This gene is a member of the Antp homeobox family and encodes a 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, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. ... See more...

Aliases for HOXB6 Gene

Aliases for HOXB6 Gene

  • Homeobox B6 2 3 5
  • Homeobox Protein Hox-2.2 3 4
  • Homeobox Protein Hox-B6 3 4
  • Homeobox Protein Hox-2B 3 4
  • Homeobox Protein Hu-2 3 4
  • Homeo Box B6 2 3
  • HOX2B 3 4
  • Homeo Box 2B 3
  • Hox-2.2 3
  • HOXB6 5
  • HOX2 3
  • HU-2 3

External Ids for HOXB6 Gene

Previous HGNC Symbols for HOXB6 Gene

  • HOX2
  • HOX2B

Previous GeneCards Identifiers for HOXB6 Gene

  • GC17M046384
  • GC17M049153
  • GC17M047015
  • GC17M047147
  • GC17M044028
  • GC17M046673
  • GC17M042041
  • GC17M048594
  • GC17M048603
  • GC17M048612

Summaries for HOXB6 Gene

Entrez Gene Summary for HOXB6 Gene

  • This gene is a member of the Antp homeobox family and encodes a 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, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXB6 Gene

HOXB6 (Homeobox B6) is a Protein Coding gene. Diseases associated with HOXB6 include Colorectal Cancer. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXA6.

UniProtKB/Swiss-Prot Summary for HOXB6 Gene

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Gene Wiki entry for HOXB6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXB6 Gene

Genomics for HOXB6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOXB6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J048538 Promoter/Enhancer 2.8 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.2 +31.8 31826 68.8 BCLAF1 ZNF654 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZNF580 ZNF592 ATF2 HOXB2 HOXB3 HOXB-AS1 HOXB-AS3 HOXB6 HOXB4 HOXB5 piR-41301 piR-53330 ENSG00000264701
GH17J048906 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -303.8 -303818 4.4 BCLAF1 NCOR1 MYC IKZF1 ZNF600 SSRP1 ZNF580 KLF9 POLR2A NFIC UBE2Z HSALNG0117135 HSALNG0117136 HSALNG0117137 LOC105371814 SUMO2P17 ENSG00000262837 ENSG00000264701 ENSG00000204584 ENSG00000266601
GH17J047941 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +663.2 663170 2 SP1 MYC IKZF1 ZNF600 SSRP1 JUND ZNF580 ZNF592 ZMYM3 ATF2 HSALNG0117046 PNPO SP2-AS1 SP6 MRPL45P2 UBE2Z SP2 EFCAB13 CDK5RAP3 ENSG00000264701
GH17J047894 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +708.7 708734 4 SP1 ZNF207 MYC ZNF600 IKZF1 SSRP1 ZNF580 ATF2 KLF9 POLR2A SP2 SP2-DT ENSG00000266601 CALCOCO2 CDK5RAP3 SKAP1 ENSG00000264701 KPNB1 EFCAB13 MRPL45P2
GH17J047828 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +774.6 774579 4.4 SP1 ZNF207 MYC ZNF600 ZNF580 POLR2A ZNF223 NFIC ZBTB10 YY1 LRRC46 MRPL10 lnc-SCRN2-1 MRPL45P2 SCRN2 SP2 RPS2P47 ENSG00000266601 EFCAB13 ENSG00000264701
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXB6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXB6

Top Transcription factor binding sites by QIAGEN in the HOXB6 gene promoter:
  • AML1a
  • AP-1
  • E2F

Genomic Locations for HOXB6 Gene

Latest Assembly
chr17:48,595,736-48,604,992
(GRCh38/hg38)
Size:
9,257 bases
Orientation:
Minus strand

Previous Assembly
chr17:46,673,113-46,682,348
(GRCh37/hg19 by Entrez Gene)
Size:
9,236 bases
Orientation:
Minus strand

chr17:46,671,639-46,682,354
(GRCh37/hg19 by Ensembl)
Size:
10,716 bases
Orientation:
Minus strand

Genomic View for HOXB6 Gene

Genes around HOXB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXB6 Gene

Proteins for HOXB6 Gene

  • Protein details for HOXB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17509-HXB6_HUMAN
    Recommended name:
    Homeobox protein Hox-B6
    Protein Accession:
    P17509
    Secondary Accessions:
    • A8K835
    • D3DTV5
    • P09068
    • Q9HB11
    • Q9UGH2

    Protein attributes for HOXB6 Gene

    Size:
    224 amino acids
    Molecular mass:
    25432 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HOXB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOXB6 Gene

Post-translational modifications for HOXB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXB6 Gene

No data available for DME Specific Peptides for HOXB6 Gene

Domains & Families for HOXB6 Gene

Gene Families for HOXB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXB6 Gene

Suggested Antigen Peptide Sequences for HOXB6 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hu-2 (HXB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17509

UniProtKB/Swiss-Prot:

HXB6_HUMAN :
  • Belongs to the Antp homeobox family.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with HOXB6: view

Function for HOXB6 Gene

Molecular function for HOXB6 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
GENATLAS Biochemistry:
homeo box B6(2B),homologous to mouse Hox-2.2,Drosophila Antp,Ubx,abd-A,expressed during early myelopoiesis

Phenotypes From GWAS Catalog for HOXB6 Gene

Gene Ontology (GO) - Molecular Function for HOXB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0003723 RNA binding HDA 22681889
genes like me logo Genes that share ontologies with HOXB6: view
genes like me logo Genes that share phenotypes with HOXB6: view

Animal Models for HOXB6 Gene

MGI Knock Outs for HOXB6:

miRNA for HOXB6 Gene

miRTarBase miRNAs that target HOXB6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXB6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXB6 Gene

Localization for HOXB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXB6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOXB6 gene
Compartment Confidence
nucleus 5
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HOXB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with HOXB6: view

Pathways & Interactions for HOXB6 Gene

PathCards logo

SuperPathways for HOXB6 Gene

No Data Available

SIGNOR curated interactions for HOXB6 Gene

Inactivates:
Other effect:

Gene Ontology (GO) - Biological Process for HOXB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0009952 anterior/posterior pattern specification IBA 21873635
GO:0034101 erythrocyte homeostasis IEA --
genes like me logo Genes that share ontologies with HOXB6: view

No data available for Pathways by source for HOXB6 Gene

Drugs & Compounds for HOXB6 Gene

No Compound Related Data Available

Transcripts for HOXB6 Gene

mRNA/cDNA for HOXB6 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXB6

Alternative Splicing Database (ASD) splice patterns (SP) for HOXB6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b
SP1: - - -
SP2:
SP3:

Relevant External Links for HOXB6 Gene

GeneLoc Exon Structure for
HOXB6

Expression for HOXB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXB6 Gene

This gene is overexpressed in Kidney - Cortex (x9.8), Colon - Transverse (x7.5), and Cervix - Endocervix (x4.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXB6

SOURCE GeneReport for Unigene cluster for HOXB6 Gene:

Hs.98428

Evidence on tissue expression from TISSUES for HOXB6 Gene

  • Intestine(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with HOXB6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXB6 Gene

Orthologs for HOXB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXB6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HOXB6 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HOXB6 29 30
  • 94.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hoxb6 29
  • 91.37 (n)
Mouse
(Mus musculus)
Mammalia Hoxb6 29 16 30
  • 91.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HOXB6 29
  • 88.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia HOXB6 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HOXB6 29 30
  • 77.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HOXB6 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hoxb6 29
  • 71.15 (n)
Str.9720 29
Zebrafish
(Danio rerio)
Actinopterygii hoxb6a 29 30
  • 69.08 (n)
OneToMany
hoxb6b 30
  • 61 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13884 29
Fruit Fly
(Drosophila melanogaster)
Insecta Antp 30
  • 24 (a)
OneToMany
Species where no ortholog for HOXB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HOXB6 Gene

ENSEMBL:
Gene Tree for HOXB6 (if available)
TreeFam:
Gene Tree for HOXB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXB6: view image
Alliance of Genome Resources:
Additional Orthologs for HOXB6

Paralogs for HOXB6 Gene

(12) SIMAP similar genes for HOXB6 Gene using alignment to 1 proteins:

  • HXB6_HUMAN
genes like me logo Genes that share paralogs with HOXB6: view

Variants for HOXB6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXB6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs756724993 Uncertain Significance: not specified 48,596,652(-) C/T
NM_018952.5(HOXB6):c.436G>A (p.Gly146Ser)
MISSENSE
rs762346893 Uncertain Significance: not specified 48,598,060(-) C/T
NM_018952.5(HOXB6):c.91G>A (p.Gly31Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HOXB6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HOXB6 Gene

Variant ID Type Subtype PubMed ID
dgv369n27 CNV loss 19166990
dgv5676n54 CNV loss 21841781
esv2758694 CNV gain 17122850
nsv833469 CNV loss 17160897
nsv833471 CNV gain 17160897

Variation tolerance for HOXB6 Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXB6 Gene

Human Gene Mutation Database (HGMD)
HOXB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXB6
Leiden Open Variation Database (LOVD)
HOXB6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXB6 Gene

Disorders for HOXB6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOXB6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search HOXB6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HOXB6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HOXB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXB6 Gene

Publications for HOXB6 Gene

  1. Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias. (PMID: 17003840) Chen T … Shen Y (European journal of human genetics : EJHG 2007) 3 40
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3
  4. Alternative splicing of the HOX 2.2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues. (PMID: 1672751) Shen WF … Largman C (Nucleic acids research 1991) 3 4
  5. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine PJ … Shows TB (Genomics 1990) 2 3

Products for HOXB6 Gene

Sources for HOXB6 Gene