223
J Biol Chem · 1995
0.90
3
The gammaPE complex contains both SATB1 and HOXB2 and has positive and negative roles in human gamma-globin gene regulation.
PMID: 10595394
DNA Cell Biol · 1999
0.80
4
HOXB2 increases the proliferation and invasiveness of colon cancer cells through the upregulation of CCT6A.
PMID: 35315492
Mol Med Rep · 2022
0.70
5
Effect of human cytomegalovirus infection on the expression of Hoxb2 and Hoxb4 genes in the developmental process of cord blood erythroid progenitors.
PMID: 21879259
Mol Med Rep · 2011
0.60