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

HOXB1 Gene

protein-coding   GIFtS: 59
GCID: GC17M046606

Homeobox B1

(Previous name: homeo box B1)
(Previous symbols: HOX2, HOX2I)
  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 B11 2     Homeo Box B11
HOX2I1 2 3 5     HCFP32
HOX21 2     Hox-2.92
Homeobox Protein Hox-2I2 3     Homeobox Protein Hox-B12

External Ids:    HGNC: 51111   Entrez Gene: 32112   Ensembl: ENSG000001200947   OMIM: 1429685   UniProtKB: P146533   

Export aliases for HOXB1 gene to outside databases

Previous GC identifers: GC17M046317 GC17M049087 GC17M046948 GC17M047081 GC17M043961 GC17M041976


(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 HOXB1 Gene:
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of
transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals
possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes,
consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a
cluster on chromosome 17. (provided by RefSeq, Jul 2008)

GeneCards Summary for HOXB1 Gene: 
HOXB1 (homeobox B1) is a protein-coding gene. Diseases associated with HOXB1 include facial paralysis, and bell's palsy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is GSX1.

UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653
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. Acts on the anterior body structures

Gene Wiki entry for HOXB1 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 HOXB1 gene promoter:
         Oct-B1   oct-B2   oct-B3   POU3F2   POU2F2   C/EBPalpha   CHOP-10   POU2F1   FOXO4   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HOXB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HOXB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HOXB1


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

HOXB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXB1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M046606:  view genomic region     (about GC identifiers)

Start:
46,605,888 bp from pter      End:
46,608,359 bp from pter
Size:
2,472 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: HXB1_HUMAN, P14653 (See protein sequence)
Recommended Name: Homeobox protein Hox-B1  
Size: 301 amino acids; 32193 Da
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for HOXB1:
1B72 (3D)    

Explore the universe of human proteins at neXtProt for HOXB1: NX_P14653

Explore proteomics data for HOXB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14653

  • HOXB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HOXB1 Protein Expression
    REFSEQ proteins: NP_002135.2  
    ENSEMBL proteins: 
     ENSP00000355140   ENSP00000459066  

    Human Recombinant Protein Products for HOXB1: 
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals HOXB1 Proteins
    Novus Biologicals HOXB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HOXB1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    HOXB1 for ontologies           About GeneDecksing



    HOXB1 Antibody Products: 
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    Novus Biologicals HOXB1 Antibodies
    Abcam antibodies for HOXB1
    Cloud-Clone Corp. Antibodies for HOXB1 
    Search ThermoFisher Antibodies for HOXB1
    LSBio Antibodies in human, mouse, rat for HOXB1 

    Assay Products for HOXB1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for HOXB1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HOXB1 
    Cloud-Clone Corp. CLIAs for HOXB1


    (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

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P14653

    ProtoNet protein and cluster: P14653

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB001827 Homeobox protein


    UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653
    Similarity: Belongs to the Antp homeobox family. Labial subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    HOXB1 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: HXB1_HUMAN, P14653
    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. Acts on the anterior body structures

         Genatlas biochemistry entry for HOXB1:
    homeo box B1(2I),homologous to mouse Hox-2.9,Drosophila lab

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA10052460
    GO:0003700sequence-specific DNA binding transcription factor activity NAS--
    GO:0019904protein domain specific binding IPI10052460
    GO:0043565sequence-specific DNA binding IEA--
         
    HOXB1 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Hoxb1) (see all 17):
     behavior/neurological  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  immune system  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    HOXB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HOXB1: Hoxb1tm1.1Mist Hoxb1tm3Mrc Hoxb1tm2Mrc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HOXB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HOXB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HOXB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HOXB1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXB1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate HOXB1:
    hsa-miR-3175
    SwitchGear 3'UTR luciferase reporter plasmidHOXB1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of HOXB1

    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXB1
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                         Customized lentivirus expression plasmids for stable overexpression of HOXB1 

    Cell Line
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    Search LifeMap BioReagents cell lines for HOXB1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXB1


    (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

    SuperPaths for HOXB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selected targets of Oct-3/4
    Selected targets of Oct-3/4
    2Neural Crest Differentiation
    Neural Crest Differentiation
    3Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HOXB1
        Selected targets of Oct-3/4

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HOXB1
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 BioSystems Pathway for HOXB1
        Neural Crest Differentiation



    HOXB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HOXB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/20 Interacting proteins for HOXB1 (P146533 ENSP000003551404) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206315P404253I2D: score=1 
    ENSG00000224952P404253I2D: score=1 
    ENSG00000225987P404253I2D: score=1 
    ENSG00000232005P404253I2D: score=1 
    ENSG00000236353P404253I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS10052460
    GO:0007275multicellular organismal development NAS10052460
    GO:0007389pattern specification process TAS10052460
    GO:0009653anatomical structure morphogenesis ----

    HOXB1 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

    HOXB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HOXB1 (HXB1)

    2 Novoseek inferred chemical compound relationships for HOXB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 67 18 9869297 (3), 8631256 (2), 8999919 (2), 1353108 (1) (see all 7)
    retinoid 56.6 1 9006080 (1)

    Search CenterWatch for drugs/clinical trials and news about HOXB1 / HXB1

    (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 HOXB1 gene: 
    NM_002144.3  

    Unigene Cluster for HOXB1:

    Homeobox B1
    Hs.99992  [show with all ESTs]
    Unigene Representative Sequence: BC096193
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000239174(uc002ink.1) ENST00000577092(uc021tzf.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXB1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate HOXB1:
    hsa-miR-3175
    SwitchGear 3'UTR luciferase reporter plasmidHOXB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HOXB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXB1
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    OriGene clones in human, mouse for HOXB1 (see all 6)
    OriGene ORF clones in mouse, rat for HOXB1
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    GenScript: all cDNA clones in your preferred vector: HOXB1 (NM_002144)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXB1
    Sirion Biotech Customized lentivirus for stable overexpression of HOXB1 
                         Customized lentivirus expression plasmids for stable overexpression of HOXB1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HOXB1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HOXB1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HOXB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXB1

    Additional mRNA sequence: 

    BC096191.1 BC096192.1 BC096193.3 BC099633.1 X16666.1 

    2 DOTS entries:

    DT.120964002  DT.102820960 

    2 AceView cDNA sequences:

    NM_002144 X16666 

    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

    HOXB1 expression in normal human tissues (normalized intensities)      HOXB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTCCCCG
    HOXB1 Expression
    About this image


    HOXB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 3 entries
             Posterior Primitive Streak Cells Posterior Primitive Streak
             Primitive Streak
     
     Brain (Nervous System)    fully expand to see all 3 entries
             brain/hindbrain/rhombomere 04   
     
     Neural Ectoderm (Nervous System)    fully expand to see all 2 entries
             Neural Plate
             ectoderm/neural ectoderm/future brain   
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Primordial Germ Cell Precursors Epiblast
             Epiblast Stem Cell line 7
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles

    See HOXB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOXB1

    SOURCE GeneReport for Unigene cluster: Hs.99992
        SABiosciences Expression via Pathway-Focused PCR Arrays including HOXB1: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXB1

    (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 HOXB1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoxb11 , 5 homeobox B11, 5 84.51(n)1
    86.87(a)1
      11 (59.86 cM)5
    154071  NM_008266.51  NP_032292.31 
     963657525 
    chicken
    (Gallus gallus)
    Aves HOXB11 homeobox B1 67.58(n)
    64.6(a)
      395900  XM_003642793.1  XP_003642841.1 
    lizard
    (Anolis carolinensis)
    Reptilia HOXB16
    Uncharacterized protein
    41(a)
    1 ↔ 1
    6(75455961-75466574)
    zebrafish
    (Danio rerio)
    Actinopterygii hoxb1a1 homeo box B1a 55.36(n)
    51.75(a)
      30337  NM_131115.1  NP_571190.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-136
    Homeobox protein ceh-13
    35(a)
    1 → many
    III(7555660-7558208)


    ENSEMBL Gene Tree for HOXB1 (if available)
    TreeFam Gene Tree for HOXB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXB1 gene
    GSX12  HOXA72  HOXA12  HOXB32  HOXD12  HOXA22  HOXB52  HOXC62  
    HOXC52  GSX22  HOXB42  HOXA52  HOXA42  HOXD32  HOXA62  HOXC82  
    HOXA32  HOXD82  HOXB62  HOXB82  HOXD42  HOXB22  PDX12  HOXB72  
    HOXC42  
    18/63 SIMAP similar genes for HOXB1 using alignment to 4 protein entries:     HXB1_HUMAN (see all proteins) (see all similar genes):
    HMX2    HOX B6    HOXC13    HOXD12    HOXD13    HOXA13
    EVX1    GBX1    HOXA10    HOXD11    PITX2    HOXB13
    HOXC9    MNX1    CDX1    HOXA5    DBX2    DLX6

    HOXB1 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

    UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653
    Polymorphism: The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively


    10/111 SNPs in HOXB1 are shown (see all 111)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0687234
    Facial paresis, hereditary congenital, 3 (HCFP3)4--see VAR_0687232 R C mis40--------
    rs1123321111,2
    C,F--47621184(+) GGCCTA/GGAAGG 1 -- ds50012Minor allele frequency- G:0.04CSA WA 120
    rs1166652861,2
    F--47621188(+) TAGAAG/AGGGGA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1835248621,2
    --47621399(+) CCTCTA/GGTCCT 1 -- ds50010--------
    rs1998539181,2
    C--47621556(+) GGGCTA/GGACTG 1 -- ut310--------
    rs2020758411,2
    --47621557(+) GGCTGC/GACTGG 1 -- ut310--------
    rs2010250371,2
    C--47621571(+) GCTCCA/GGTGCC 1 -- ut310--------
    rs1453760061,2
    C,F--47621640(+) CCGGGA/G/TAGGTG 3 Y S F mis12NA EU 5861
    rs1476895551,2
    C,F--47621641(+) CGGGGA/TGGTGC 2 T S mis12Minor allele frequency- T:0.00NA EU 5863
    rs1996156241,2
    --47621651(+) CATGTC/TGACTG 2 S syn10--------

    HapMap Linkage Disequilibrium report for HOXB1 (46605888 - 46608359 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HOXB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833469CNV Loss17160897
    dgv3222n71CNV Loss21882294
    dgv3223n71CNV Loss21882294
    dgv988e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HOXB1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HOXB1
    DNA2.0 Custom Variant and Variant Library Synthesis for HOXB1

    (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: 142968    OMIM disorders: --

    UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653
  • Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]: A form of facial paresis, a disease
    characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral
    facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for HOXB1:    About MalaCards
    facial paralysis    bell's palsy    pharyngitis    paralysis
    autism spectrum disorder    strabismus    teratocarcinoma    thyroiditis
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for HOXB1:
    Facial paralysis     Embryonal carcinoma     Autistic disorder

    HOXB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HOXB1
    Human Genome Epidemiology (HuGE) Navigator: HOXB1 (1 document)

    Export disorders for HOXB1 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 HOXB1 gene, integrated from 9 sources (see all 70):
    (articles sorted by number of sources associating them with HOXB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. (PubMed id 11091361)1, 2, 9 Ingram J.L....Rodier P.M. (2000)
    2. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice. (PubMed id 22770981)1, 2 Webb B.D....Jabs E.W. (2012)
    3. Genome-wide association study reveals multiple loci a ssociated with primary tooth development during infancy. (PubMed id 20195514)1, 4 Pillas D....Jarvelin M.R. (2010)
    4. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. (PubMed id 11840501)1, 4 Li J....Myers R.M. (2002)
    5. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation. (PubMed id 10052460)1, 2 Piper D.E.... Wolberger C. (1999)
    6. A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. (PubMed id 10671062)1, 2 Faiella A....Boncinelli E. (1998)
    7. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (1992)
    8. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    9. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (1989)
    10. Organization of human class I homeobox genes. (PubMed id 2576652)1, 2 Boncinelli E.... Simeone A. (1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3211 HGNC: 5111 AceView: HOXB1 Ensembl:ENSG00000120094 euGenes: HUgn3211
    ECgene: HOXB1 H-InvDB: HOXB1

    (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 HOXB1 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 HOXB1 gene:
    Search GeneIP for patents involving HOXB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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