HOXB5 Gene

HGNC Family	Homeoboxes
Name	homeobox B5
Description	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n HOXB5, a member of the homeobox family of transcription factors, plays diverse roles in embryonic development, adult stem cell identity, and cancer progression. During development, HOXB5 is dynamically expressed in distinct tissues where it regulates cell fate and migration. For example, in the embryonic gut, migrating neural crest cells express HOXB5 in patterns that correlate with their differentiation into the enteric nervous system, suggesting a regulatory role in gut colonization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In mesoderm‐derived precursors, HOXB5 binds to a specific cis‐acting element within the first intron of the flk1 gene and activates its transcription, thereby promoting endothelial differentiation and angioblast formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In the hematopoietic system, HOXB5 expression is restricted to long‐term hematopoietic stem cells, marking a subset of cells with robust multilineage reconstitution capacity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, genetic and functional studies have implicated HOXB5 in human disease. A genome‐wide association study identified an association between a locus within HOXB5 and early‐onset obesity, suggesting a role for HOXB5 in metabolic regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, aberrant HOXB5 expression has been observed in several cancers. In breast cancer, HOXB5 is overexpressed in estrogen receptor–positive tumors, where its elevated levels correlate with enhanced proliferation, anchorage‐independent growth, and poor distant metastasis–free survival."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In gastric cancer, HOXB5 directly binds and activates the CTNNB1 promoter to upregulate β‐catenin and its downstream targets, thereby promoting cell invasion and migration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Similarly, in non–small cell lung cancer, HOXB5 overexpression contributes to an epithelial–mesenchymal transition phenotype and tumor progression, while in bladder cancer, a single nucleotide polymorphism within the 3′‐UTR of HOXB5 affects microRNA binding and is associated with more aggressive disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies indicate that HOXB5 is a multifunctional regulator whose developmental roles in cell migration and differentiation are co‐opted in oncogenic processes. Its involvement in endothelial differentiation, hematopoietic stem cell maintenance, and modulation of tumor cell proliferation, invasion, and epithelial–mesenchymal transition underscores its potential as both a biomarker and therapeutic target in diverse pathological contexts.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ming Fu, Vincent Chi Hang Lui, Mai Har Sham, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HOXB5 expression is spatially and temporarily regulated in human embryonic gut during neural crest cell colonization and differentiation of enteric neuroblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Dyn (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/dvdy.10350"}], "href": "https://doi.org/10.1002/dvdy.10350"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12950074"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12950074"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yaxu Wu, Martin Moser, Victoria L Bautch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HoxB5 is an upstream transcriptional switch for differentiation of the vascular endothelium from precursor cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.23.16.5680-5691.2003"}], "href": "https://doi.org/10.1128/MCB.23.16.5680-5691.2003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12897140"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12897140"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "James Y Chen, Masanori Miyanishi, Sean K Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hoxb5 marks long-term haematopoietic stem cells and reveals a homogenous perivascular niche."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature16943"}], "href": "https://doi.org/10.1038/nature16943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26863982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26863982"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jonathan P Bradfield, H Rob Taal, Nicholas J Timpson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association meta-analysis identifies new childhood obesity loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2247"}], "href": "https://doi.org/10.1038/ng.2247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22484627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22484627"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ji-Yeon Lee, Ho Hur, Hyo Jung Yun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HOXB5 Promotes the Proliferation and Invasion of Breast Cancer Cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijbs.11431"}], "href": "https://doi.org/10.7150/ijbs.11431"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25999793"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25999793"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Chang-Soo Hong, Oh Jeong, Zhengri Piao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HOXB5 induces invasion and migration through direct transcriptional up-regulation of β-catenin in human gastric carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20150213"}], "href": "https://doi.org/10.1042/BJ20150213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26467157"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26467157"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Junhua Luo, Qingqing Cai, Wei Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A microRNA-7 binding site polymorphism in HOXB5 leads to differential gene expression in bladder cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0040127"}], "href": "https://doi.org/10.1371/journal.pone.0040127"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22768238"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22768238"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Bin Zhang, Na Li, Hao Zhang "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of Homeobox B5 (HOXB5) Inhibits Cell Proliferation, Migration, and Invasion in Non-Small Cell Lung Cancer Cells Through Inactivation of the Wnt/β-Catenin Pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3727/096504017X14900530835262"}], "href": "https://doi.org/10.3727/096504017X14900530835262"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28337958"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28337958"}]}]}]}
Synonyms	HU-1, HOX2.1, HOX2A, HHO.C10
Proteins	HXB5_HUMAN
NCBI Gene ID	3215
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

HOXB5 has 5,756 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 108 datasets.

Click the + buttons to view associations for HOXB5 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

HOXB5 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of HOXB5 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of HOXB5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of HOXB5 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HOXB5 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of HOXB5 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HOXB5 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HOXB5 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of HOXB5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of HOXB5 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of HOXB5 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with HOXB5 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of HOXB5 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of HOXB5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of HOXB5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of HOXB5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of HOXB5 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing HOXB5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing HOXB5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with HOXB5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with HOXB5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of HOXB5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with HOXB5 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with HOXB5 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with HOXB5 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with HOXB5 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by HOXB5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with HOXB5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with HOXB5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with HOXB5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with HOXB5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with HOXB5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with HOXB5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at HOXB5 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of HOXB5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of HOXB5 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing HOXB5 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with HOXB5 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with HOXB5 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of HOXB5 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with HOXB5 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.