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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
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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

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