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

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 Nemaline Myopathy 4. 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

Additional gene information 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 for HOXB6 Gene

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 2.9 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 508.2 +31.7 31702 69 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 USF1 GTF2E2 HOXB2 HOXB3 HOXB6 HOXB4 HOXB5 piR-41301 piR-53330 UBE2Z CDK5RAP3 ENSG00000264701
GH17J048906 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -303.8 -303818 4.4 HNRNPK EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G BCLAF1 GTF2E2 UBE2Z LOC105371814 SUMO2P17 ENSG00000262837 ENSG00000264701 FLJ45513 ENSG00000266601 ATP5MC1 CALCOCO2 CDK5RAP3
GH17J047940 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +663.2 663191 2.4 ZBTB40 ZNF217 NRF1 TCF12 USF1 POLR2G SP1 NCOR1 BCLAF1 RBAK SP2-AS1 PNPO SP6 MRPL45P2 UBE2Z ENSG00000264701 EFCAB13 CDK5RAP3 SP2 ENSG00000266601
GH17J047894 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +708.7 708734 4 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A TCF12 POLR2G SP1 NCOR1 SP2 LOC102724532 ENSG00000266601 KPNB1 CDK5RAP3 CALCOCO2 SKAP1 ENSG00000264701 ENSG00000239291 MRPL45P2
GH17J047828 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +774.6 774579 4.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 LRRC46 MRPL10 lnc-SCRN2-1 MRPL45P2 SCRN2 SP2 ENSG00000266601 EFCAB13 ENSG00000264701 OSBPL7
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HOXB6 Gene
chr17:48,594,095-48,604,992
(GRCh38/hg38)
Size:
10,898 bases
Orientation:
Minus strand
chr17:46,671,639-46,682,354
(GRCh37/hg19)
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

Blocks:
  • Homeobox protein, antennapedia type
InterPro:
ProtoNet:

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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
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:

Animal Model Products

CRISPR Products

miRNA for HOXB6 Gene

miRTarBase miRNAs that target HOXB6

Clone Products

  • Addgene plasmids 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:0000790 nuclear 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

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 IEA --
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 :

CRISPR Products

Clone Products

  • Addgene plasmids 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(4.2)
  • 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 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HOXB6 31 30
  • 94.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxb6 30
  • 91.37 (n)
mouse
(Mus musculus)
Mammalia Hoxb6 17 31 30
  • 91.22 (n)
cow
(Bos Taurus)
Mammalia HOXB6 30
  • 88.45 (n)
oppossum
(Monodelphis domestica)
Mammalia HOXB6 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXB6 31 30
  • 77.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXB6 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb6 30
  • 71.15 (n)
Str.9720 30
zebrafish
(Danio rerio)
Actinopterygii hoxb6a 31 30 30
  • 69.08 (n)
OneToMany
hoxb6b 31
  • 61 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13884 30
fruit fly
(Drosophila melanogaster)
Insecta Antp 31
  • 24 (a)
OneToMany
Species where no ortholog for HOXB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 MISSENSE_VARIANT
rs762346893 Uncertain Significance: not specified 48,598,060(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HOXB6 Gene

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

SNP Genotyping and Copy Number Assay Products

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: DISEASES

Disorder Aliases PubMed IDs
nemaline myopathy 4
  • nem4
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 41 54
  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 54
  3. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3 54
  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 54
  5. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine PJ … Shows TB (Genomics 1990) 2 3 54

Products for HOXB6 Gene