HOXB4 homeobox B4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXB4provided by HGNC
Official Full Name: homeobox B4provided by HGNC
Primary source: HGNC:HGNC:5115
See related: Ensembl:ENSG00000182742 MIM:142965; AllianceGenome:HGNC:5115
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; HOX2F; HOX-2.6
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. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 4.1), lung (RPKM 2.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (48575507..48578350, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (49439096..49441939, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (46652869..46655712, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

LINC00629, a HOXB4-downregulated long noncoding RNA, inhibits glycolysis and ovarian cancer progression by destabilizing c-Myc.
Title: LINC00629, a HOXB4-downregulated long noncoding RNA, inhibits glycolysis and ovarian cancer progression by destabilizing c-Myc.
[miRNA-181a-5p inhibits proliferation and migration of osteosarcoma cell line HOS by targeting HOXB4].
Title: [miRNA-181a-5p inhibits proliferation and migration of osteosarcoma cell line HOS by targeting HOXB4].
HOXB4 inhibits the proliferation and tumorigenesis of cervical cancer cells by downregulating the activity of Wnt/beta-catenin signaling pathway.
Title: HOXB4 inhibits the proliferation and tumorigenesis of cervical cancer cells by downregulating the activity of Wnt/β-catenin signaling pathway.
HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.
Title: HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.
our data confirms that CaP growth and chemo-/radioresistance in vivo is associated with over-expression of EpCAM, which serves both a functional biomarker and promising therapeutic target.
Title: MiR-10a and HOXB4 are overexpressed in atypical myeloproliferative neoplasms.
Data suggests that an impaired capacity of eutopic and ectopic endometrial tissue to upregulate levels of HOXB4 during the proliferative phase may play a role in the pathogenesis of endometriosis and that further downregulation of HOXB4 may enhance ectopic implant invasiveness.
Title: HOXB4 Immunoreactivity in Endometrial Tissues From Women With or Without Endometriosis.
Authors observed that induced expression of HOXB4 in the UW473 cell line significantly reduced in vitro cell proliferation and migration capability of UW473 cells with no effect on the in vivo tumorigenicity.
Title: Functional analysis of HOXA10 and HOXB4 in human medulloblastoma cell lines.
Study revealed that HOXB4 was highly expressed in ovarian cancer cells. HOXB4 silencing enhanced the cytotoxic effect of Taxol and DDP by downregulating ABC transporters via inhibition of the PI3K/Akt signaling pathway. These results for the first time elucidated the critical roles and molecular basis of HOXB4 underlying drug resistance in ovarian cancer cells.
Title: HOXB4 knockdown enhances the cytotoxic effect of paclitaxel and cisplatin by downregulating ABC transporters in ovarian cancer cells.
HOXB4 knockout led to downregulation of P-glycoprotein, multidrug resistance-associated protein 1 and breast cancer resistance protein expression and PI3K/Akt signaling activity, suggesting that repression of HOXB4 might be a key point to reverse Multidrug resistance of K562/ADM cells.
Title: HOXB4 knockdown reverses multidrug resistance of human myelogenous leukemia K562/ADM cells by downregulating P-gp, MRP1 and BCRP expression via PI3K/Akt signaling pathway.
This study provides novel evidences of the mechanisms integrating Notch and TNF-alpha signaling in the transcriptional induction of GATA3 and HOXB4.
Title: TNF-alpha and Notch signaling regulates the expression of HOXB4 and GATA3 during early T lymphopoiesis.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hoxb4 (e-PCR), detects polymorphism
- UniSTS:536651

HOXB4_2061 (e-PCR)
- UniSTS:280759

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone marrow 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 hematopoietic stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelial sheet	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 stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic stem cell division	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: homeobox protein Hox-B4

Names: homeo box 2F; homeo box B4; homeobox protein Hox-2.6; homeobox protein Hox-2F

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_024015.5 → NP_076920.1 homeobox protein Hox-B4

Status: REVIEWED

Source sequence(s)

AC103702, AL137449, BC049204

Consensus CDS

CCDS11529.1

UniProtKB/Swiss-Prot

P17483, Q9NTA0

Related

ENSP00000328928.5, ENST00000332503.6

Conserved Domains (1) summary

pfam00046
Location:165 → 218

Homeobox; Homeobox domain