HOXB3 homeobox B3 [Homo sapiens (human)] - Gene

Summary

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

Location:: 17q21.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (48548870..48590241, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (49412447..49453831, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (46626232..46667603, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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/<i>β</i>-Catenin Pathway.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480777

D17S1827 (e-PCR), detects polymorphism
- UniSTS:57866

SHGC-83404 (e-PCR)
- UniSTS:101908

Hoxb3 (e-PCR), detects polymorphism
- UniSTS:143381

HOXB3_127 (e-PCR)
- UniSTS:277319

RH75958 (e-PCR)
- UniSTS:86356

G66160 (e-PCR)
- UniSTS:229996

GDB:196132 (e-PCR)
- UniSTS:155815

HOXB4_2061 (e-PCR)
- UniSTS:280759

NoName (e-PCR)
- UniSTS:482026

Homology

Homologs of the HOXB3 gene: The HOXB3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 425 organisms have orthologs with human gene HOXB3
Orthologs

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	PubMed
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	PubMed
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	PubMed
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	PubMed
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	PubMed
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	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)

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

Conserved Domains (2) summary

pfam00046
Location:119 → 172

Homeobox; Homeobox domain

pfam13293
Location:293 → 356

DUF4074; Domain of unknown function (DUF4074)
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 → 113

Homeobox; Homeobox domain

pfam13293
Location:234 → 297

DUF4074; Domain of unknown function (DUF4074)
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

UniProtKB/Swiss-Prot

P17484

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)
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

UniProtKB/Swiss-Prot

P17484

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)
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

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)
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

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: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

48548870..48590241 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435900.1 → XP_047291856.1 homeobox protein Hox-B3 isoform X1
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)
XM_047435901.1 → XP_047291857.1 homeobox protein Hox-B3 isoform X1
XM_047435899.1 → XP_047291855.1 homeobox protein Hox-B3 isoform X1
XM_047435907.1 → XP_047291863.1 homeobox protein Hox-B3 isoform X5
XM_024450737.2 → XP_024306505.1 homeobox protein Hox-B3 isoform X3

UniProtKB/Swiss-Prot

P17484

Conserved Domains (2) summary

pfam00046
Location:192 → 245

Homeobox; Homeobox domain

pfam13293
Location:366 → 429

DUF4074; Domain of unknown function (DUF4074)
XM_047435906.1 → XP_047291862.1 homeobox protein Hox-B3 isoform X2
XM_047435904.1 → XP_047291860.1 homeobox protein Hox-B3 isoform X4
XM_047435902.1 → XP_047291858.1 homeobox protein Hox-B3 isoform X3

UniProtKB/Swiss-Prot

P17484
XM_011524708.4 → XP_011523010.2 homeobox protein Hox-B3 isoform X2

Conserved Domains (2) summary

pfam00046
Location:60 → 113

Homeobox; Homeobox domain

pfam13293
Location:234 → 297

DUF4074; Domain of unknown function (DUF4074)
XM_047435903.1 → XP_047291859.1 homeobox protein Hox-B3 isoform X3

UniProtKB/Swiss-Prot

P17484
XM_011524726.3 → XP_011523028.1 homeobox protein Hox-B3 isoform X5

See identical proteins and their annotated locations for XP_011523028.1

UniProtKB/Swiss-Prot

P14651

Conserved Domains (2) summary

pfam00046
Location:119 → 172

Homeobox; Homeobox domain

pfam13293
Location:293 → 356

DUF4074; Domain of unknown function (DUF4074)