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HOXB3 homeobox B3 [ Homo sapiens (human) ]

Gene ID: 3213, updated on 13-Mar-2020

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
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

Genomic context

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See HOXB3 in Genome Data Viewer
Location:
17q21.32
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48548870..48590272, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46626232..46667634, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4554 Neighboring gene HOXB cluster antisense RNA 1 Neighboring gene homeobox B2 Neighboring gene homeobox B4 Neighboring gene microRNA 10a Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene homeobox B5 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
  • 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. Hox expression in AML identifies a distinct subset of patients with intermediate cytogenetics. Roche J, et al. Leukemia, 2004 Jun. PMID 15085154
  2. 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
  3. Overexpression of HOXB3 in hematopoietic cells causes defective lymphoid development and progressive myeloproliferation. Sauvageau G, et al. Immunity, 1997 Jan. PMID 9052833
  4. 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
  5. 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. Miller KR, et al. Gynecol Oncol, 2018 Apr. PMID 29402501

See all (36) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. HOXB2 and HOXB3 act as tumor suppressors in acute myeloid leukemia patients carrying the FLT3 protein mutations.
    Title: The role of HOXB2 and HOXB3 in acute myeloid leukemia.
  6. decreased methylation at HOXB3 and HOXB4 was associated with increased gene expression of both HOXB genes specific to the mid-risk AML, while increased DNA methylation at DCC distinctive to the high-risk AML was associated with increased gene expression
    Title: Identification of differentially methylated markers among cytogenetic risk groups of acute myeloid leukemia.
  7. describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3, HOXD3, and a new synonymous variant, and PITX2 genes
    Title: The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis.
  8. HoxB3 promote prostate cancer progression by upregulating CDCA3 expression.
    Title: HoxB3 promotes prostate cancer cell progression by transactivating CDCA3.
  9. Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes.
    Title: Induction of HoxB transcription by retinoic acid requires actin polymerization.
  10. RASSF1A silencing strongly correlates with overexpression of HOXB3 and DNMT3B.
    Title: Epigenetic silencing of the RASSF1A tumor suppressor gene through HOXB3-mediated induction of DNMT3B expression.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis identifies new childhood obesity loci.
NHGRI GWA 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
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
 PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
angiogenesis IEP
Inferred from Expression Pattern
more info
 PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cartilage development IEA
Inferred from Electronic Annotation
more info
  
definitive hemopoiesis IEA
Inferred from Electronic Annotation
more info
  
embryonic skeletal system morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
face development IEA
Inferred from Electronic Annotation
more info
  
glossopharyngeal nerve morphogenesis IEA
Inferred from Electronic Annotation
more info
  
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
  
rhombomere development IEA
Inferred from Electronic Annotation
more info
  
thyroid gland development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

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/Swiss-Prot
    P14651
    Related
    ENSP00000418729.1, ENST00000489475.5

  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/Swiss-Prot
    P14651
    Related
    ENSP00000418035.1, ENST00000460160.5
    Conserved Domains (2) summary
    pfam00046
    Location:60 → 112
    Homeobox; Homeobox domain
    pfam13293
    Location:234 → 297
    DUF4074; Domain of unknown function (DUF4074)

  3. 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).
    Source sequence(s)
    AC103702, AI633956, AK027609, CN358294, DA735249, X16667
    Consensus CDS
    CCDS11528.1
    UniProtKB/Swiss-Prot
    P14651
    UniProtKB/TrEMBL
    B3KNJ7
    Related
    ENSP00000308252.4, ENST00000311626.8
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48548870..48590272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257277.3 → XP_005257334.1  homeobox protein Hox-B3 isoform X3

    See identical proteins and their annotated locations for XP_005257334.1

    UniProtKB/Swiss-Prot
    P14651
    Related
    ENSP00000420595.1, ENST00000498678.5
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

  2. XM_017024560.1 → 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_011524710.2 → XP_011523012.1  homeobox protein Hox-B3 isoform X3

    See identical proteins and their annotated locations for XP_011523012.1

    UniProtKB/Swiss-Prot
    P14651
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

  4. XM_006721854.3 → XP_006721917.1  homeobox protein Hox-B3 isoform X3

    See identical proteins and their annotated locations for XP_006721917.1

    UniProtKB/Swiss-Prot
    P14651
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

  5. XM_011524721.3 → XP_011523023.1  homeobox protein Hox-B3 isoform X4

    Conserved Domains (2) summary
    pfam00046
    Location:191 → 243
    Homeobox; Homeobox domain
    pfam13293
    Location:365 → 428
    DUF4074; Domain of unknown function (DUF4074)

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

    Related
    ENSP00000417207.1, ENST00000470495.1

  7. XM_011524720.3 → XP_011523022.1  homeobox protein Hox-B3 isoform X3

    See identical proteins and their annotated locations for XP_011523022.1

    UniProtKB/Swiss-Prot
    P14651
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

  8. XM_011524708.3 → XP_011523010.2  homeobox protein Hox-B3 isoform X2

    Conserved Domains (2) summary
    pfam00046
    Location:60 → 112
    Homeobox; Homeobox domain
    pfam13293
    Location:234 → 297
    DUF4074; Domain of unknown function (DUF4074)

  9. XM_011524719.2 → XP_011523021.1  homeobox protein Hox-B3 isoform X3

    See identical proteins and their annotated locations for XP_011523021.1

    UniProtKB/Swiss-Prot
    P14651
    Conserved Domains (2) summary
    pfam00046
    Location:192 → 244
    Homeobox; Homeobox domain
    pfam13293
    Location:366 → 429
    DUF4074; Domain of unknown function (DUF4074)

  10. XM_011524726.2 → XP_011523028.1  homeobox protein Hox-B3 isoform X5

    See identical proteins and their annotated locations for XP_011523028.1

    UniProtKB/Swiss-Prot
    P14651
    Related
    ENSP00000419676.1, ENST00000472863.5
    Conserved Domains (2) summary
    pfam00046
    Location:119 → 171
    Homeobox; Homeobox domain
    pfam13293
    Location:293 → 356
    DUF4074; Domain of unknown function (DUF4074)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14651.2 GenPept UniProtKB/Swiss-Prot:P14651

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