HOXB6
Identifiers
Aliases	HOXB6, HOX2, HOX2B, HU-2, Hox-2.2, homeobox B6
External IDs	OMIM: 142961; MGI: 96187; HomoloGene: 7366; GeneCards: HOXB6; OMA:HOXB6 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.32 Start 48,595,751 bp[1] End 48,604,992 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 D|11 59.82 cM Start 96,183,302 bp[2] End 96,192,395 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis seminal vesicula caput epididymis right uterine tube transverse colon mucosa of transverse colon tail of epididymis human kidney renal medulla endometrium Top expressed in thoracic vertebral column seminal vesicula lumbar subsegment of spinal cord tail of embryo adrenal gland allantois anterior horn of spinal cord inner renal medulla right kidney renal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding protein binding RNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific Cellular component nucleus Biological process embryonic skeletal system morphogenesis multicellular organism development erythrocyte homeostasis regulation of transcription, DNA-templated transcription, DNA-templated anterior/posterior pattern specification embryonic skeletal system development regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3216 15414 Ensembl ENSG00000108511 ENSMUSG00000000690 UniProt P17509 P09023 RefSeq (mRNA) NM_018952 NM_156036 NM_156037 NM_001369397 NM_008269 RefSeq (protein) NP_061825 NP_001356326 NP_032295 Location (UCSC) Chr 17: 48.6 – 48.6 Mb Chr 11: 96.18 – 96.19 Mb PubMed search [3] [4]
Wikidata
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Homeobox protein Hox-B6 is a protein that in humans is encoded by the HOXB6 gene.^[5][6][7]

This gene is a member of the Antp homeobox family and encodes a 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 development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer.^[7]

HOXB6 gene is only expressed in erythroid progenitor cells, which are the precursor to red blood cells used for transport of oxygen and carbon dioxide throughout the body. During development, the formation of the HOX gene factor happens in the first stages of fetal development, namely soon after the establishment of the mesoderm, which is the “middle layer” of the future embryo. However, HOXB6 is only expressed once the undifferentiated stem cells of the embryo distinguish themselves into the erythpoietic phase. The research has shown that HOXB6 is not expressed in hematopoietic stem cells located in the red bone marrow, which are the precursor cells to all types of blood cells, or primordial germ cells (PGCs), the precursor to cells passed on in each generation.^[8] Since it is a transcriptional factor, HOXB6 regulates erythropoiesis (red blood cell formation) using mRNA as the basis for certain protein productions. The specific gene factor for erythrogenesis has relatively been unobserved in the scientific community, and no known diseases have been associated with a defect HOXB6 gene. However, it has been shown in correlation with major skeletal deformations.^[9]

HOXB6 is a structural protein that has been shown to influence the growth and differentiation of the different blood lineages. This gene has also been shown to encourage the growth of granulocytes and monocytes, but at the cost of other blood cells. HOXB6 has the ability to cause the indefinite proliferation of murine marrow cells, as well as expand hematopoietic stem cells. When expressed abnormally, HOXB6 displays many characteristics of a potent oncoprotein. An oncoprotein can cause the transformation of a normal cell into a tumor cell. Overexpression of HOXB6, along with the addition of MEIS1 protein, has been implicated in the development of acute myeloid leukemia (AML). Acute myeloid leukemia is a cancer of the blood cells, specifically the leukocytes. The chromosomal irregularity most frequently seen in HOXB6 AML is a reappearing interstitial deletion of chromosome 2. Fundamental HOXB6 expression stops myeloid differentiation and debilitates erythropoiesis, megakaryopoiesis, and lymphopoiesis.^[10]

• Leukemia
• Myeloid tissue

• HOXB6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: Q24645 (Drosophila subobscura Homeotic protein antennapedia) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.