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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 Ovarian Serous Carcinoma and Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA 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

Additional gene information for HOXB5 Gene

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

Genomics for HOXB5 Gene

GeneHancer (GH) Regulatory Elements for HOXB5 Gene

Promoters and enhancers for HOXB5 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
GH17I048538 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.6 +20.8 20795 68.8 FEZF1 IRF4 YY1 ZNF213 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN HOXB2 HOXB3 HOXB6 HOXB4 HOXB5 PIR47329 PIR34300 UBE2Z SP2 ENSG00000264701
GH17I048623 Promoter/Enhancer 2 EPDnew FANTOM5 ENCODE dbSUPER 2.5 -32.7 -32689 6.4 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 POLR2B ZNF766 CBX5 ZNF213 HOXB9 ENSG00000264701 ENSG00000230532 CDK5RAP3 PRAC2 PRAC1 HOXB13 LOC105371811 HOXB2 HOXB8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HOXB5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HOXB5 gene promoter:

Genomic Locations for HOXB5 Gene

Genomic Locations for HOXB5 Gene
chr17:48,591,257-48,593,961
(GRCh38/hg38)
Size:
2,705 bases
Orientation:
Minus strand
chr17:46,668,619-46,671,323
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for HOXB5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXB5 Gene

Domains & Families for HOXB5 Gene

Gene Families for HOXB5 Gene

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

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 :
  • Belongs to the Antp homeobox family.
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.

Phenotypes From GWAS Catalog for HOXB5 Gene

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 DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity 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:

miRNA for HOXB5 Gene

miRTarBase miRNAs that target HOXB5

Clone Products

  • Addgene plasmids for HOXB5

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
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 HOXB5 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HOXB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005829 cytosol IDA --
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 by RNA polymerase II 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

Drugs & Compounds for HOXB5 Gene

No Compound Related Data Available

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:

Clone Products

  • Addgene plasmids for HOXB5

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 CGAP 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.

Evidence on tissue expression from TISSUES for HOXB5 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with HOXB5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXB5 Gene

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 33 34
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia HOXB5 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXB5 33 34
  • 97.65 (n)
rat
(Rattus norvegicus)
Mammalia Hoxb5 33
  • 94.8 (n)
mouse
(Mus musculus)
Mammalia Hoxb5 33 16 34
  • 94.67 (n)
oppossum
(Monodelphis domestica)
Mammalia HOXB5 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXB5 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXB5 33 34
  • 77.27 (n)
lizard
(Anolis carolinensis)
Reptilia HOXB5 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb5 33
  • 74.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia hoxb5-A 33
zebrafish
(Danio rerio)
Actinopterygii hoxb5a 33 34
  • 75 (a)
hoxb5b 34
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Scr 35
  • 73 (a)
ftz 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000350690 -- 48,592,590(-) C/G intron_variant
rs1000370770 -- 48,593,445(-) C/T coding_sequence_variant, missense_variant
rs1000781882 -- 48,594,727(-) G/C upstream_transcript_variant
rs1000829001 -- 48,591,226(-) C/G downstream_transcript_variant
rs1000845993 -- 48,592,949(-) G/A intron_variant

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)

Additional Variant Information 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

(2) MalaCards diseases for HOXB5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian serous carcinoma
  • ovarian serous adenocarcinoma
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search HOXB5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 JP … Early Growth Genetics Consortium (Nature genetics 2012) 3 44 58
  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 58
  3. Expression of Hoxb-5 during human lung development and in congenital lung malformations. (PMID: 14632303) Volpe MV … Nielsen HC (Birth defects research. Part A, Clinical and molecular teratology 2003) 3 22 58
  4. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3 58
  5. Cooperative DNA binding of the highly conserved human Hox 2.1 homeodomain gene product. (PMID: 1355360) Galang CK … Hauser CA (The New biologist 1992) 3 4 58

Products for HOXB5 Gene

Sources for HOXB5 Gene

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