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HBG2 Gene

protein-coding   GIFtS: 54

GC11M005230
hemoglobin, gamma G
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
FLJ76540 2
Gamma-2-globin 3
OTTHUMP00000069638 2
methemoglobin 2
Descriptions
G-gamma globin 2
Hb F Ggamma 3
Hemoglobin gamma-2 chain 3
Hemoglobin gamma-G chain 3
abnormal hemoglobin 2
hemoglobin gamma-G 2
hemoglobin, gamma G 2
External Ids
HGNC: 48321
Entrez Gene: 30482
UniProtKB: P698923
Ensembl: ENSG000001965657
Search outside databases for aliases for HBG2 gene

Previous GC identifers: GC11M006018 GC11M005572 GC11M005229 GC11M005216 GC11M005235

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for HBG2:
The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone
marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is
normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related
conditions, gamma chain production continues into adulthood. The two types of gamma chains differ
at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the
A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the
beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'.
[provided by RefSeq]

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

Gene Wiki entry for HBG2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HBG2 gene  

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

HBG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005230:     (about GC identifiers)

Start:
5,230,996 bp from pter
End:
5,623,595 bp from pter
Size:
392,600 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892 (See protein sequence)
Recommended Name: Hemoglobin subunit gamma-2  
Size: 147 amino acids; 16126 Da
Subunit: Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F)
Developmental stage: Expressed until four or five weeks after birth
PDB structures from and Proteopedia :
1FDH (3D)    
Secondary accessions: P02096 P62027 Q68NH9 Q96FH7

Post-translational modifications:

  • Acetylation of Gly-2 converts Hb F to the minor Hb F11
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000175.1  

    ENSEMBL proteins: 
    ENSP00000369597 ENSP00000369609 ENSP00000338082 ENSP00000369602 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for HBG2  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (fetal hemoglobin)
    Browse Abnova for Human Recombinant Proteins
                  OriGene Purified Recombinant Human Protein: HBG2 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005833 hemoglobin complex IEA--
    About this table

    Antibodies for HBG2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (fetal hemoglobin), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibody for HBG2

    Assays for HBG2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    3 InterPro domains/families:
     IPR012292 Globin
     IPR000971 Globin_subset
     IPR002337 Haemoglobin_b


       GeneDecks  HBG2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P69892

    ProtoNet protein and cluster: P69892

    2 Blocks protein families:
    IPB001032 Leghaemoglobin
    IPB002337 Beta haemoglobin signature


    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
    Similarity: Belongs to the globin family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NG_000007

                  Applied Biosystems Silencer® siRNAs for HBG2

                  Sigma-Aldrich siRNA for HBG2  
                         Sigma-Aldrich shRNA for HBG2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for HBG2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000184
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000184
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000184 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000184

    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
    Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

    Genatlas biochemistry entry for HBG2:
    globin,gamma G,fetal (G 136)

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344 oxygen transporter activity IEA--
    GO:0019825 oxygen binding IEA--
    GO:0020037 heme binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for HBG2 (Maps provided by GeneGo):
     IL4 signaling pathway

       GeneDecks  HBG2 for the pathways selected above  
    About GeneDecksing


    2 Interacting proteins for HBG2 (P698922) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699052MINT-24785
    HBA2P699052MINT-24785
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    GO:0015671 oxygen transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HBG2
    10/51 Novoseek chemical compound relationships for HBG2 gene (see all 51 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylene 77.21 49 10397228 (5), 15753496 (2), 14647658 (2), 9776968 (2) (see all 32)
    sodium nitrite 75.48 18 8956097 (2), 2093192 (1), 17065881 (1), 2254586 (1) (see all 16)
    n,n-dimethylhydroxylamine 73.09 1 2156749 (1)
    oxygen 71.23 132 10956082 (3), 14632342 (2), 15753496 (2), 16517943 (2) (see all 98)
    no-dimethylhydroxylamine 69.65 1 11042038 (1)
    nitric oxide 66.46 142 12536266 (6), 10809266 (5), 2093192 (4), 9681784 (4) (see all 73)
    23-diphosphoglycerate 65.71 3 17174731 (1), 1458154 (1)
    cyanide 65.57 40 8956097 (5), 8363114 (3), 2254586 (2), 8353957 (2) (see all 21)
    de-oxy 64.44 6 11841242 (2), 12468537 (1), 12668472 (1), 11916017 (1) (see all 5)
    2-amino-5-methylphenol 63.47 2 1329970 (1), 11286320 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NG_000007

                  Sigma-Aldrich siRNA for HBG2  
                         Sigma-Aldrich shRNA for HBG2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000184  

    REFSEQ mRNAs for HBG2 gene: 

    NM_000184.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000184  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000184
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000184
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000184 

    Additional cDNA sequence: 

    AF110493.1 AK290492.1 BC022184.1 BC029387.1 BC130457.1 BC130459.1 CR593022.1 CR593357.1 
    CR593470.1 CR593826.1 CR594576.1 CR595029.1 CR595535.1 CR599317.1 CR602719.1 CR602897.1 
    CR603041.1 CR604223.1 CR607395.1 CR609361.1 CR610392.1 CR613701.1 CR613883.1 CR615907.1 
    CR616680.1 DQ656066.1 DQ656067.1 M11427.1 M15386.1 X55656.1 X55657.1 

    24/41 DOTS entries (see all 41 ):

    DT.95186195  DT.95221675  DT.98083189  DT.91786228  DT.100890392  DT.95371917  DT.120723250  DT.95180915 
    DT.75131589  DT.91866943  DT.100774732  DT.100806001  DT.95298167  DT.95230852  DT.100044348  DT.91790886 
    DT.95092533  DT.95323075  DT.120723406  DT.91674094  DT.87014143  DT.95233683  DT.95124981  DT.91847199 

    24/50 AceView cDNA sequences (see all 50 ):

    CR603041 CR593357 CR594576 CR613883 X55657 CR602897 CR625875 CR610392 
    CR614139 CR619706 CR626466 CR607395 CR626417 CR615907 CR599317 CR604223 
    CR609361 CR622267 CR613701 CR593022 AF110493 CR602719 NM_000184 CR593470 

    highest scoring ESTs for HBG2:

    AA300241 AA330866 AF075322 AI064859 AI110824 AI114635 AI114744 AI114796 AI114829 AI114839 

    Unigene Cluster for HBG2:

    Hemoglobin, gamma G
    Hs.302145  [show with all ESTs]
    Unigene Representative Sequence: CR616680


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000380247  ENST00000380259  ENST00000336906  ENST00000380252  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HBG2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HBG2

    1 / 2 / 3

    7 probe-sets matching HBG2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38585_at2, 3 U95-A 2 1.00 0.50 1.00 1.00 M91036 0.20 0.50 0.38 1

    204419_x_at2, 3 U133-A 5 1.00 0.46 -- -- NM_000184 0.60 0.83 0.73 1

    213515_x_at2, 3 U133-A 5 1.00 0.43 -- -- AI133353 0.40 0.75 0.60 1

    204848_x_at2, 3 U133-A 5 0.91 0.41 -- -- NM_000559 0.40 0.50 0.45 1

    204419_x_at2 U133Plus2 5 1.00 0.46 -- -- -- -- -- -- --

    213515_x_at2 U133Plus2 5 1.00 0.43 -- -- -- -- -- -- --

    204848_x_at2 U133Plus2 5 0.91 0.41 -- -- -- -- -- -- --
    GeneDecks  HBG2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.302145

    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
    Tissue specificity: Red blood cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HBG2 gene from 3 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    HBG21   -- hemoglobin, gamma G 99.55(n)
    100(a)
    736917  XM_001136242.1  XP_001136242.1 
    rat
    (Rattus norvegicus)
    Hbe21   -- hemoglobin, epsilon 2 78.68(n)
    74.83(a)
    502359  NM_001024805.1  NP_001019976.1 
    rainbow trout
    (Oncorhynchus mykiss)
    BX078477.12   --   -- 74.08(n)  BX078477.1 
    About this table        Species with no ortholog for HBG2

    ENSEMBL Gene Tree for HBG2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HBG2 gene
    HBB2  HBE12  CYGB2  HBG12  HBD2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/70 NCBI SNPs in HBG2 are shown (see all 70 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs28551221,2
    A,C,F,H,O5233812(-) CTGACA/GTCATA 1 -- ng3116Minor allele frequency- G:0.35EU EA WA NA 1620
    --
    rs20110511,2
    A,C,F,H5233394(-) ATCAGA/CCAGCA 1 -- ng315Minor allele frequency- C:0.48MN EU EA WA 596
    rs28551231,2
    A,C,F,H5233654(-) CTGAGT/ATACAG 1 -- ng318Minor allele frequency- A:0.49EU EA WA 838
    rs22367941,2
    A,C5230843(-) ATGTGA/GGTTTT 1 -- ng510--------
    --
    rs107687071,2
    A,C5230498(+) CTCCCC/TGTAGA 1 -- ng510--------
    rs28551211,2
    C5233867(-) TGATAA/GGTTAG 1 -- ng310--------
    --
    rs357208451,2
    F5232813(+) TGCTTGCTT/-  
            
    AATTT
    1 -- ng315Minor allele frequency- -:0.23EU EA NA MN 430
    rs101286531,2
    H5234037(+) TTAAAA/CTAAAA 1 -- ng314Minor allele frequency- C:0.00EU EA WA 382
    --
    rs74821441,2
    C5232745(+) CCAGGA/GACCGT 1 -- ng310--------
    --
    rs18943971,2
    C5232563(-) CTGAGA/GTTATC 1 -- ut51 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for HBG2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 142250   disorders: 141749  

    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892

  • Some gamma variants can cause severe jaundice and cyanosis in premature and new born
    babies
  • 10/60 Novoseek disease relationships for HBG2 gene (see all 60 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    methemoglobinemia 96.11 44 14647658 (2), 9298047 (2), 7931458 (2), 8363684 (1) (see all 35)
    methemoglobinemia acquired 92.48 2 15342970 (1), 10870338 (1)
    sulfhemoglobinemia 82.88 1 15886294 (1)
    methemoglobinemia hereditary 80.88 1 8657061 (1)
    hemolysis 69.76 28 19135990 (2), 18702879 (2), 7679879 (1), 8090078 (1) (see all 20)
    g6pd deficiency 63.68 4 9523930 (2), 1523481 (1)
    sickle cell disease 52.17 3 2393709 (1), 9545536 (1), 18667698 (1)
    hypertension pulmonary 51.15 4 12161242 (1), 11969358 (1), 8771498 (1), 9233741 (1)
    poisoning 51.10 17 8353957 (1), 15208879 (1), 17145698 (1), 2067134 (1) (see all 14)
    anemia hemolytic 47.67 3 12006477 (1), 16132702 (1), 14654534 (1)
    About this table

    Human Gene Mutation Database: HBG2
    Genetic Association Database: HBG2
    Human Genome Epidemiology Navigator: HBG2 (6 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/635 PubMed articles for HBG2 gene (see all 635 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 3048 HGNC: 4832 AceView: HBG2andHBG1 Ensembl:ENSG00000196565 euGenes: HUgn3048
    ECgene: HBG2 H-InvDB: HBG2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HBG2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for HBG2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Proteins for HBG2
     Lentivirus-delivered shRNAs for HBG2 Browse small molecules at Sigma-Aldrich
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