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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HOXB5 Gene

protein-coding   GIFtS: 54
GCID: GC17M046668

Homeobox B5

(Previous name: homeo box B5)
(Previous symbols: HOX2, HOX2A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Homeobox B51 2     Homeobox Protein Hu-12 3
HOX2A1 2 3 5     HHO.C102
HOX21 2     HU-12
Homeo Box B51 2     Hox2.12
Homeobox Protein HHO.C102 3     Homeo Box 2A2
Homeobox Protein Hox-2A2 3     Homeobox Protein Hox-B52

External Ids:    HGNC: 51161   Entrez Gene: 32152   Ensembl: ENSG000001200757   OMIM: 1429605   UniProtKB: P090673   

Export aliases for HOXB5 gene to outside databases

Previous GC identifers: GC17M046379 GC17M049149 GC17M047010 GC17M047143 GC17M044023 GC17M042037


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 gastroschisis, and congenital diaphragmatic hernia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSX1.

UniProtKB/Swiss-Prot: HXB5_HUMAN, P09067
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 Wiki entry for HOXB5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HOXB5 gene promoter:
         E2F-4   AP-1   AML1a   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHOXB5 promoter sequence
   Search SABiosciences Chromatin IP Primers for HOXB5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HOXB5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.3   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

HOXB5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXB5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M046668:  view genomic region     (about GC identifiers)

Start:
46,668,619 bp from pter      End:
46,671,323 bp from pter
Size:
2,705 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HXB5_HUMAN, P09067 (See protein sequence)
Recommended Name: Homeobox protein Hox-B5  
Size: 269 amino acids; 29434 Da
Subcellular location: Nucleus
Developmental stage: Embryo
Sequence caution: Sequence=AAA52681.1; Type=Erroneous initiation;
Secondary accessions: B2RC69 P09069 Q17RP4

Explore the universe of human proteins at neXtProt for HOXB5: NX_P09067

Explore proteomics data for HOXB5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09067

  • HOXB5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HOXB5 Protein Expression
    REFSEQ proteins: NP_002138.1  
    ENSEMBL proteins: 
     ENSP00000239151  

    Human Recombinant Protein Products for HOXB5: 
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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HOXB5 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    HOXB5 for ontologies           About GeneDecksing



    HOXB5 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    5/6 InterPro protein domains (see all 6):
     IPR001827 Homeobox_Antennapedia_CS
     IPR020479 Homeobox_metazoa
     IPR017995 Homeobox_antennapedia
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain

    Graphical View of Domain Structure for InterPro Entry P09067

    ProtoNet protein and cluster: P09067

    1 Blocks protein domain: IPB001827 Homeobox protein

    UniProtKB/Swiss-Prot: HXB5_HUMAN, P09067
    Similarity: Belongs to the Antp homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    HOXB5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HXB5_HUMAN, P09067
    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 entry for HOXB5:
    homeo box B5(2A),homologous to mouse Hox-2.1,Drosophila Scr,involved in the positioning of the mouse upper limb
    bud

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    HOXB5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HOXB5:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hoxb5):
     nervous system  no phenotypic analysis  skeleton 

    HOXB5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hoxb5tm1Mrc for HOXB5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HOXB5 
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    SwitchGear 3'UTR luciferase reporter plasmidHOXB5 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HOXB5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for HOXB5 (P090673 ENSP000002391514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PBX3P404263I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0009653anatomical structure morphogenesis TAS3000607
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0045446endothelial cell differentiation IEA--

    HOXB5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HOXB5 (HXB5)

    Search CenterWatch for drugs/clinical trials and news about HOXB5 / HXB5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HOXB5 gene: 
    NM_002147.3  

    Unigene Cluster for HOXB5:

    Homeobox B5
    Hs.654456  [show with all ESTs]
    Unigene Representative Sequence: M92299
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000239151(uc002inr.3)
    miRNA
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    hsa-miR-1260b hsa-miR-200a hsa-miR-944 hsa-miR-340 hsa-miR-4267 hsa-miR-141 hsa-miR-7-1* hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidHOXB5 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HOXB5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXB5

    Additional mRNA sequence: 

    AK314964.1 BC004454.1 BC008940.2 BC117247.1 M86726.1 M92299.1 X03794.1 

    3 DOTS entries:

    DT.92434272  DT.411060  DT.70102337 

    24/63 AceView cDNA sequences (see all 63):

    AW138080 BM994836 BF516082 AI052747 BQ001097 BF063905 BE905057 AI970004 
    AW973515 BC008940 BF222398 AI761878 BE790593 BE793940 BM797039 CA440472 
    CB992024 BQ430385 BI766494 AI281340 M92299 BE797469 NM_002147 AI420155 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HOXB5 expression in normal human tissues (normalized intensities)      HOXB5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCTGGCTA
    HOXB5 Expression
    About this image


    HOXB5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 6 entries
             PureStem Progenitor W10
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Distal Mesodermal Progenitor Cells Lung Mesoderm
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Hemangioblasts Posterior Primitive Streak
             PureStem endothelial progenitor 30-SM2-1
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial Progenitor 30-SM2-3
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   

    See HOXB5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOXB5

    SOURCE GeneReport for Unigene cluster: Hs.654456

    UniProtKB/Swiss-Prot: HXB5_HUMAN, P09067
    Tissue specificity: Spinal cord

        SABiosciences Expression via Pathway-Focused PCR Array including HOXB5: 
              Stem Cell Transcription Factors in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HOXB5 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoxb51 , 5 homeobox B51, 5 94.67(n)1
    98.88(a)1
      11 (59.82 cM)5
    154131  NM_008268.21  NP_032294.21 
     963025955 
    chicken
    (Gallus gallus)
    Aves HOXB51 homeobox B5 79.67(n)
    85.23(a)
      425096  NM_001025355.1  NP_001020526.1 
    lizard
    (Anolis carolinensis)
    Reptilia HOXB56
    Uncharacterized protein
    77(a)
    1 ↔ 1
    6(75593542-75596979)
    African clawed frog
    (Xenopus laevis)
    Amphibia hoxb5-A2 homeo box B5 80.06(n)    X07104.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hoxb5a2 homeo box B5a 79.34(n)   30317  NM_131101.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scr1 , 3 midgut development specific RNA
    polymerase II more3
    Sex combs reduced1
    73(a)3
    50.96(n)1
    42.67(a)1
      3 84A53
    408331  NM_206443.21  NP_996165.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXB5 gene
    GSX12  HOXA72  HOXA12  HOXB32  HOXD12  HOXA22  HOXC62  HOXC52  
    GSX22  HOXB42  HOXA52  HOXA42  HOXD32  HOXA62  HOXC82  HOXA32  
    HOXD82  HOXB62  HOXB12  HOXB82  HOXB22  HOXD42  PDX12  HOXB72  
    HOXC42  
    10 SIMAP similar genes for HOXB5 using alignment to 1 protein entry:     HXB5_HUMAN:
    HOXC6    HOXA4    HOXA5    HOXB4    HOXD8    HOXC4
    HOXA7    HOXB7    HOXC5    HOXD4

    HOXB5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section
    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HOXB5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833469CNV Loss17160897
    dgv3222n71CNV Loss21882294
    dgv3223n71CNV Loss21882294
    dgv369n27CNV Loss19166990
    dgv3224n71CNV Loss21882294
    nsv833471CNV Gain17160897
    dgv988e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HOXB5
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HOXB5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 142960    OMIM disorders: --

    15 diseases for HOXB5:    About MalaCards
    gastroschisis    congenital diaphragmatic hernia    vacterl association    acute myeloid leukemia
    hernia    myeloid leukemia    oral squamous cell carcinoma    teratocarcinoma
    leukemia    barrett's esophagus    neuroblastoma    squamous cell carcinoma
    obesity    thyroiditis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for HOXB5:
    Gastroschisis

    HOXB5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HOXB5

    Export disorders for HOXB5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HOXB5 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with HOXB5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association meta-analysis identifies new childhood obesity loci. (PubMed id 22484627)1, 4 Bradfield J.P....Grant S.F. (2012)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Cooperative DNA binding of the highly conserved human Hox 2.1 homeodomain gene product. (PubMed id 1355360)1, 2 Galang C.K. and Hauser C.A. (1992)
    4. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (1992)
    5. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    6. Organization of human class I homeobox genes. (PubMed id 2576652)1, 2 Boncinelli E.... Simeone A. (1989)
    7. A human homoeo box gene specifically expressed in spinal cord during embryonic development. (PubMed id 3453105)1, 2 Simeone A.... Peschle C. (1986)
    8. Expression of homologous homeo-box-containing genes in differentiated human teratocarcinoma cells and mouse embryos. (PubMed id 4075393)1, 2 Hauser C.A....Tjian R. (1985)
    9. Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila. (PubMed id 6091895)1, 2 Levine M.... Tjian R. (1984)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3215 HGNC: 5116 AceView: HOXB5 Ensembl:ENSG00000120075 euGenes: HUgn3215
    ECgene: HOXB5 H-InvDB: HOXB5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HOXB5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HOXB5 gene:
    Search GeneIP for patents involving HOXB5

    GeneCards and IP:
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