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
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

Location:: 17q21.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20190607	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.
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.
HoxB3 promote prostate cancer progression by upregulating CDCA3 expression.
Title: HoxB3 promotes prostate cancer cell progression by transactivating CDCA3.
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.
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

Go to the top of the page Help

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 NHGRI GWA CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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 BioSystems

Go to the top of the page Help

Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 243 organisms have orthologs with human gene HOXB3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IC Inferred by Curator more info
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
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement 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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: homeobox protein Hox-B3

Names: homeo box 2G; homeobox protein Hox-2.7; homeobox protein Hox-2G

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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
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)
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 Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

48548870..48590272 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000417207.1, ENST00000470495.1
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)
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)
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)
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)