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HOXB1 Gene

protein-coding   GIFtS: 57
GCID: GC17M046606

Homeobox B1

(Previous name: homeo box B1)
(Previous symbols: HOX2, HOX2I)
  See HOXB1-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)
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Aliases
Homeobox B11 2     HCFP32 5
HOX2I1 2 3 5     Homeo Box B11
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hereditary congenital facial paresis 3. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for HOXB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HXB1_HUMAN, P14653 (See protein sequence)
Recommended Name: Homeobox protein Hox-B1  
Size: 301 amino acids; 32193 Da
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


See HOXB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002135.2  
ENSEMBL proteins: 
 ENSP00000355140   ENSP00000459066  

HOXB1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for HOXB1

 
Search eBioscience for Proteins for HOXB1 

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EMD Millipore Mono- and Polyclonal Antibodies for the study of HOXB1
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Search for Antibodies for HOXB1 at Abcam
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LSBio Antibodies in human, mouse, rat for HOXB1

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Cloud-Clone Corp. ELISAs for HOXB1
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Search eBioscience for ELISAs for HOXB1 


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

4 InterPro protein domains:
 IPR020479 Homeobox_metazoa
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 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


Find genes that share domains with HOXB1           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IDA10052460
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0019904protein domain specific binding IPI10052460
GO:0043565sequence-specific DNA binding IEA--
     
Find genes that share ontologies with HOXB1           About GenesLikeMe


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

Find genes that share phenotypes with HOXB1           About GenesLikeMe

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

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXB1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
    
miRTarBase miRNAs that target HOXB1:
hsa-mir-335-5p (MIRT018826), hsa-mir-26b-5p (MIRT030143)

Block miRNA regulation of human, mouse, rat HOXB1 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HOXB1:
hsa-miR-3175
SwitchGear 3'UTR luciferase reporter plasmidHOXB1 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for HOXB1
Predesigned siRNA for gene silencing in human, mouse, rat HOXB1

Gene Editing
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OriGene ORF clones in mouse, rat for HOXB1
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GenScript: all cDNA clones in your preferred vector: HOXB1 (NM_002144)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXB1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXB1
Addgene plasmids for HOXB1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for HOXB1
Browse ESI BIO Cell Lines and PureStem Progenitors for HOXB1 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXB1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HXB1_HUMAN, P14653: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol3

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--
GO:0005737cytoplasm ----

Find genes that share ontologies with HOXB1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for HOXB1 About    
See pathways by source

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

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

1 BioSystems Pathway for HOXB1
    Neural Crest Differentiation


    Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXB1: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    GeneGlobe Interaction Network for HOXB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

Selected Interacting proteins for HOXB1 (P146533 ENSP000003551404) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000206315P404253I2D: score=1 
ENSG00000224952P404253I2D: score=1 
ENSG00000225987P404253I2D: score=1 
ENSG00000232005P404253I2D: score=1 
ENSG00000236353P404253I2D: score=1 
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Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

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

Find genes that share ontologies with HOXB1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



Find genes that share compounds with HOXB1           About GenesLikeMe



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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:
     
Block miRNA regulation of human, mouse, rat HOXB1 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HOXB1:
hsa-miR-3175
SwitchGear 3'UTR luciferase reporter plasmidHOXB1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HOXB1
Predesigned siRNA for gene silencing in human, mouse, rat HOXB1
Clone
Products:
     
OriGene clones in human, mouse for HOXB1 (see all 5)
OriGene ORF clones in mouse, rat for HOXB1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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
Addgene plasmids for HOXB1 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for HOXB1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXB1
  QuantiTect SYBR Green Assays in human, mouse, rat HOXB1
  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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HOXB1 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 9) fully expand
 
 Epiblast (Early Embryo)    fully expand to see all 3 entries
         Primitive Streak Cells Posterior Primitive Streak
         Epiblast Stem Cell line 7
 
 Primitive Streak (Early Embryonic Tissues)
         Primitive Streak Cells Posterior Primitive Streak
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Myoblasts Mandibular Arch Muscles
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
 
 Kidney (Urinary System)
         Metanephric Mesenchyme Cells Metanephric Mesenchyme
HOXB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HOXB1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.99992
    Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXB1: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for HOXB1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXB1
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QuantiFast Probe-based Assays in human, mouse, rat HOXB1
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)
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This gene was present in the common ancestor of animals.

Orthologs for HOXB1 gene from Selected species (see all 13)    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 66.67(n)
62.89(a)
  395900  NM_001080859.2  NP_001074328.2 
lizard
(Anolis carolinensis)
Reptilia HOXB16
homeobox B1
40(a)
1 ↔ 1
6(75455961-75466574)
tropical clawed frog
(Xenopus tropicalis)
Amphibia hoxb11 homeobox B1 59.17(n)
55.36(a)
  100493290  XM_004918662.1  XP_004918719.1 
zebrafish
(Danio rerio)
Actinopterygii hoxb1a1 homeo box B1a 54.11(n)
51.76(a)
  30337  NM_131115.1  NP_571190.1 
fruit fly
(Drosophila melanogaster)
Insecta zen26
zerknullt-related
21(a)
many ↔ many
3R(2568854-2569862)


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)
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Paralogs for HOXB1 gene
GSX12  HOXA32  MEOX12  EVX22  HOXA12  HOXB32  HOXD12  HOXA22  
GSX22  EVX12  HOXB22  MEOX22  PDX12  HOXD32  
Selected 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

Find genes that share paralogs with HOXB1           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
HXB1_HUMAN, P14653: The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively


Selected SNPs for HOXB1 (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
Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 142968   
OMIM disorders: 614744  
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

  • 4 diseases for HOXB1:    
    About MalaCards
    facial paralysis    hereditary congenital facial paresis 3    autistic disorder    autism spectrum disorder

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

    Find genes that share disorders with HOXB1           About GenesLikeMe

    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)
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    PubMed articles for HOXB1 gene, integrated from 10 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. (Teratology 2000)
    2. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice. (PubMed id 22770981)1, 2 Webb B.D....Jabs E.W. (Am. J. Hum. Genet. 2012)
    3. Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. (PubMed id 20195514)1, 4 Pillas D....Jarvelin M.R. (PLoS Genet. 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. (Am. J. Med. Genet. 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. (Cell 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. (Hum. Mutat. 1998)
    7. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (Cell 1992)
    8. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (Genomics 1990)
    9. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (Nucleic Acids Res. 1989)
    10. Organization of human class I homeobox genes. (PubMed id 2576652)1, 2 Boncinelli E.... Simeone A. (Genome 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3211 HGNC: 5111 AceView: HOXB1 Ensembl:ENSG00000120094 euGenes: HUgn3211
    ECgene: HOXB1 H-InvDB: HOXB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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