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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)
 Explore 10 diseases affiliated with
HOXB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HOXB1    

Aliases
for HOXB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for HOXB1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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

Proteins
for HOXB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P14653

    • HOXB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002135.2  
    ENSEMBL proteins: 
     ENSP00000355140   ENSP00000459066  

    Human Recombinant Protein Products: 
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    Novus Biologicals HOXB1 Proteins
    Novus Biologicals HOXB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for HOXB1
    Search ThermoFisher Antibodies for HOXB1

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    Uscn ELISAs and CLIAs for HOXB1

    Protein Domains /
    Families
    for HOXB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HOXB1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for HOXB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    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 plasmid: HOXB1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXB1 (see all 4)
    OriGene shRNA RFP: HOXB1
    OriGene siRNA: HOXB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXB1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HOXB1

    Clone
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    GenScript: all cDNA clones in your preferred vector: HOXB1 (NM_002144)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXB1 

    Cell Line
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    Search LifeMap BioReagents cell lines for HOXB1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXB1

    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


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


    Pathways & Interactions
    for HOXB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Selected targets of Oct-3/4
    		Selected targets of Oct-3/41.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/14 Interacting proteins for HOXB1 (P146533 ENSP000003551404) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEIS1O004703, ENSP000002723694I2D: score=2 STRING: ENSP00000272369
    NR3C1P041503, ENSP000002315094I2D: score=1 STRING: ENSP00000231509
    PBX1P404243, ENSP000004058904I2D: score=5 STRING: ENSP00000405890
    PKNOX2Q96KN33, ENSP000002982824I2D: score=2 STRING: ENSP00000298282
    PAX6P263673, ENSP000003684014I2D: score=3 STRING: ENSP00000368401
    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



    Drugs & Compounds
    for HOXB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    2 Novoseek 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 

    Transcripts
    for HOXB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    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 plasmid: HOXB1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXB1 (see all 4)
    OriGene shRNA RFP: HOXB1
    OriGene siRNA: HOXB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXB1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HOXB1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HOXB1
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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


    Expression
    for HOXB1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCTCCCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HOXB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Primitive StreakPosterior Primitive StreakPosterior Primitive Streak CellsEarly Embryo
    EpiblastEpiblastPrimordial Germ Cell PrecursorsGerm Cells
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Primordial germ cell-like cells (Reconstitution of mo...)
    Posterior foregut-like cells (A scalable, suspensi...)

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXB1

    Orthologs
    for HOXB1 gene

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 39(a)
    		 1 ↔ 1
    		 6(75460158-75466299)
    zebrafish
    (Danio rerio)    		 Actinopterygii hoxb1a1 homeo box B1a 55.36(n)
    51.75(a)    		   30337  NM_131115.1  NP_571190.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta lab6
    		 labial
    		 12(a)
    		 1 → many
    		 3R(2487149-2504312)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-136
    		 Homeobox protein ceh-13
    		 26(a)
    		 1 → many
    		 III(7555594-7558142)


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

    Paralogs
    for HOXB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXB1 gene
    GSX12  HOXA72  HOXA12  HOXD12  HOXA22  HOXB32  HOXC62  HOXB52  
    GSX22  HOXC52  HOXB42  HOXA52  HOXA42  HOXD32  HOXA62  HOXC82  
    HOXA32  HOXD82  HOXB62  HOXB82  HOXD42  HOXB22  HOXB72  PDX12  
    HOXC42  
    18/69 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    CDX1    HOXA5    DBX2    MNX1    DLX6

    HOXB1 for paralogs           About GeneDecksing



    Genomic Variants
    for HOXB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/79 NCBI SNPs in HOXB1 are shown (see all 79)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1123321111,2
    		--46606487(+) GGCCTA/GGAAGG 1 -- ds50012Minor allele frequency- G:0.04CSA WA 120
    rs1166652861,2
    		F,--46606491(+) TAGAAG/AGGGGA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1835248621,2
    		--46606702(+) CCTCTA/GGTCCT 1 -- ds50010--------
    rs1998539181,2
    		--46606859(+) GGGCTA/GGACTG 1 -- ut310--------
    rs2020758411,2
    		--46606860(+) GGCTGC/GACTGG 1 -- ut310--------
    rs2010250371,2
    		--46606874(+) GCTCCA/GGTGCC 1 -- ut310--------
    rs1453760061,2
    		C,F,--46606943(+) CCGGGA/G/TAGGTG 3 Y S F mis12NA EU 5861
    rs1476895551,2
    		C,F--46606944(+) CGGGGA/TGGTGC 2 T S mis12Minor allele frequency- T:0.00NA EU 5863
    rs1996156241,2
    		--46606954(+) CATGTC/TGACTG 2 S syn10--------
    rs2017315861,2
    		--46606981(+) GCTGCC/TTCCTT 2 E syn10--------

    HapMap Linkage Disequilibrium report for HOXB1 (46605888 - 46608359 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HOXB1
         1 CNV: 4040
    Human Gene Mutation Database (HGMD): HOXB1

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    Disorders / Diseases
    for HOXB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HOXB1 for disorders           About GeneDecksing

    OMIM gene information: 142968    OMIM disorders: --

    UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653
  • Defects in HOXB1 are the cause of 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

    10 diseases for HOXB1:    About MalaCards
    bell's palsy    facial paralysis    autism spectrum disorder    embryonal carcinoma
    teratocarcinoma    paralysis    pharyngitis    thyroiditis
    carcinoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for HOXB1:
    Facial paralysis     Embryonal carcinoma     Autistic disorder
    Genetic Association Database (GAD): HOXB1
    Human Genome Epidemiology (HuGE) Navigator: HOXB1 (1 document)

    Export disorders for HOXB1 gene to outside databases

    Publications
    for HOXB1 gene

    (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. 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)
    4. 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)
    5. 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)
    6. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (1992)
    7. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    8. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (1989)
    9. Organization of human class I homeobox genes. (PubMed id 2576652)1, 2 Boncinelli E.... Simeone A. (1989)
    10. Specification of distinct motor neuron identities by the singular activities of individual Hox genes. (PubMed id 10331985)1, 9 Jungbluth S....Lumsden A. (1999)

    External Searches for HOXB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HOXB1 gene

    (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

    Other Databases showing HOXB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HOXB1 gene

    (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

    Intellectual Property
    for HOXB1 gene

    (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



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