Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HBE1 Gene

protein-coding   GIFtS: 54
GCID: GC11M005289

hemoglobin, epsilon 1
 Explore 27 diseases affiliated with
HBE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HBE1    

Aliases
for HBE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hemoglobin, Epsilon 11 2     Epsilon-Globin1
HBE1 2 3     Hemoglobin Subunit Epsilon2
Hemoglobin Epsilon Chain2 3     Epsilon-Globin1
Epsilon Globin2     

External Ids:    HGNC: 48301   Entrez Gene: 30462   Ensembl: ENSG000002139317   OMIM: 1421005   UniProtKB: P021003   

Export aliases for HBE1 gene to outside databases

Previous GC identifers: GC11M006037 GC11M005591 GC11M005249 GC11M005214 GC11M005233 GC11M005247 GC11M004949


Summaries
for HBE1 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 HBE1:
The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two
zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with
two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal,
and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the
following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
Function: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin

Gene Wiki entry for HBE1


Genomic Views
for HBE1 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_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HBE1 gene promoter:
         TBP   FOXF2   MEF-2   Lmo2   MEF-2A   NF-AT2   TFIID   aMEF-2   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HBE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBE1


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

HBE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBE1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005289:  view genomic region     (about GC identifiers)

Start:
 5,289,580 bp from pter      End:
 5,526,847 bp from pter
Size:
 237,268 bases      Orientation:
 minus strand

Proteins
for HBE1 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: HBE_HUMAN, P02100 (See protein sequence)
Recommended Name: Hemoglobin subunit epsilon  
Size: 147 amino acids; 16203 Da
Subunit: Heterotetramer of two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two zeta
chains and two epsilon chains in early embryonic hemoglobin Gower-1
1 PDB 3D structure from and Proteopedia for HBE1:
1A9W (3D)    
Secondary accessions: Q6FH44

Explore the universe of human proteins at neXtProt for HBE1: NX_P02100

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02100

    • HBE1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005321.1  
    ENSEMBL proteins: 
     ENSP00000369586   ENSP00000380104   ENSP00000292896  
    Reactome Protein details: P02100
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: HBE1
    OriGene Protein Over-expression Lysate: HBE1
    OriGene Custom Protein Services for HBE1 
    GenScript Custom Purified and Recombinant Proteins Services for HBE1
    Novus Biologicals HBE1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005833hemoglobin complex IEA--


    HBE1 for ontologies           About GeneDecksing



    HBE1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HBE1 
    GenScript Custom Superior Antibodies Services for HBE1
    Search for Antibodies for HBE1 at Abcam  
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for HBE1

    Assay Products for HBE1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HBE1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for HBE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HBE1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR012292 Globin_dom
     IPR009050 Globin-like
     IPR000971 Globin
     IPR002337 Haemoglobin_b

    Graphical View of Domain Structure for InterPro Entry P02100

    ProtoNet protein and cluster: P02100

    1 Blocks protein family: IPB002337 Beta haemoglobin signature

    UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
    Similarity: Belongs to the globin family


    Function
    for HBE1 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: HBE_HUMAN, P02100
    Function: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin

         Genatlas biochemistry entry for HBE1:
    hemoglobin,epsilon 1,embryonic

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBE1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HBE1
    SwitchGear 3'UTR luciferase reporter plasmid: HBE1 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 HBE1
    OriGene shRNA RFP: HBE1
    OriGene siRNA: HBE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBE1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HBE1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HBE1 (NM_005330)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBE1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HBE1
    Search LifeMap BioReagents cell lines for HBE1

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBE1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344oxygen transporter activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0019825oxygen binding IEA--
    GO:0020037heme binding IEA--


    HBE1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for HBE1: Hbb-yHbb-tm2.2Fier Hbb-yHbb-tm1Fier Hbb-yHbb-tm2.1Fier
         2 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hbb-y):
     no phenotypic analysis  normal 

    HBE1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HBE1 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
    1Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    2Expression of globin genes under control of the beta globin control region
    		Expression of globin genes under control of the beta globin control region1.00
    3Platelet activation, signaling and aggregation
    		Hemostasis0.43

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for HBE1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Expression of globin genes under control of the beta globin control region



    HBE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HBE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for HBE1 (P021003 ENSP000002928964) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699053, ENSP000003224214I2D: score=2 STRING: ENSP00000322421
    HBA2P699053, ENSP000002515954I2D: score=2 STRING: ENSP00000251595
    MAFGENSP000003503694STRING: ENSP00000350369
    MAFKENSP000003449034STRING: ENSP00000344903
    NFE2ENSP000003124364STRING: ENSP00000312436
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007596blood coagulation TAS--
    GO:0015671oxygen transport ----


    HBE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HBE1 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

    HBE1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HBE1

    1 HMDB Compound for HBE1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    1 Novoseek chemical compound relationship for HBE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloramphenicol 12.7 1 2236025 (1)

    Search CenterWatch for drugs/clinical trials and news about HBE1 / HBE 

    Transcripts
    for HBE1 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 HBE1 gene: 
    NM_005330.3  

    Unigene Cluster for HBE1:

    Hemoglobin, epsilon 1
    Hs.655195  [show with all ESTs]
    Unigene Representative Sequence: BC015537
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380237(uc001mal.1 uc001mam.1) ENST00000396895 ENST00000292896


    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBE1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HBE1
    SwitchGear 3'UTR luciferase reporter plasmid: HBE1 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 HBE1
    OriGene shRNA RFP: HBE1
    OriGene siRNA: HBE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBE1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HBE1 (NM_005330)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBE1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HBE1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBE1

    Additional cDNA sequence: 

    BC015537.2 CR541912.1 

    7 DOTS entries:

    DT.120723442  DT.95262173  DT.95262172  DT.120723319  DT.309847  DT.100806001  DT.95323075 

    4 AceView cDNA sequences:

    NM_005330 BC015537 BC022184 CR541912 

    GeneLoc Exon Structure


    Expression
    for HBE1 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

    HBE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGACTGGGC

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

    HBE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartMyocardiumCardiac FibroblastsEpicardium
    LimbZeugopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    KidneyMetanephrosKidney
    KidneyRenal VesicleKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)

    See HBE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBE1

    SOURCE GeneReport for Unigene cluster: Hs.655195

    UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
    Tissue specificity: Red blood cells

        SABiosciences Custom PCR Arrays for HBE1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HBE1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBE1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBE1
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBE1

    Orthologs
    for HBE1 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 chordates.

    Orthologs for HBE1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HBG21 hemoglobin, gamma G 75.96(n)
    74.83(a)    		   396485  NM_205489.1  NP_990820.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 65(a)
    		 1 → many
    		 GL344018.1(38428-41710)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia CF781582.12   -- 71.96(n)    CF781582.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii NM_131021.12   -- 75.52(n)   30217  NM_131021.1 


    ENSEMBL Gene Tree for HBE1 (if available)
    TreeFam Gene Tree for HBE1 (if available) 

    Paralogs
    for HBE1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HBE1 gene
    HBG22  CYGB2  HBZ2  HBD2  HBG12  HBA22  HBB2  HBQ12  
    HBA12  HBM2  
    12 SIMAP similar genes for HBE1 using alignment to 3 protein entries:     HBE_HUMAN (see all proteins):
    HBG2    HBB    HBD    HBG1    G-gamma    HBZ
    HBM    HBA2    HBA1    CYGB    HBQ1    MB

    HBE1 for paralogs           About GeneDecksing



    Genomic Variants
    for HBE1 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

    10/120 NCBI SNPs in HBE1 are shown (see all 120)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1112330941,2
    		F--4948421(-) AAAAA-/CAAAAA
                CAAAA     		1 -- ds50011Minor allele frequency- CAAAAA:0.09NS 320
    rs350887701,2
    		C--4948590(+) GAATCC/TTGGAA 1 -- ds50012Minor allele frequency- T:0.00NA 4
    rs1136756181,2
    		C,--4948752(-) AGTAAT/ACAAAA 1 -- ut311Minor allele frequency- A:0.00NS 362
    rs1122112931,2
    		C,--4948753(-) CAGTAA/GTCAAA 1 -- ut311Minor allele frequency- G:0.00NS 362
    rs22131651,2
    		C,F,H--4948848(-) CAGGTG/CTTCCT 1 -- ut317Minor allele frequency- C:0.04EA NA NS 468
    rs30617501,2
    		C,--4949067(-) tgttt-/GTTT  
                tttCA     		1 -- int11Minor allele frequency- GTTT:0.50CSA 2
    rs2019853591,2
    		C--4949087(-) GCCGTG/TTTTGT 1 -- int10--------
    rs2017643741,2
    		C--4949090(-) AAAGCC/TGTTTT 1 -- int10--------
    rs1120403971,2
    		C,--4949436(-) AAAGAA/CAAATA 1 -- int11Minor allele frequency- C:0.00NS 344
    rs1124599591,2
    		C,--4949682(-) ACTAGT/GGACAG 1 -- int11Minor allele frequency- G:0.00NS 340

    HapMap Linkage Disequilibrium report for HBE1 (5289580 - 5526847 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HBE1: --
    Human Gene Mutation Database (HGMD): HBE1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBE1
    DNA2.0 Custom Variant and Variant Library Synthesis for HBE1

    Disorders / Diseases
    for HBE1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HBE1 for disorders           About GeneDecksing

    OMIM gene information: 142100    OMIM disorders: --

    20/27 diseases for HBE1 (see all 27):    About MalaCards
    hereditary persistence of fetal hemoglobin    hemoglobin s beta-thalassemia    beta thalassemia    hydrops fetalis
    membranous glomerulonephritis    sickle cell anemia    thalassemia    hepatitis e
    hepatitis d    ascariasis    trichuriasis    hemoglobinopathy
    liver cirrhosis    hepatitis a    glomerulonephritis    diabetes mellitus
    anemia    hepatitis c    hepatitis    myeloid leukemia

    9 diseases from the University of Copenhagen DISEASES database for HBE1:
    Hepatitis B     Hepatitis     Thalassemia     Liver cirrhosis
    Anemia     Hepatitis A     Hepatitis D     Hepatocellular carcinoma
    Hepatitis E

    1 Novoseek disease relationship for HBE1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 58.2 2 1431310 (2)

    Genetic Association Database (GAD): HBE1
    Human Genome Epidemiology (HuGE) Navigator: HBE1 (5 documents)

    Export disorders for HBE1 gene to outside databases

    Publications
    for HBE1 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 HBE1 gene, integrated from 9 sources (see all 149):
    (articles sorted by number of sources associating them with HBE1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia? (PubMed id 11304851)1, 4 Chan L.C....Chui D.H. (2001)
    3. Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. (PubMed id 11132230)1, 4 Krishnamurti L. (2000)
    4. Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution. (PubMed id 9665850)1, 2 Sutherland-Smith A.J....Baker E.N. (1998)
    5. A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (1989)
    6. Embryonic hemoglobin: sequence of the epsilon and zeta chains. (PubMed id 6172865)1, 2 Clegg J.B. (1981)
    7. The primary structure of the human epsilon-globin gene. (PubMed id 6254663)1, 2 Baralle F.E.... Proudfoot N.J. (1980)
    8. Genomic and phylogenetic footprinting at the epsilon-globin silencer region in intact human cells. (PubMed id 15157738)1, 9 Temple M.D....Murray V. (2004)
    9. Linear distance from the locus control region determines epsilon-globin transcriptional activity. (PubMed id 17548470)1, 9 Shimotsuma M....Tanimoto K. (2007)
    10. Embryonic hemoglobins are expressed in definitive cells. (PubMed id 10381533)1, 9 Luo H.Y....Alter B.P. (1999)

    External Searches for HBE1 gene

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

    Genome Databases showing HBE1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3046 HGNC: 4830 AceView: HBE1 Ensembl:ENSG00000213931 euGenes: HUgn3046
    ECgene: HBE1 H-InvDB: HBE1

    Other Databases showing HBE1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HBE1 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 HBE1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HBE1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HBE1 gene:
    Search GeneIP for patents involving HBE1

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



    Products
    for HBE1 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for HBE1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBE1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBE1  
     OriGene Protein Over-expression Lysate for HBE1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for HBE1   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBE1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for HBE1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HBE1   OriGene Custom Protein Services for HBE1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBE1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBE1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBE1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBE1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBE1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBE1
     GenScript Custom Purified and Recombinant Proteins Services for HBE1 GenScript cDNA clones with any tag delivered in your preferred vector for HBE1
     GenScript Custom Assay Services for HBE1 GenScript Custom Superior Antibodies Services for HBE1
     GenScript Custom overexpressing Cell Line Services for HBE1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HBE1 promoter
     Search Chromatin IP Primers for HBE1
     RT2 qPCR Primer Assay in human, mouse, rat HBE1
     GNC Network for HBE1
     SABiosciences Custom PCR Arrays for HBE1
     Search Tocris compounds for HBE1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HBE1 proteins
     Search for Antibodies for HBE1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for HBE1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for HBE1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBE1
     SwitchGear 3'UTR luciferase reporter plasmids for HBE1
     Browse SwitchGear Promoter luciferase reporter plasmids for HBE1
     Search ThermoFisher Antibodies for HBE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBE1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      HBE1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4