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

HBB Gene

protein-coding   GIFtS: 63
GCID: GC11M005257

Hemoglobin, Beta

Microbiology & Infectious Diseases Congress
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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
Hemoglobin, Beta1 2     beta-globin2
Hemoglobin Beta Chain2 3     Hemoglobin Subunit Beta2
CD113t-C2     Beta-globin3
Beta Globin Chain2     

External Ids:    HGNC: 48271   Entrez Gene: 30432   Ensembl: ENSG000002447347   OMIM: 1419005   UniProtKB: P688713   

Export aliases for HBB gene to outside databases

Previous GC identifers: GC11M005995 GC11M005548 GC11M005205 GC11M005211 GC11M005203 GC11M005250 GC11M004905


(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 HBB Gene:
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult
hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant
beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of
detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is
5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. (provided by RefSeq, Jul 2008)

GeneCards Summary for HBB Gene: 
HBB (hemoglobin, beta) is a protein-coding gene. Diseases associated with HBB include sickle cell disease, and sickle cell anemia, and among its related super-pathways are Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes and Scavenging of Heme from Plasma. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871
Function: Involved in oxygen transport from the lung to the various peripheral tissues
Function: LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure

Gene Wiki entry for HBB 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_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HBB gene promoter:
         TBP   USF1   C/EBPbeta   FOXD1   IRF-1   FOXO3b   GATA-1   USF-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBB promoter sequence
   Search SABiosciences Chromatin IP Primers for HBB

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


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

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005257:  view genomic region     (about GC identifiers)

Start:
5,246,694 bp from pter      End:
5,250,625 bp from pter
Size:
3,932 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: HBB_HUMAN, P68871 (See protein sequence)
Recommended Name: Hemoglobin subunit beta  
Size: 147 amino acids; 15998 Da
Subunit: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA)
Mass spectrometry: Mass=1310; Method=FAB; Range=33-42; Source=PubMed:1575724;
Miscellaneous: One molecule of 2,3-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer
6/202 PDB 3D structures from and Proteopedia for HBB (see all 202):
1A00 (3D)        1A01 (3D)        1A0U (3D)        1A0Z (3D)        1A3N (3D)        1A3O (3D)    
Secondary accessions: A4GX73 B2ZUE0 P02023 Q13852 Q14481 Q14510 Q45KT0 Q549N7 Q6FI08 Q6R7N2
Q8IZI1 Q9BX96 Q9UCD6 Q9UCP8 Q9UCP9

Explore the universe of human proteins at neXtProt for HBB: NX_P68871

Explore proteomics data for HBB at MOPED 

Post-translational modifications:

  • UniProtKB: Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage. This
    takes place slowly and continuously throughout the 120-day life span of the red blood cell. The rate of glycation
    is increased in patients with diabetes mellitus
  • UniProtKB: S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to allow capture of
    O(2)
  • UniProtKB: Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure. PubMed:16916647 reports the identification of HBB
    acetylated on Lys-145 in the cytosolic fraction of HeLa cells. This may have resulted from contamination of the
    sample
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P68871

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

    HBB Protein Expression
    REFSEQ proteins: NP_000509.1  
    ENSEMBL proteins: 
     ENSP00000333994   ENSP00000369671  
    Reactome Protein details: P68871
    Human Recombinant Protein Products for HBB: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0005833hemoglobin complex TAS1540659
    GO:0031838haptoglobin-hemoglobin complex IDA19740759
    GO:0071682endocytic vesicle lumen TAS--

    HBB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR012292 Globin_dom
     IPR009050 Globin-like
     IPR000971 Globin
     IPR002337 Haemoglobin_b

    Graphical View of Domain Structure for InterPro Entry P68871

    ProtoNet protein and cluster: P68871

    UniProtKB/Swiss-Prot: HBB_HUMAN, P68871
    Similarity: Belongs to the globin family


    HBB 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: HBB_HUMAN, P68871
    Function: Involved in oxygen transport from the lung to the various peripheral tissues
    Function: LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure

         Genatlas biochemistry entry for HBB:
    hemoglobin,beta,adult

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601contributes to peroxidase activity IDA19740759
    GO:0005344oxygen transporter activity NAS11747442
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI10390349
    GO:0019825oxygen binding IDA11747442
         
    HBB for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Hbb):
     cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  normal 
     renal/urinary system  reproductive system  respiratory system  skeleton 

    HBB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HBB: Hbbtm1Unc Hbbtm1Tow

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBB 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HBB About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1O2/CO2 exchange in erythrocytes
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    O2/CO2 exchange in erythrocytes1.00
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    Scavenging of Heme from Plasma0.63
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    4Metabolism
    Metabolism0.40
    5Selenium Pathway
    Selenium Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HBB
        Selenium Pathway
    Folate Metabolism


    5/8        Reactome Pathways for HBB (see all 8)
        Hemostasis
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Factors involved in megakaryocyte development and platelet production
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes


    2         Kegg Pathways  (Kegg details for HBB):
        African trypanosomiasis
    Malaria


    HBB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HBB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/31 Interacting proteins for HBB (P688711, 2, 3 ENSP000003339944) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699051, 2, 3, ENSP000003224214EBI-715554,EBI-714680 MINT-24813 I2D: score=10 STRING: ENSP00000322421
    HBA2P699051, 2, 3, ENSP000002515954EBI-715554,EBI-714680 MINT-24813 I2D: score=10 STRING: ENSP00000251595
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    HBZP020083, ENSP000002529514I2D: score=2 STRING: ENSP00000252951
    UPF3BQ9BZI73, ENSP000002762014I2D: score=1 STRING: ENSP00000276201
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation TAS--
    GO:0008217regulation of blood pressure IEA--
    GO:0010942positive regulation of cell death IDA19740759
    GO:0015671oxygen transport TAS1540659
    GO:0015701bicarbonate transport TAS--

    HBB 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

    HBB for compounds           About GeneDecksing

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

    Browse Tocris compounds for HBB

    3 HMDB Compounds for HBB    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Nitric oxideMononitrogen monoxide (see all 9)10102-43-9--
    OxygenOxygen (see all 5)7782-44-7--

    10 DrugBank Compounds for HBB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Iron DextranDexferrum (see all 2)9004-66-4targetactivator9629498 11752352
    1,3,5-BENZENETRICARBOXYLIC ACID-- --target--10592235
    2,6-DICARBOXYNAPHTHALENE-- --target--10592235
    2-[(2-methoxy-5-methylphenoxy)methyl]pyridine-- --target--10592235
    2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID-- --target--10592235
    2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID-- --target--10592235
    4-Carboxycinnamic Acid-- --target--10592235
    4-[(5-methoxy-2-methylphenoxy)methyl]pyridine-- --target--10592235
    SEBACIC ACID-- --target--10592235
    Heme-- --target----

    10/61 Novoseek inferred chemical compound relationships for HBB gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 56.2 7 7646994 (2), 7865126 (1), 18275000 (1), 18181203 (1) (see all 5)
    porphobilinogen 54.4 6 14715640 (1), 8932385 (1), 8599974 (1), 2052563 (1) (see all 6)
    hmba 45.3 4 12894881 (1), 1557419 (1), 8699328 (1)
    de-oxy 44.9 2 12956772 (1), 1390648 (1)
    23-diphosphoglycerate 43.2 3
    butyrate 40.8 8 7677966 (2), 9763579 (1), 11231050 (1), 7529533 (1) (see all 7)
    valine 40 9 8340379 (1), 16295755 (1), 1985702 (1), 8580853 (1) (see all 9)
    oligonucleotide 38.5 11 20353358 (1), 11233988 (1), 10036232 (1), 17394396 (1) (see all 11)
    oxygen 26.8 14 1427042 (2), 1288540 (1), 11035948 (1), 12621249 (1) (see all 10)
    iron 24.2 10 17135308 (3), 8342561 (1), 8643666 (1), 7493680 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about HBB

    (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,
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    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 HBB gene: 
    NM_000518.4  

    Unigene Cluster for HBB:

    Hemoglobin, beta
    Hs.523443  [show with all ESTs]
    Unigene Representative Sequence: BM811415
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335295(uc001mae.1) ENST00000475226 ENST00000485743 ENST00000380315

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF117710.1 AF181832.1 AF181989.1 AF349114.1 AK311825.1 AY034472.1 AY136510.1 AY509193.1 
    BC007075.1 CR536530.1 CR541913.1 DQ655983.2 DQ655984.2 DQ655985.2 EU694432.1 M11428.1 
    M14574.1 V00497.1 V00500.1 

    22 DOTS entries:

    DT.92476019  DT.92475803  DT.92001318  DT.95088570  DT.100019029  DT.121643030  DT.95259027  DT.95088550 
    DT.100783565  DT.100828006  DT.91767822  DT.92475944  DT.95088583  DT.100749347  DT.100889006  DT.121080183 
    DT.121431039  DT.444756  DT.70104049  DT.95184593  DT.95354546  DT.97855335 

    24/28 AceView cDNA sequences (see all 28):

    CR590940 CR594264 CR603426 CR609101 NM_000518 CR621681 AY509193 V00497 
    M11428 AF181989 AF117710 CR541913 BC007075 CR536530 AY136510 AF349114 
    V00500 AF181832 M14574 M25113 BG940488 BG940364 BG941099 BG940380 

    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

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


    HBB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 10 entries
             Matured erythrocyte-like cells ( Generation and expansion of erythroid cells )
             Cord Blood CD133- Cells   
             bone marrow   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             bone marrow   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood CD133- Cells   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Crescent Cells Cardiac Crescent
             Atrioventricular Node
     
     Colon (Gastrointestinal Tract)
             Appendix   

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

    SOURCE GeneReport for Unigene cluster: Hs.523443

    UniProtKB/Swiss-Prot: HBB_HUMAN, P68871
    Tissue specificity: Red blood cells

        SABiosciences Expression via Pathway-Focused PCR Array including HBB: 
              Embryonic Stem Cells in human mouse rat

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

    This gene was present in the common ancestor of chordates.

    Orthologs for HBB gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hbb5
    Hbb-b11
    hemoglobin beta chain complex5
    hemoglobin, beta adult major chain1
    82.77(n)1
    80.27(a)1
      75
    151291  NM_008220.41  NP_032246.21 
    chicken
    (Gallus gallus)
    Aves HBB6
    GGA.49816
    (see all 5)
    epsilon globin
    (see all 5)
    69(a)
    67(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    1(193723743-193726040)
    1(193720895-193722856)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    61(a)
    22(a)
    1 ↔ many
    possible ortholog
    GL344018.1(38428-41710)
    AAWZ02037681(694-2432)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978712 Xenopus laevis mRNA for larval beta II globin 72.37(n)    X03142.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ba16
    zgc:928806
    (see all 7)
    zgc:92880
    (see all 7)
    51(a)
    50(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    3(55950130-55955982)
    3(55942977-55943592)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HBB gene
    HBE12  HBG22  HBZ2  HBG12  HBD2  HBA22  HBQ12  HBA12  
    HBM2  
    13 SIMAP similar genes for HBB using alignment to 46 protein entries:     HBB_HUMAN (see all proteins):
    beta-globin    HBD/HBB    HBD    HBE1    HBG2    HBG1
    G-gamma    HBA1    HBA2    HBZ    HBM    HBQ1
    CYGB

    HBB 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

    10/931 SNPs in HBB are shown (see all 931)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs16098121,2
    C,F,O,A,Hnon-pathogenic15161384(-) AATATT/CTCTGC 1 -- int125Minor allele frequency- C:0.23MN NS EA NA WA CSA 2885
    rs339854721,2
    Cpathogenic15160958(-) AATAAA/GAAACA 1 -- ut310--------
    rs359491301,2
    Cpathogenic15160959(-) TGCCT-/AATAA 
            
    AAAAC
    1 -- ut310--------
    rs637509541,2
    Cpathogenic15160959(-) TAATAA/G/TAAAAC 2 -- ut310--------
    rs339789071,2
    Cpathogenic15160961(-) CCTAAA/C/TAAAAA 1 -- ut310--------
    rs345026901,2
    Cpathogenic15161130(-) AGTGC-/AGGCTGCC 1 P cds10--------
    rs339105691,2
    Cpathogenic15161132(-) AGTGCA/C/GGGCTG 3 Q P R mis12NA 4
    rs339462671,2
    Cpathogenic15161151(-) GCAAAA/C/G/
            
    AATTC
    4 K Q E * mis1 stg11NA 4552
    rs360159611,2
    Cpathogenic15161171(-) TGTGCT/CGGCCC 2 /P /L mis11Minor allele frequency- C:0.00NA 2
    rs414439471,2
    Cpathogenic15161171(-) GTGTGCT/GGGCCC 2 L G fra10--------

    HapMap Linkage Disequilibrium report for HBB (5246694 - 5250625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HBB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv896929CNV Loss21882294


    Human Gene Mutation Database (HGMD): HBB

    Locus Specific Mutation Databases (LSDB): HBB
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 141900   
    OMIM disorders: 603903  604131  140700  603902  
    UniProtKB/Swiss-Prot: HBB_HUMAN, P68871
  • Heinz body anemias (HEIBAN) [MIM:140700]: Form of non-spherocytic hemolytic anemia of Dacie type 1. After
    splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the
    erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably
    instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the
    Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. Note=The
    disease may be caused by mutations affecting the gene represented in this entry
  • Beta-thalassemia (B-THAL) [MIM:613985]: A form of thalassemia. Thalassemias are common monogenic diseases
    occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an
    imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia,
    while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of
    beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow.
    Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis
    and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is
    transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is
    asymptomatic. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Sickle cell anemia (SKCA) [MIM:603903]: Characterized by abnormally shaped red cells resulting in chronic
    anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are
    round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin
    (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red
    blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Beta-thalassemia, dominant, inclusion body type (B-THALIB) [MIM:603902]: An autosomal dominant form of
    beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked
    morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of
    multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the
    marrow and in the peripheral blood after splenectomy. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/115 diseases for HBB (see all 115):    About MalaCards
    sickle cell disease    sickle cell anemia    thalassemia minor    hemoglobin e - beta-thalassemia
    hemoglobin e disease    heinz body anemias, beta-    hemoglobin sd    sickle cell - beta-thalassemia disease
    hereditary persistence of fetal hemoglobin - sickle cell disease    heinz body anemias, alpha-    sickle cell - hemoglobin d disease    hemoglobin so
    hemoglobin c disease    hemoglobin d disease    hemoglobin c - beta-thalassemia    fetal hemoglobin quantitative trait locus 1
    hemoglobin ss    hemoglobin lepore - beta-thalassemia    thalassemia-beta, dominant inclusion-body    thalassemia

    3 diseases from the University of Copenhagen DISEASES database for HBB:
    Thalassemia     Anemia     Sickle cell anemia

    HBB for disorders           About GeneDecksing

    10/62 Novoseek inferred disease relationships for HBB gene (see all 62)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beta-thalassemia 92.2 113 18413893 (3), 19205976 (2), 20098328 (2), 19608680 (2) (see all 85)
    thalassemia 87.6 53 15946310 (3), 11012251 (2), 10022837 (1), 11559936 (1) (see all 43)
    hemoglobinopathies 85.6 14 8443396 (1), 11475037 (1), 20113284 (1), 1366418 (1) (see all 14)
    intermedia thalassemia 85.1 6 18932071 (2), 20181291 (1), 16304358 (1), 2001456 (1) (see all 5)
    erythroleukemia 83.5 41 8248229 (2), 1993224 (2), 1709381 (2), 9106619 (2) (see all 35)
    sickle cell disease 82 41 7531513 (2), 10721715 (1), 10973828 (1), 11080057 (1) (see all 38)
    alpha-thalassemia 78.6 10 20181291 (2), 9668554 (1), 15946310 (1), 18181203 (1) (see all 9)
    thalassemia major 71.6 6 16304358 (2), 15292064 (1), 16339671 (1), 9668531 (1) (see all 5)
    anemia, hypochromic microcytic 68.1 1 8431522 (1)
    anemia 60.7 16 18410569 (2), 9074425 (1), 16728274 (1), 8980265 (1) (see all 15)

    Genatlas disease: HBB
    methemoglobinemia,hemoglobinopathic type of Hbm (beta) type,erythremia beta,sickle cell
    disease,drepanocytosis,Heinz body anemia,beta,thalassemia,beta

    GeneTests: HBB
    GeneReviews: HBB
    Genetic Association Database (GAD): HBB
    Human Genome Epidemiology (HuGE) Navigator: HBB (148 documents)

    Export disorders for HBB 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 HBB gene, integrated from 9 sources (see all 1194):
    (articles sorted by number of sources associating them with HBB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. (PubMed id 12955718)1, 4, 9 Su Y.N....Hsieh F.J. (2003)
    2. Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations. (PubMed id 18694524)1, 4, 9 Hung C.C....Lin W.L. (2008)
    3. Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. (PubMed id 11857746)1, 4, 9 Colosimo A....Dallapiccola B. (2002)
    4. Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C. (PubMed id 17135308)1, 4, 9 Sartori M....Albano E. (2007)
    5. The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. (PubMed id 20181291)1, 4, 9 Chen W....Xu X. (2010)
    6. Molecular basis of thalassemia intermedia in Iran. (PubMed id 18932071)1, 4, 9 Akbari M.T....Kleanthous M. (2008)
    7. Differing effects of HbS and HbC traits on falciparum malaria, anemia and child growth. (PubMed id 20231425)1, 4, 9 Kreuels B....May J. (2010)
    8. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. (PubMed id 18667698)1, 4, 9 Lettre G....Orkin S.H. (2008)
    9. G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. (PubMed id 18772456)1, 4, 9 Bernaudin F....Delacourt C. (2008)
    10. Molecular analysis of alpha/beta-thalassemia in a southern Chinese population. (PubMed id 17394396)1, 4, 9 Ye B.C....Lei Z. (2007)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3043 HGNC: 4827 AceView: HBB Ensembl:ENSG00000244734 euGenes: HUgn3043
    ECgene: HBB Kegg: 3043 H-InvDB: HBB

    (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 HBB Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBB
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBB
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBB
    Wikipedia http://en.wikipedia.org/wiki/Hemoglobin

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

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



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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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