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Aliases for HOXB5 Gene

Aliases for HOXB5 Gene

  • Homeobox B5 2 3 5
  • Homeobox Protein HHO.C10 3 4
  • Homeobox Protein Hox-2A 3 4
  • Homeobox Protein Hu-1 3 4
  • Homeo Box B5 2 3
  • HOX2A 3 4
  • Homeobox Protein Hox-B5 3
  • Homeo Box 2A 3
  • HHO.C10 3
  • Hox2.1 3
  • HOX2 3
  • HU-1 3

External Ids for HOXB5 Gene

Previous HGNC Symbols for HOXB5 Gene

  • HOX2
  • HOX2A

Previous GeneCards Identifiers for HOXB5 Gene

  • GC17M046379
  • GC17M049149
  • GC17M047010
  • GC17M047143
  • GC17M044023
  • GC17M046668
  • GC17M042037

Summaries for HOXB5 Gene

Entrez Gene Summary for HOXB5 Gene

  • 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 lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXB5 Gene

HOXB5 (Homeobox B5) is a Protein Coding gene. Diseases associated with HOXB5 include Hirschsprung Disease 1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is HOXA5.

UniProtKB/Swiss-Prot for HOXB5 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 HOXB5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXB5 Gene

Genomics for HOXB5 Gene

Regulatory Elements for HOXB5 Gene

Enhancers for HOXB5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F048830 0.2 ENCODE 10.2 -237.5 -237453 2.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 SLC30A9 ZNF207 ZNF143 KLF13 TTLL6 COPZ2 HOXB5 CALCOCO2 FAM117A GC17P048882
GH17F048891 1.1 ENCODE 10.2 -299.5 -299465 4.2 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000266601 ATP5G1 UBE2Z ENSG00000262837 ENSG00000264701 FLJ45513 COPZ2 HOXB5 LOC100419622
GH17F048044 1.2 VISTA ENCODE 10.2 +542.9 542855 13.0 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MRPL45P2 SNX11 ENSG00000266601 COPZ2 ENSG00000253347 SCRN2 CDK5RAP3 ENSG00000264701 KPNB1 CBX1
GH17F048099 0.5 ENCODE 10.2 +492.5 492468 4.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5 SNX11 MRPL45P2 CDK5RAP3 SP6 ENSG00000230532 ENSG00000264701 COPZ2 ENSG00000266601 HOXB5 SUMO2P17
GH17F049413 0.2 ENCODE 10.2 -820.8 -820761 1.9 HDGF MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 COL1A1 HOXB4 HOXB5 CALCOCO2 PHB ENSG00000281126
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HOXB5 on UCSC Golden Path with GeneCards custom track

Promoters for HOXB5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001348221 861 2201 PKNOX1 FEZF1 ZNF48 ZNF2 YY1 GLIS2 ZNF143 KLF7 SP3 YY2

Genomic Location for HOXB5 Gene

Chromosome:
17
Start:
48,591,257 bp from pter
End:
48,593,961 bp from pter
Size:
2,705 bases
Orientation:
Minus strand

Genomic View for HOXB5 Gene

Genes around HOXB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXB5 Gene

Proteins for HOXB5 Gene

  • Protein details for HOXB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09067-HXB5_HUMAN
    Recommended name:
    Homeobox protein Hox-B5
    Protein Accession:
    P09067
    Secondary Accessions:
    • B2RC69
    • P09069
    • Q17RP4

    Protein attributes for HOXB5 Gene

    Size:
    269 amino acids
    Molecular mass:
    29434 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA52681.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HOXB5 Gene

Post-translational modifications for HOXB5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXB5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HOXB5

No data available for DME Specific Peptides for HOXB5 Gene

Domains & Families for HOXB5 Gene

Gene Families for HOXB5 Gene

Suggested Antigen Peptide Sequences for HOXB5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09067

UniProtKB/Swiss-Prot:

HXB5_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with HOXB5: view

Function for HOXB5 Gene

Molecular function for HOXB5 Gene

GENATLAS Biochemistry:
homeo box B5(2A),homologous to mouse Hox-2.1,Drosophila Scr,involved in the positioning of the mouse upper limb bud
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.

Gene Ontology (GO) - Molecular Function for HOXB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with HOXB5: view
genes like me logo Genes that share phenotypes with HOXB5: view

Animal Models for HOXB5 Gene

MGI Knock Outs for HOXB5:

Animal Model Products

miRNA for HOXB5 Gene

miRTarBase miRNAs that target HOXB5

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HOXB5

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXB5 Gene

Localization for HOXB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXB5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXB5 Gene COMPARTMENTS Subcellular localization image for HOXB5 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HOXB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HOXB5: view

Pathways & Interactions for HOXB5 Gene

SuperPathways for HOXB5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOXB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
GO:0009653 anatomical structure morphogenesis TAS 3000607
genes like me logo Genes that share ontologies with HOXB5: view

No data available for Pathways by source and SIGNOR curated interactions for HOXB5 Gene

Transcripts for HOXB5 Gene

mRNA/cDNA for HOXB5 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(63) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HOXB5 Gene

Homeobox B5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HOXB5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOXB5 Gene

No ASD Table

Relevant External Links for HOXB5 Gene

GeneLoc Exon Structure for
HOXB5
ECgene alternative splicing isoforms for
HOXB5

Expression for HOXB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXB5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXB5 Gene

This gene is overexpressed in Colon - Transverse (x9.1), Kidney - Cortex (x6.9), Brain - Spinal cord (cervical c-1) (x5.4), and Small Intestine - Terminal Ileum (x4.1).

Protein differential expression in normal tissues from HIPED for HOXB5 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HOXB5 Gene



Protein tissue co-expression partners for HOXB5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HOXB5 Gene:

HOXB5

SOURCE GeneReport for Unigene cluster for HOXB5 Gene:

Hs.654456

mRNA Expression by UniProt/SwissProt for HOXB5 Gene:

P09067-HXB5_HUMAN
Tissue specificity: Spinal cord.
genes like me logo Genes that share expression patterns with HOXB5: view

Primer Products

Orthologs for HOXB5 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXB5 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia HOXB5 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXB5 34 35
  • 97.65 (n)
rat
(Rattus norvegicus)
Mammalia Hoxb5 34
  • 94.8 (n)
mouse
(Mus musculus)
Mammalia Hoxb5 34 16 35
  • 94.67 (n)
oppossum
(Monodelphis domestica)
Mammalia HOXB5 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXB5 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXB5 34 35
  • 77.27 (n)
lizard
(Anolis carolinensis)
Reptilia HOXB5 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb5 34
  • 74.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia hoxb5-A 34
zebrafish
(Danio rerio)
Actinopterygii hoxb5a 34 35
  • 75 (a)
hoxb5b 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Scr 36
  • 73 (a)
ftz 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for HOXB5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 HOXB5 Gene

ENSEMBL:
Gene Tree for HOXB5 (if available)
TreeFam:
Gene Tree for HOXB5 (if available)

Paralogs for HOXB5 Gene

(10) SIMAP similar genes for HOXB5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HOXB5: view

Variants for HOXB5 Gene

Sequence variations from dbSNP and Humsavar for HOXB5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs111876584 -- 48,593,082(+) CAGAG(-/AAG)GAAAG intron-variant
rs112039992 -- 48,591,772(+) CAACT(A/G)CTGCC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1123630 -- 48,594,454(-) AACAG(C/T)AGTTC intron-variant, upstream-variant-2KB
rs113084182 -- 48,592,459(+) TATCT(A/G)GAGCA intron-variant
rs113520215 -- 48,592,083(+) TATCG(C/T)AACAC intron-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HOXB5 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 HOXB5 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXB5 Gene

Human Gene Mutation Database (HGMD)
HOXB5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXB5 Gene

Disorders for HOXB5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOXB5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards
Search HOXB5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HOXB5

Genetic Association Database (GAD)
HOXB5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXB5
genes like me logo Genes that share disorders with HOXB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXB5 Gene

Publications for HOXB5 Gene

  1. A genome-wide association meta-analysis identifies new childhood obesity loci. (PMID: 22484627) Bradfield J.P. … Grant S.F. (Nat. Genet. 2012) 3 46 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Expression of Hoxb-5 during human lung development and in congenital lung malformations. (PMID: 14632303) Volpe M.V. … Nielsen H.C. (Birth Defects Res. Part A Clin. Mol. Teratol. 2003) 3 22 64
  4. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3 64
  5. Cooperative DNA binding of the highly conserved human Hox 2.1 homeodomain gene product. (PMID: 1355360) Galang C.K. … Hauser C.A. (New Biol. 1992) 3 4 64

Products for HOXB5 Gene

Sources for HOXB5 Gene

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