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CA2 Gene

protein-coding   GIFtS: 76
GCID: GC08P086376

Carbonic Anhydrase II

  See 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
Carbonic Anhydrase II1 2 3     Car22
Carbonate Dehydratase II2 3     HEL-762
Carbonic Anhydrase C2 3     Carbonic Anhydrase 22
CA-II2 3     Carbonic Anhydrase B2
CAC2 3     Carbonic Dehydratase2
EC 4.2.1.13 8     Epididymis Luminal Protein 762
CAII2     

External Ids:    HGNC: 13731   Entrez Gene: 7602   Ensembl: ENSG000001042677   OMIM: 6114925   UniProtKB: P009183   

Export aliases for CA2 gene to outside databases

Previous GC identifers: GC08P085200 GC08P086333 GC08P086156 GC08P086450 GC08P086563 GC08P081870


(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 CA2 Gene:
CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible
hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CA2 Gene:
CA2 (carbonic anhydrase II) is a protein-coding gene. Diseases associated with CA2 include osteopetrosis, autosomal recessive 3, with renal tubular acidosis, and osteopetrosis autosomal recessive 3. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA12.

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918
Function: Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of
carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior
chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during
proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6

summary for CA2 Gene:
Carbonic anhydrases are zinc-containing enzymes belonging to the lyases family, and are primarily
responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and
hydrogen (H+) ions. There are several different carbonic anhydrase isoforms; these can be broadly grouped
into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and
membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining
carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX,
has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and
aiding cancer progression. This is thought to occur through the carbonic anhyrase-mediated production of
bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during
hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a
biomarker for hypoxic tumors.

Gene Wiki entry for CA2 (Carbonic anhydrase II) 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:
NC_000008.11  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CA2 gene promoter:
         NF-1/L   NF-1   GATA-3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-1   Evi-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA2 promoter sequence
   Search Chromatin IP Primers for CA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA2


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q21.2   HGNC cytogenetic band: 8q21.2

CA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P086376:  view genomic region     (about GC identifiers)

Start:
86,376,081 bp from pter      End:
86,393,722 bp from pter
Size:
17,642 bases      Orientation:
plus 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, 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., 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: CAH2_HUMAN, P00918 (See protein sequence)
Recommended Name: Carbonic anhydrase 2  
Size: 260 amino acids; 29246 Da
Cofactor: Zinc. Can also use cobalt(II) with lower efficiency, but not copper(II), nickel(II) and manganese(II)
Subunit: Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity. Interacts with
SLC26A6 isoform 4 (via C-terminus cytoplasmic domain)
Miscellaneous: Target of drugs used in treatments against glaucoma disorder and breast cancer
Selected PDB 3D structures from and Proteopedia for CA2 (see all 458):
12CA (3D)        1A42 (3D)        1AM6 (3D)        1AVN (3D)        1BCD (3D)        1BIC (3D)    
Secondary accessions: B2R7G8 Q6FI12 Q96ET9

Explore the universe of human proteins at neXtProt for CA2: NX_P00918

Explore proteomics data for CA2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys18, Lys39, Lys45, Lys80, Lys158, Lys224
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CA2 (P00918) (see all 7)
     QFHFHWG  TYPGSLT  AELHLVH  MVDNWRP 


    See CA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000058.1  
    ENSEMBL proteins: 
     ENSP00000285379   ENSP00000428443   ENSP00000428947  
    Reactome Protein details: P00918

    CA2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA2 (Carbonic Anhydrase II/CA2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CA2
    OriGene Protein Over-expression Lysate for CA2
    OriGene MassSpec for CA2
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    GenScript Custom Purified and Recombinant Proteins Services for CA2
    Novus Biologicals CA2 Proteins
    Novus Biologicals CA2 Lysate
    Sino Biological Recombinant Protein for CA2
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CA2
    Cloud-Clone Corp. Proteins for CA2

    CA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CA2 (Carbonic Anhydrase II/CA2)
    Cell Signaling Technology (CST) Antibodies for CA2 
    OriGene Antibodies for CA2
    OriGene Custom Antibody Services for CA2
    Novus Biologicals CA2 Antibodies
    Abcam antibodies for CA2
    Cloud-Clone Corp. Antibodies for CA2
    ThermoFisher Antibodies for CA2
    LSBio Antibodies in human, mouse, rat for CA2

    CA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CA2
    Cloud-Clone Corp. CLIAs for CA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CA: Carbonic anhydrases

    4 InterPro protein domains:
     IPR001148 Carbonic_anhydrase_a
     IPR018338 Carbonic_anhydrase_a-class_CS
     IPR023561 Carbonic_anhydrase_a-class
     IPR018443 CA2/13

    Graphical View of Domain Structure for InterPro Entry P00918

    ProtoNet protein and cluster: P00918

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918
    Similarity: Belongs to the alpha-carbonic anhydrase family


    CA2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAH2_HUMAN, P00918
    Function: Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of
    carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior
    chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during
    proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Activated by X-ray, histamine, L-adrenaline, L- and D-phenylalanine, L- and D-histidine,
    L-His-OMe and beta-Ala-His (carnosine). Competitively inhibited by saccharin, thioxolone, coumarins, 667-coumate,
    celecoxib (Celebrex), valdecoxib (Bextra), SC-125, SC-560, diclofenac, acetate, azide, bromide, sulfonamide
    derivatives such as acetazolamide (AZA), methazolamide (MZA), ethoxzolamide (EZA), dichlorophenamide (DCP),
    brinzolamide, dansylamide, thiabendazole-5-sulfonamide, trifluoromethane sulfonamide and N-hydroxysulfamide,
    fructose-based sugar sulfamate RWJ-37497, and Foscarnet (phosphonoformate trisodium salt). Repressed strongly by
    hydrogen sulfide(HS) and weakly by nitrate (NO(3)). Esterase activity weakly reduced by cyanamide. N-hydroxyurea
    interfers with zinc binding and inhibit activity
    Biophysicochemical properties: Absorption: Abs(max)=550 nm; Note=At pH 7.0. Shows a second maximum at 618 nm;
    Kinetic parameters: KM=10 mM for CO(2); KM=82 mM for H(2)CO(3); KM=3 mM for 4-nitrophenyl acetate; pH dependence:
    Optimum pH is 6-8;

         Genatlas biochemistry entry for CA2:
    carbonic anhydrase II,cytosolic,ubiquitous

         Enzyme Number (IUBMB): EC 4.2.1.11 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity IEA--
    GO:0005515protein binding IPI15990874
    GO:0008270zinc ion binding IDA3151020
         
    CA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CA2:
     Synthetic lethal with imatinib 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Car2):
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system  renal/urinary system  reproductive system  skeleton 

    CA2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CA2:
    hsa-mir-26a-5p (MIRT050149), hsa-mir-26b-5p (MIRT030094), hsa-mir-99b-3p (MIRT038519)

    Block miRNA regulation of human, mouse, rat CA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CA2 (see all 17):
    hsa-miR-16-2* hsa-miR-3664-5p hsa-miR-29a hsa-miR-29c hsa-miR-23a hsa-miR-330-3p hsa-miR-3688-3p hsa-miR-130a*
    SwitchGear 3'UTR luciferase reporter plasmidCA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CA2
    Predesigned siRNA for gene silencing in human, mouse, rat CA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CA2

    Clone
    Products:
         
    OriGene clones in human, mouse for CA2 (see all 7)
    OriGene ORF clones in mouse, rat for CA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CA2 (NM_212533)
    Sino Biological Human cDNA Clone for CA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CA2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA2


    (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
    CAH2_HUMAN, P00918: Cytoplasm. Cell membrane. Note=Colocalized with SLC26A6 at the surface of the cell membrane
    in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by
    PKC in phorbol myristate acetate (PMA)-induced cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    cytoskeleton2
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IDA114507
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA15990874
    GO:0005902microvillus IEA--

    CA2 for ontologies           About GeneDecksing


    (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 CA2 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Nitrogen metabolism
    Reversible Hydration of Carbon Dioxide0.00
    Nitrogen metabolism
    2O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    3Insulin receptor recycling
    Collecting duct acid secretion0.66
    4Metabolism
    Metabolism0.38
    5Salivary secretion
    Gastric acid secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for CA2
        Neuroscience
    Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for CA2
        Transcription Role of VDR in regulation of genes involved in osteoporosis


    3 Reactome Pathways for CA2
        Erythrocytes take up carbon dioxide and release oxygen
    Reversible hydration of carbon dioxide
    Erythrocytes take up oxygen and release carbon dioxide


    Selected Kegg Pathways  (Kegg details for CA2) (see all 6):
        Nitrogen metabolism
    Proximal tubule bicarbonate reclamation
    Collecting duct acid secretion
    Gastric acid secretion
    Pancreatic secretion


    CA2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CA2
    Interactions:

        GeneGlobe Interaction Network for CA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for CA2 (P009182, 3 ENSP000002853794) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANKZF1Q9H8Y52, 3MINT-65644 I2D: score=3 
    PTCHD2Q9P2K92, 3MINT-63343 I2D: score=3 
    PCNAP120042, 3MINT-7995220 I2D: score=2 
    HSPD1P108093, ENSP000003400194I2D: score=3 STRING: ENSP00000340019
    SLC4A8Q2Y0W83, ENSP000004058124I2D: score=3 STRING: ENSP00000405812
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0006730one-carbon metabolic process IEA--
    GO:0006950response to stress ----
    GO:0009268response to pH IEA--

    CA2 for ontologies           About GeneDecksing



    (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 

    Compounds for CA2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    U 104Potent carbonic anhydrase (CA) IX and XII inhibitor[178606-66-1]

    6 HMDB Compounds for CA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Carbonic acidacid of air (see all 24)463-79-6--
    Hydrochlorothiazide3,4-Dihydrochlorothiazide (see all 89)58-93-5--
    TopiramateEpitomax (see all 5)97240-79-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    ZincZinc (see all 2)7440-66-6--

    Selected DrugBank Compounds for CA2 (see all 96)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dorzolamide-- 120279-96-1targetinhibitor10048009 8875343 8781782 15258186 11752352 8070313 9029437 10614682 12356834
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 19703035 15837316 18162396 18782051 17582922 8494570 18343915
    Brinzolamide-- 138890-62-7targetinhibitor19668749 10665514 9541386 9865942 14684332 14971907 11003159
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor17139284 1901209 19119014 2226620 17016423
    TopiramateTipiramate [French] (see all 3)97240-79-4targetinhibitor17251017 15478125 15771438 12617904 17521680
    ChlorothiazideChlorothiazid (see all 3)58-94-6targetinhibitor10954127 11752352 12388412 14656370
    (4-sulfamoyl-phenyl)-thiocarbamic acid O-(2-thiophen-3-yl-ethyl) ester-- --target--17139284 17016423 10592235
    (R)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamoyl-Benzamide-- --target--17139284 17016423 10592235
    (S)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamoyl-Benzamide-- --target--17139284 17016423 10592235
    1-Methyl-3-Oxo-1,3-Dihydro-Benzo[C]Isothiazole-5-Sulfonic Acid Amide-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for CA2 gene (see all 89)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfonamide 83.2 28 17118494 (2), 8557623 (2), 18179217 (2), 12164389 (1) (see all 19)
    dansylamide 82.9 8 8557623 (3), 8340917 (1), 7696263 (1)
    benzenesulfonamide 79.9 9 11554714 (2), 10354450 (2), 20443227 (1), 14994755 (1) (see all 6)
    p-nitrophenyl acetate 79.5 1 15807537 (1)
    4-carboxybenzenesulfonamide 78.6 2 18179217 (1), 17640087 (1)
    sulfamide 76.3 11 15771438 (3), 18363349 (2), 16759092 (2), 17627576 (2)
    acetazolamide 76.3 32 15183767 (2), 19851004 (2), 2128470 (2), 9445204 (1) (see all 20)
    bicarbonate 75.7 104 12933803 (8), 12372813 (6), 15499994 (5), 11606574 (4) (see all 41)
    667-coumate 75.4 5 14623540 (2), 15453828 (1), 12617909 (1)
    zinc hydroxide 75.3 1 1974931 (1)



    CA2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CA2 gene: 
    NM_000067.2  

    Unigene Cluster for CA2:

    Carbonic anhydrase II
    Hs.155097  [show with all ESTs]
    Unigene Representative Sequence: AK123309
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285379(uc003ydk.2) ENST00000520127 ENST00000520996 ENST00000518231
    ENST00000522742
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CA2 (see all 17):
    hsa-miR-16-2* hsa-miR-3664-5p hsa-miR-29a hsa-miR-29c hsa-miR-23a hsa-miR-330-3p hsa-miR-3688-3p hsa-miR-130a*
    SwitchGear 3'UTR luciferase reporter plasmidCA2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CA2
    Predesigned siRNA for gene silencing in human, mouse, rat CA2
    Clone
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    OriGene clones in human, mouse for CA2 (see all 7)
    OriGene ORF clones in mouse, rat for CA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CA2 (NM_212533)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CA2
    OriGene qSTAR qPCR primer pairs in human, mouse for CA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA2
      QuantiTect SYBR Green Assays in human, mouse, rat CA2
      QuantiFast Probe-based Assays in human, mouse, rat CA2

    Additional mRNA sequence: 

    AK123309.1 AK312978.1 BC011949.1 BC035424.1 CR536526.1 CR541875.1 J03037.1 M36532.1 
    Y00339.1 

    18 DOTS entries:

    DT.95257530  DT.100674288  DT.100822205  DT.100727988  DT.415993  DT.101972566  DT.75155536  DT.100822203 
    DT.100822199  DT.121482821  DT.121482847  DT.121483012  DT.95257523  DT.95257527  DT.99972405  DT.99990999 
    DT.40301241  DT.95151518 

    Selected AceView cDNA sequences (see all 401):

    AV660018 BM794557 J03037 BM790176 CD369005 CD366242 CR591919 CD512171 
    BM791636 AI492357 AA789169 CR602161 CB241277 AA970529 AV651882 CR590312 
    H49706 N50528 CB046106 BI770974 BU660940 CR603817 BU733726 AI365607 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CA2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
    SP1:                          -                       -                                                   
    SP2:                          -                                                                           
    SP3:                          -     -     -           -                                                   
    SP4:                                                                                                      
    SP5:                          -           -     -     -     -     -                                       


    ECgene alternative splicing isoforms for CA2

    (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)
    About This Section

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    CA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCAAGAT
    CA2 Expression
    About this image


    CA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Liver Bud
             Liver Lobule
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             hIPS1
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Bone Marrow
    CA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.155097
        Custom PCR Arrays for CA2
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    QuantiFast Probe-based Assays in human, mouse, rat CA2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for CA2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car21 , 5 carbonic anhydrase 21, 5 81.79(n)1
    81.15(a)1
      3 (3.23 cM)5
    123491  NM_009801.41  NP_033931.41 
     148864265 
    chicken
    (Gallus gallus)
    Aves CA21 carbonic anhydrase II 72.18(n)
    70.77(a)
      396257  NM_205317.1  NP_990648.1 
    lizard
    (Anolis carolinensis)
    Reptilia CA26
    carbonic anhydrase II
    67(a)
    1 ↔ 1
    4(23086113-23106287)
    African clawed frog
    (Xenopus laevis)
    Amphibia ca2-prov2 carbonic anhydrase II 75.85(n)    BC042287.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cahz2 carbonic anhydrase 74.16(n)   30331  NM_131110.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CAH13 carbonate dehydratase 45(a)
    (best of 4)
      34D4   --


    ENSEMBL Gene Tree for CA2 (if available)
    TreeFam Gene Tree for CA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for CA2 gene
    CA122  CA72  CA32  CA62  CA5B2  CA5A2  CA142  CA82  
    CA42  CA12  CA92  CA132  
    17 SIMAP similar genes for CA2 using alignment to 3 protein entries:     CAH2_HUMAN (see all proteins):
    CA13    CA1    CA3    CA7    CA5B    CA5A
    CA8    DKFZp686I20267    CA10    CA11    CA12    CA6
    CA14    PTPRZ1    CA4    CA9    PTPRG

    CA2 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), 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)
    About This Section

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    Selected SNPs for CA2 (see all 391)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0013824
    Osteopetrosis, autosomal recessive 3 (OPTB3)4--see VAR_0013822 H Y mis40--------
    VAR_0210104
    Osteopetrosis, autosomal recessive 3 (OPTB3)4--see VAR_0210102 G R mis40--------
    VAR_0210094
    Osteopetrosis, autosomal recessive 3 (OPTB3)4--see VAR_0210092 H Y mis40--------
    VAR_0013814
    Osteopetrosis, autosomal recessive 3 (OPTB3)4--see VAR_0013812 Q P mis40--------
    rs22280631,2,,4
    C,F,Hpathogenic186489541(+) TGAAGA/GACAGG 2 N D mis1 ese320Minor allele frequency- G:0.03MN NS EA NA CSA WA 6486
    rs340864481,2
    C--81886855(+) TTTTTT/-GTAGA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs105736621,2
    C--86378357(+) ACTGT-/A/AA/ 
     AAA
    /GTA
    AAAAA
    3 -- int1 cds10--------
    rs339281151,2
    C--86378909(+) TACAT-/ACACACA 1 -- int11Minor allele frequency- AC:0.00NA 2
    rs339433971,2
    C--86381066(+) CTTTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1382181921,2
    C--86383039(+) ATTGG-/GGGGGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for CA2 (86376081 - 86393722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831377CNV Gain17160897

    Human Gene Mutation Database (HGMD): CA2
    Locus Specific Mutation Databases (LSDB): CA2

    Site Specific Mutation Identification with PCR Assays
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    (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

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    OMIM gene information: 611492   
    OMIM disorders: 259730  
    UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918
  • Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases
    with mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CA2 (see all 75):    
    About MalaCards
    osteopetrosis, autosomal recessive 3, with renal tubular acidosis    osteopetrosis autosomal recessive 3    multifocal fibrosclerosis    osteopetrosis with renal tubular acidosis
    autoimmune retinopathy    autoimmune pancreatitis    choroid plexus carcinoma    myxopapillary ependymoma
    osteopetrosis    ocular hypotension    renal tubular acidosis    hypoxia
    nephrocalcinosis    portal hypertension    brain disease    metabolic acidosis
    giant cell tumor    sjogren's syndrome    proliferative vitreoretinopathy    ocular hypertension

    4 diseases from the University of Copenhagen DISEASES database for CA2:
    Renal tubular acidosis     Osteopetrosis     Glaucoma     Metabolic acidosis

    CA2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CA2 gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis renal tubular 86.5 39 9525974 (3), 15300855 (3), 1959222 (2), 9323296 (2) (see all 21)
    osteopetrosis 83.3 46 1959222 (3), 1566113 (3), 15300855 (3), 12566520 (2) (see all 26)
    osteopetrosis, autosomal recessive 61.4 3 17936098 (1), 11045400 (1)
    distal renal tubular acidosis 51.1 1 12566520 (1)
    calcification 47.9 30 16825953 (2), 1959222 (2), 15300855 (2), 11264157 (2) (see all 16)
    metabolic acidosis 39.9 2 8285209 (1), 15771438 (1)
    glaucoma 37 8 9541386 (1), 10634490 (1), 2322152 (1), 11021544 (1) (see all 8)
    biliary cirrhosis primary 33.3 12 7768386 (3), 11117577 (2), 15026266 (1), 17516290 (1) (see all 6)
    sjogrens syndrome 33.1 10 15254347 (5), 8613065 (2), 7722336 (1), 15694905 (1)
    chronic pancreatitis 32.7 9 15254347 (5), 8613065 (2), 15831920 (1)

    Genatlas disease: CA2
    osteopetrosis with renal tubular acidosis and cerebral calcifications

    Genetic Association Database (GAD): CA2
    Human Genome Epidemiology (HuGE) Navigator: CA2 (19 documents)

    Export disorders for CA2 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

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    PubMed articles for CA2 gene, integrated from 10 sources (see all 597):
    (articles sorted by number of sources associating them with CA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structures of murine carbonic anhydrase IV and human carbonic anhydrase II complexed with brinzolamide: molecular basis of isozyme- drug discrimination. (PubMed id 9541386)1, 2, 7, 9 Stams T.... Christianson D.W. (Protein Sci. 1998)
    2. Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PubMed id 14736710)1, 2, 9 Loiselle F.B.... Casey J.R. (Am. J. Physiol. 2004)
    3. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. (PubMed id 15300855)1, 2, 9 Shah G.N.... Sly W.S. (Hum. Mutat. 2004)
    4. Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. (PubMed id 15218065)1, 2, 9 Pushkin A.... Kurtz I. (J. Physiol. (Lond.) 2004)
    5. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-->Tyr): complete structure of the normal human CA II gene. (PubMed id 1928091)1, 2, 9 Venta P.J.... Tashian R.E. (Am. J. Hum. Genet. 1991)
    6. Molecular basis of human carbonic anhydrase II deficiency. (PubMed id 1542674)1, 2, 9 Roth D.E.... Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    7. Structural influence of hydrophobic core residues on metal binding and specificity in carbonic anhydrase II. (PubMed id 11076507)1, 2, 9 Cox J.D.... Christianson D.W. (Biochemistry 2000)
    8. Apo-human carbonic anhydrase II revisited: implications of the loss of a metal in protein structure, stability, and solvent network. (PubMed id 19583303)1, 2, 9 Avvaru B.S.... McKenna R. (Biochemistry 2009)
    9. Role of hydrophilic residues in proton transfer during catalysis by human carbonic anhydrase II. (PubMed id 18942852)1, 2, 9 Zheng J.... Silverman D.N. (Biochemistry 2008)
    10. Atomic crystal and molecular dynamics simulation structures of human carbonic anhydrase II: insights into the proton transfer mechanism. (PubMed id 17319692)1, 2, 9 Fisher S.Z.... McKenna R. (Biochemistry 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 760 HGNC: 1373 AceView: CA2 Ensembl:ENSG00000104267 euGenes: HUgn760
    ECgene: CA2 Kegg: 760 H-InvDB: CA2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CA2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CA2 gene:
    Search GeneIP for patents involving CA2

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



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