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    HOXB3 homeobox B3 [ Homo sapiens (human) ]

    Gene ID: 3213, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HOXB3provided by HGNC
    Official Full Name
    homeobox B3provided by HGNC
    Primary source
    HGNC:HGNC:5114
    See related
    Ensembl:ENSG00000120093 MIM:142966; AllianceGenome:HGNC:5114
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOX2; HOX2G; Hox-2.7
    Summary
    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 development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 1.6), fat (RPKM 1.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HOXB3 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48548870..48590241, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49412447..49453831, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46626232..46667603, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46608263-46608843 Neighboring gene homeobox B1 Neighboring gene Sharpr-MPRA regulatory region 4554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46620694-46621339 Neighboring gene HOXB cluster antisense RNA 1 Neighboring gene homeobox B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46629432-46630177 Neighboring gene HOXB cluster antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46641715-46642519 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:46647249-46648100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46659314-46660126 Neighboring gene homeobox B4 Neighboring gene HOXB associated long intergenic non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12333 Neighboring gene microRNA 10a Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46671071-46671578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46671579-46672084 Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46673127-46673798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8655 Neighboring gene homeobox B5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12337 Neighboring gene homeobox B6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. HOXB3 drives WNT-activation associated progression in castration-resistant prostate cancer. Zhu S, et al. Cell Death Dis, 2023 Mar 27. PMID 36973255, Free PMC Article
    2. Overexpression of HOXB3 in hematopoietic cells causes defective lymphoid development and progressive myeloproliferation. Sauvageau G, et al. Immunity, 1997 Jan. PMID 9052833
    3. Oct-1 interacts with conserved motifs in the human thyroid transcription factor 1 gene minimal promoter. Bingle CD, et al. Biochem J, 1996 Nov 1. PMID 8920965, Free PMC Article
    4. Definition of the transcriptional activation domains of three human HOX proteins depends on the DNA-binding context. Viganò MA, et al. Mol Cell Biol, 1998 Nov. PMID 9774637, Free PMC Article
    5. Hox expression in AML identifies a distinct subset of patients with intermediate cytogenetics. Roche J, et al. Leukemia, 2004 Jun. PMID 15085154

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sequential gene expression analysis of myelodysplastic syndrome transformation identifies HOXB3 and HOXB7 as the novel targets for mesenchymal cells in disease.
      Title: Sequential gene expression analysis of myelodysplastic syndrome transformation identifies HOXB3 and HOXB7 as the novel targets for mesenchymal cells in disease.
    2. HOXB3 drives WNT-activation associated progression in castration-resistant prostate cancer.
      Title: HOXB3 drives WNT-activation associated progression in castration-resistant prostate cancer.
    3. Extracellular Vesicle-Encapsulated MicroRNA-375 from Bone Marrow-Derived Mesenchymal Stem Cells Inhibits Hepatocellular Carcinoma Progression through Regulating HOXB3-Mediated Wnt/beta-Catenin Pathway.
      Title: Extracellular Vesicle-Encapsulated MicroRNA-375 from Bone Marrow-Derived Mesenchymal Stem Cells Inhibits Hepatocellular Carcinoma Progression through Regulating HOXB3-Mediated Wnt/β-Catenin Pathway.
    4. Levels of serum Hoxb3 and sFlt-1 in pre-eclamptic patients and their effects on pregnancy outcomes.
      Title: Levels of serum Hoxb3 and sFlt-1 in pre-eclamptic patients and their effects on pregnancy outcomes.
    5. CSF levels of HoxB3 and YKL-40 may predict conversion from clinically isolated syndrome to relapsing remitting multiple sclerosis.
      Title: CSF levels of HoxB3 and YKL-40 may predict conversion from clinically isolated syndrome to relapsing remitting multiple sclerosis.
    6. miR-7 Reduces High Glucose Induced-damage Via HoxB3 and PI3K/AKT/mTOR Signaling Pathways in Retinal Pigment Epithelial Cells.
      Title: miR-7 Reduces High Glucose Induced-damage Via HoxB3 and PI3K/AKT/mTOR Signaling Pathways in Retinal Pigment Epithelial Cells.
    7. Data indicate a miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry which contributes to leukemogenesis and suggest a therapeutic strategy of restoring miR-375 expression in Acute myeloid leukemia (AML).
      Title: A novel miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry contributes to leukemogenesis in acute myeloid leukemia.
    8. HOXA4/HOXB3 gene expression-based risk score may be useful for prognostic risk stratification and warrants prospective validation in HGSOC patients.
      Title: HOXA4/HOXB3 gene expression signature as a biomarker of recurrence in patients with high-grade serous ovarian cancer following primary cytoreductive surgery and first-line adjuvant chemotherapy.
    9. HOXB3 is degraded by miR-375 in breast cancer cells.HOXB3 plays role in tamoxifen resistance.
      Title: miR-375 inhibits cancer stem cell phenotype and tamoxifen resistance by degrading HOXB3 in human ER-positive breast cancer.
    10. miR-10b might control cell apoptosis, proliferation, migration, and invasion in endometrial cancer via regulation of HOXB3 expression.
      Title: miR-10b Inhibits Apoptosis and Promotes Proliferation and Invasion of Endometrial Cancer Cells via Targeting HOXB3.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis identifies new childhood obesity loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of homeobox B3 (HOXB3) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in definitive hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic skeletal system morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in face development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glossopharyngeal nerve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rhombomere development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    homeobox protein Hox-B3
    Names
    homeo box 2G
    homeobox protein Hox-2.7
    homeobox protein Hox-2G

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330322.2 → NP_001317251.1  homeobox protein Hox-B3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK299265, AK316245, CN430280, CN430281
      Consensus CDS
      CCDS82154.1
      UniProtKB/TrEMBL
      B3KNJ7
      Related
      ENSP00000418729.1, ENST00000489475.5
      Conserved Domains (2) summary
      pfam00046
      Location:119 → 172
      Homeobox; Homeobox domain
      pfam13293
      Location:293 → 356
      DUF4074; Domain of unknown function (DUF4074)

    2. NM_001330323.1 → NP_001317252.1  homeobox protein Hox-B3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK299226, AK316245, CN430280, CN430281, DA748374
      Consensus CDS
      CCDS82153.1
      UniProtKB/TrEMBL
      F8VXG0
      Related
      ENSP00000418035.1, ENST00000460160.5
      Conserved Domains (2) summary
      pfam00046
      Location:60 → 113
      Homeobox; Homeobox domain
      pfam13293
      Location:234 → 297
      DUF4074; Domain of unknown function (DUF4074)

    3. NM_001384747.1 → NP_001371676.1  homeobox protein Hox-B3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1 and 5, encodes isoform 1.
      Source sequence(s)
      AC103702
      Consensus CDS
      CCDS11528.1
      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484
      UniProtKB/TrEMBL
      B3KNJ7
      Related
      ENSP00000418892.1, ENST00000476342.1
      Conserved Domains (2) summary
      pfam00046
      Location:192 → 245
      Homeobox; Homeobox domain
      pfam13293
      Location:366 → 429
      DUF4074; Domain of unknown function (DUF4074)

    4. NM_001384749.1 → NP_001371678.1  homeobox protein Hox-B3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1 and 4, encodes isoform 1.
      Source sequence(s)
      AC103702
      Consensus CDS
      CCDS11528.1
      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484
      UniProtKB/TrEMBL
      B3KNJ7
      Related
      ENSP00000420595.1, ENST00000498678.6
      Conserved Domains (2) summary
      pfam00046
      Location:192 → 245
      Homeobox; Homeobox domain
      pfam13293
      Location:366 → 429
      DUF4074; Domain of unknown function (DUF4074)

    5. NM_001384750.1 → NP_001371679.1  homeobox protein Hox-B3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AC103702
      Consensus CDS
      CCDS82154.1
      UniProtKB/TrEMBL
      B3KNJ7
      Related
      ENSP00000419676.1, ENST00000472863.5
      Conserved Domains (2) summary
      pfam00046
      Location:119 → 172
      Homeobox; Homeobox domain
      pfam13293
      Location:293 → 356
      DUF4074; Domain of unknown function (DUF4074)

    6. NM_002146.4 → NP_002137.4  homeobox protein Hox-B3 isoform 1

      See identical proteins and their annotated locations for NP_002137.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC103702, AI633956, AK027609, CN358294, DA735249, X16667
      Consensus CDS
      CCDS11528.1
      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484
      UniProtKB/TrEMBL
      B3KNJ7
      Related
      ENSP00000308252.4, ENST00000311626.8
      Conserved Domains (2) summary
      pfam00046
      Location:192 → 245
      Homeobox; Homeobox domain
      pfam13293
      Location:366 → 429
      DUF4074; Domain of unknown function (DUF4074)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48548870..48590241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435900.1 → XP_047291856.1  homeobox protein Hox-B3 isoform X1

    2. XM_017024560.2 → XP_016880049.1  homeobox protein Hox-B3 isoform X1

      Conserved Domains (2) summary
      pfam00046
      Location:339 → 391
      Homeobox; Homeobox domain
      pfam13293
      Location:513 → 576
      DUF4074; Domain of unknown function (DUF4074)

    3. XM_047435901.1 → XP_047291857.1  homeobox protein Hox-B3 isoform X1

    4. XM_047435899.1 → XP_047291855.1  homeobox protein Hox-B3 isoform X1

    5. XM_047435907.1 → XP_047291863.1  homeobox protein Hox-B3 isoform X5

    6. XM_024450737.2 → XP_024306505.1  homeobox protein Hox-B3 isoform X3

      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484
      UniProtKB/TrEMBL
      B3KNJ7
      Conserved Domains (2) summary
      pfam00046
      Location:192 → 245
      Homeobox; Homeobox domain
      pfam13293
      Location:366 → 429
      DUF4074; Domain of unknown function (DUF4074)

    7. XM_047435906.1 → XP_047291862.1  homeobox protein Hox-B3 isoform X2

    8. XM_047435904.1 → XP_047291860.1  homeobox protein Hox-B3 isoform X4

    9. XM_047435902.1 → XP_047291858.1  homeobox protein Hox-B3 isoform X3

      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484

    10. XM_011524708.4 → XP_011523010.2  homeobox protein Hox-B3 isoform X2

      UniProtKB/TrEMBL
      F8VXG0
      Conserved Domains (2) summary
      pfam00046
      Location:60 → 113
      Homeobox; Homeobox domain
      pfam13293
      Location:234 → 297
      DUF4074; Domain of unknown function (DUF4074)

    11. XM_047435903.1 → XP_047291859.1  homeobox protein Hox-B3 isoform X3

      UniProtKB/Swiss-Prot
      A8K567, B7Z5N8, B7Z5P8, B7ZAD0, D3DTV3, O95615, P14651, P17484

    12. XM_011524726.3 → XP_011523028.1  homeobox protein Hox-B3 isoform X5

      See identical proteins and their annotated locations for XP_011523028.1

      UniProtKB/TrEMBL
      B3KNJ7
      Conserved Domains (2) summary
      pfam00046
      Location:119 → 172
      Homeobox; Homeobox domain
      pfam13293
      Location:293 → 356
      DUF4074; Domain of unknown function (DUF4074)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49412447..49453831 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315918.1 → XP_054171893.1  homeobox protein Hox-B3 isoform X1

    2. XM_054315919.1 → XP_054171894.1  homeobox protein Hox-B3 isoform X1

    3. XM_054315917.1 → XP_054171892.1  homeobox protein Hox-B3 isoform X1

    4. XM_054315924.1 → XP_054171899.1  homeobox protein Hox-B3 isoform X5

    5. XM_054315921.1 → XP_054171896.1  homeobox protein Hox-B3 isoform X3

    6. XM_054315923.1 → XP_054171898.1  homeobox protein Hox-B3 isoform X2

    7. XM_054315922.1 → XP_054171897.1  homeobox protein Hox-B3 isoform X4

    8. XM_054315920.1 → XP_054171895.1  homeobox protein Hox-B3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14651.2 GenPept UniProtKB/Swiss-Prot:P14651

    Gene LinkOut

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