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CA9 Gene

protein-coding   GIFtS: 72
GCID: GC09P035673

Carbonic Anhydrase IX

Microbiology & Infectious Diseases Congress
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(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 IX1 2 3     CAIX2 3
MN2 3 5     P54/58N2 3
Carbonic Dehydratase1 2     pMW12 3
RCC-Associated Protein G2501 2     RCC-Associated Antigen G2502 3
Carbonate Dehydratase IX2 3     Carbonic Anhydrase 92
Membrane Antigen MN2 3     EC 4.2.1.13
Renal Cell Carcinoma-Associated Antigen G2502 3     G2503
CA-IX2 3     

External Ids:    HGNC: 13831   Entrez Gene: 7682   Ensembl: ENSG000001071597   OMIM: 6031795   UniProtKB: Q167903   

Export aliases for CA9 gene to outside databases

Previous GC identifers: GC09P035986 GC09P035843 GC09P035663 GC09P035629


(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 CA9 Gene:
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of
carbon dioxide. They participate in a variety of biological processes, including respiration, calcification,
acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric
acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a
transmembrane protein and the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all
clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be
involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ
hybridization, however, radiation hybrid mapping localized it to 9p13-p12. (provided by RefSeq, Jul 2008)

GeneCards Summary for CA9 Gene:
CA9 (carbonic anhydrase IX) is a protein-coding gene. Diseases associated with CA9 include horseshoe kidney, and renal cell carcinoma. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA2.

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790
Function: Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of
cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia

summary for CA9 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 CA9 (Carbonic anhydrase 9) 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_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CA9 gene promoter:
         PPAR-alpha   Sp1   p300   Nkx2-5   Tal-1beta   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA9 promoter sequence
   Search Chromatin IP Primers for CA9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA9


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

CA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA9 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P035673:  view genomic region     (about GC identifiers)

Start:
35,673,853 bp from pter      End:
35,681,156 bp from pter
Size:
7,304 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790 (See protein sequence)
Recommended Name: Carbonic anhydrase 9 precursor  
Size: 459 amino acids; 49698 Da
Cofactor: Zinc
Subunit: Forms oligomers linked by disulfide bonds
2 PDB 3D structures from and Proteopedia for CA9:
2HKF (3D)        3IAI (3D)    
Secondary accessions: Q5T4R1

Explore the universe of human proteins at neXtProt for CA9: NX_Q16790

Explore proteomics data for CA9 at MOPED

Post-translational modifications: 

  • Asn-346 bears high-mannose type glycan structures1
  • Glycosylation2 at Thr115, Asn346
  • Modification sites at PhosphoSitePlus

  • See CA9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001207.2  
    ENSEMBL proteins: 
     ENSP00000367608  
    Reactome Protein details: Q16790

    CA9 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA9 (Carbonic Anhydrase IX/CA9)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CA9
    OriGene Protein Over-expression Lysate for CA9
    OriGene MassSpec for CA9
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    Novus Biologicals CA9 Proteins
    Novus Biologicals CA9 Lysates
    Sino Biological Recombinant Protein for CA9
    Sino Biological Cell Lysate for CA9
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CA9

    CA9 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CA9
    R&D Systems Antibodies for CA9 (Carbonic Anhydrase IX/CA9)
    Cell Signaling Technology (CST) Antibodies for CA9 
    OriGene Antibodies for CA9
    OriGene Custom Antibody Services for CA9
    Novus Biologicals CA9 Antibodies
    Abcam antibodies for CA9
    Cloud-Clone Corp. Antibodies for CA9
    ThermoFisher Antibody for CA9
    LSBio Antibodies in human, mouse, rat for CA9

    CA9 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for CA9 (Carbonic Anhydrase IX/CA9)         (see all)
    GenScript Custom Assay Services for CA9
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CA9
    Cloud-Clone Corp. CLIAs for CA9


    (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
     IPR018429 CA9/14
     IPR023561 Carbonic_anhydrase_a-class

    Graphical View of Domain Structure for InterPro Entry Q16790

    ProtoNet protein and cluster: Q16790

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790
    Similarity: Belongs to the alpha-carbonic anhydrase family


    CA9 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: CAH9_HUMAN, Q16790
    Function: Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of
    cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA) and
    Foscarnet (phosphonoformate trisodium salt)
    Biophysicochemical properties: pH dependence: Optimum pH is 6.5;
    Induction: By hypoxia

         Genatlas biochemistry entry for CA9:
    carbonic anhydrase 9,MN/CA antigen expressed in Hela cells and some human carcinomas

         Enzyme Number (IUBMB): EC 4.2.1.11

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    CA9 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CA9:
     Decreased POU5F1-GFP protein e  Increased G1 DNA content  Increased number of mitotic ce  Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Car9):
     digestive/alimentary  endocrine/exocrine gland  mortality/aging 

    CA9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CA9: Car9tm1Lex Car9tm1Spas

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CA9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CA9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA9

    miRNA
    Products:
        
    miRTarBase miRNAs that target CA9:
    hsa-mir-26b-5p (MIRT028954), hsa-mir-98-5p (MIRT027439)

    Block miRNA regulation of human, mouse, rat CA9 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CA9
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CA9
    Predesigned siRNA for gene silencing in human, mouse, rat CA9

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CA9

    Clone
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    OriGene ORF clones in mouse, rat for CA9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA9 (NM_001216)
    Sino Biological Human cDNA Clone for CA9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA9

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CA9 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA9


    (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
    CAH9_HUMAN, Q16790: Nucleus. Nucleus, nucleolus. Cell membrane; Single-pass type I membrane protein. Cell
    projection, microvillus membrane; Single-pass type I membrane protein. Note=Found on the surface microvilli and
    in the nucleus, particularly in nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    extracellular2
    mitochondrion2
    chloroplast1
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0031528microvillus membrane IEA--

    CA9 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 CA9 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nitrogen metabolism
    Reversible Hydration of Carbon Dioxide0.00
    Nitrogen metabolism
    2Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Regulation of Gene Expression by Hypoxia-inducible Factor0.00
    Cellular response to hypoxia1.00
    3Cellular Senescence
    Cellular responses to stress0.81
    4Metabolism
    Metabolism0.38
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for CA9
        Translational Control
    Angiogenesis
    Glucose / Energy Metabolism

    1 BioSystems Pathway for CA9
        HIF-1-alpha transcription factor network


    2 Reactome Pathways for CA9
        Reversible hydration of carbon dioxide
    Regulation of gene expression by Hypoxia-inducible Factor

    1 PharmGKB Pathway for CA9
        Celecoxib Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for CA9):
        Nitrogen metabolism


    CA9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CA9: 
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Necrosis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CA9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for CA9 (Q167903 ENSP000003676084) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNA1P352213, ENSP000003046694I2D: score=2 STRING: ENSP00000304669
    CDH1P128303, ENSP000002617694I2D: score=1 STRING: ENSP00000261769
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    ARNTENSP000003514074STRING: ENSP00000351407
    CREBBPENSP000002623674STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0006730one-carbon metabolic process IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0033574response to testosterone IEA--

    CA9 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 CA9 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    U 104Potent carbonic anhydrase (CA) IX and XII inhibitor[178606-66-1]

    4 HMDB Compounds for CA9    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--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    ZincZinc (see all 2)7440-66-6--

    5 DrugBank Compounds for CA9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 19703035 18782051 17582922
    Benzthiazide-- 91-33-8targetinhibitor19119014
    Ellagic Acid-- 476-66-4targetinhibitor20185318
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor19119014
    HydroflumethiazideDihydroflumethazide (see all 6)135-09-1targetinhibitor19119014

    Selected Novoseek inferred chemical compound relationships for CA9 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pimonidazole 88.2 58 19699082 (5), 16618579 (5), 16242253 (4), 12460928 (4) (see all 18)
    dichlorphenamide 70.4 2 12643899 (1), 12747790 (1)
    vegf 65.8 120 16495697 (9), 12171890 (5), 19619339 (4), 18695901 (4) (see all 46)
    ethoxzolamide 65.3 2 12643899 (1), 12747790 (1)
    methazolamide 63.6 2 12643899 (1), 12747790 (1)
    sulfonamide 62.7 9 17502120 (2), 15012984 (1), 19861127 (1), 12747790 (1) (see all 6)
    brinzolamide 59.9 2 12643899 (1), 12747790 (1)
    iudr 49.9 7 15671533 (2), 18973979 (1), 16618579 (1)
    acetazolamide 48 3 19615903 (1), 12643899 (1), 12747790 (1)
    idurd 47.6 15 15671533 (6), 16618579 (2)



    CA9 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,
    Conferences by KenesGroup, 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 CA9 gene: 
    NM_001216.2  

    Unigene Cluster for CA9:

    Carbonic anhydrase IX
    Hs.63287  [show with all ESTs]
    Unigene Representative Sequence: BC014950
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378357(uc003zxo.4) ENST00000493245 ENST00000485665
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    GenScript: all cDNA clones in your preferred vector: CA9 (NM_001216)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA9
      QuantiTect SYBR Green Assays in human, mouse, rat CA9
      QuantiFast Probe-based Assays in human, mouse, rat CA9

    Additional mRNA sequence: 

    AJ010588.1 BC014950.1 EF122496.1 X66839.1 

    7 DOTS entries:

    DT.208212  DT.100745009  DT.97826490  DT.97837714  DT.100751488  DT.121152882  DT.91730964 

    Selected AceView cDNA sequences (see all 78):

    X66839 BM052696 CR590646 NM_001216 BM052971 BG386425 CR620502 AW449513 
    AI307631 BI964215 BM826222 BI963901 AL558378 AI925646 BM052647 AI791726 
    BM052891 CK903817 AW136118 CR616345 AL554705 AL542336 CR597234 BX401186 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CA9    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
    SP1:                                                                                    
    SP2:                                      -                                             
    SP3:                                                        -                           
    SP4:        -                                                                           


    ECgene alternative splicing isoforms for CA9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CA9 expression in normal human tissues (normalized intensities)      CA9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCCCCTGT
    CA9 Expression
    About this image


    CA9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 3 entries
             stomach 1 ; glandular cells   
             stomach cardiac   
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    CA9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CA9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.63287

    UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790
    Tissue specificity: Expressed primarily in carcinoma cells lines. Expression is restricted to very few normal
    tissues and the most abundant expression is found in the epithelial cells of gastric mucosa

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CA9: 
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Necrosis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CA9
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA9
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CA9 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car91 , 5 carbonic anhydrase 91, 5 79.62(n)1
    73.79(a)1
      4 (23.05 cM)5
    2300991  NM_139305.21  NP_647466.21 
     435069665 
    chicken
    (Gallus gallus)
    Aves CA91 carbonic anhydrase IX 55.05(n)
    46.97(a)
      770004  XM_004937157.1  XP_004937214.1 
    lizard
    (Anolis carolinensis)
    Reptilia CA96
    carbonic anhydrase IX
    57(a)
    1 ↔ 1
    GL343859.1(137096-166485)
    zebrafish
    (Danio rerio)
    Actinopterygii ca91 carbonic anhydrase IX 48.08(n)
    40.12(a)
      566612  XM_689890.5  XP_694982.3 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0134021 AgaP_AGAP013402 48.4(n)
    40.17(a)
      11175669  XM_003436051.1  XP_003436099.1 


    ENSEMBL Gene Tree for CA9 (if available)
    TreeFam Gene Tree for CA9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CA9 gene
    CA22  CA122  CA72  CA32  CA62  CA5B2  CA5A2  CA142  
    CA82  CA42  CA12  CA132  
    5 SIMAP similar genes for CA9 using alignment to 1 protein entry:     CAH9_HUMAN:
    CA6    CA14    CA12    CA2    CA3

    CA9 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)
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    Selected SNPs for CA9 (see all 258)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469662741,2
    C,Funtested135674204(+) GGATCT/CACCTG 2 /P /L mis11Minor allele frequency- C:0.00EU 1215
    rs1378978091,2
    C,Funtested135674208(+) CTACCT/CGGAGA 2 /P syn11Minor allele frequency- C:0.00EU 1219
    rs1849019721,2
    --35672004(+) CCACCA/GCCCTC 1 -- us2k10--------
    rs1907425151,2
    --35672184(+) TACCAA/GAAATA 1 -- us2k10--------
    rs48786261,2
    C,F,A,H--35672236(+) gctacC/Tcagga 1 -- us2k14Minor allele frequency- T:0.50NA WA 8
    rs1483497121,2
    --35672260(+) GAATCA/GCTTGA 1 -- us2k10--------
    rs760853591,2
    C,F--35672300(+) AGATCG/ACGCCA 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1414963171,2
    --35672302(+) ATCGCA/GCCACT 1 -- us2k10--------
    rs1113685061,2
    C--35672345(+) GTCTC-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs799783001,2
    F--35672435(+) ACACTC/ATTCTG 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for CA9 (35673853 - 35681156 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CA9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6528CNV Insertion18451855
    nsv466385CNV Loss19166990
    dgv8168n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CA9
    DNA2.0 Custom Variant and Variant Library Synthesis for CA9

    (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.)
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    OMIM gene information: 603179    OMIM disorders: --

    Selected diseases for CA9 (see all 64):    About MalaCards
    horseshoe kidney    renal cell carcinoma    endolymphatic sac tumor    clear cell renal cell carcinoma
    parametritis    oxyphilic adenoma    cystic teratoma    renal clear cell carcinoma
    sarcomatoid renal cell carcinoma    lymphocytic choriomeningitis    hypoxia    tongue cancer
    breast adenocarcinoma    kidney cancer    papillary renal cell carcinoma    von hippel-lindau disease
    pancreatic endocrine tumors    teratoma    glioblastoma multiforme    ductal carcinoma in situ

    3 diseases from the University of Copenhagen DISEASES database for CA9:
    Renal cell carcinoma     Carcinoma     Oxyphilic adenoma

    CA9 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CA9 gene (see all 46)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal clear cell carcinoma 83.3 31 19539328 (3), 17382701 (3), 15126876 (2), 17947723 (2) (see all 16)
    carcinoma renal cell 78.4 38 17382701 (2), 16905977 (2), 16042714 (1), 15717944 (1) (see all 32)
    metastatic renal cell carcinoma 70.8 6 20393025 (2), 12941820 (1), 19539328 (1), 16648493 (1)
    tumors 66.9 424 16024110 (8), 11522632 (7), 19074859 (6), 16428489 (6) (see all 99)
    renal cancer 63 12 15897568 (4), 12576453 (2), 16310354 (1), 18430120 (1) (see all 5)
    aggressiveness 57.3 1 15935515 (1)
    solid tumor 52.8 6 19679200 (1), 12154057 (1), 16416108 (1), 17724612 (1)
    carcinoma 50.8 55 14572156 (3), 18941400 (3), 9395919 (2), 8084592 (2) (see all 30)
    cancer 46 69 19365853 (5), 19601749 (3), 19022520 (3), 9770531 (2) (see all 40)
    neck cancer 45.7 2 11705854 (2)

    Genetic Association Database (GAD): CA9
    Human Genome Epidemiology (HuGE) Navigator: CA9 (6 documents)

    Export disorders for CA9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CA9 gene, integrated from 10 sources (see all 443):
    (articles sorted by number of sources associating them with CA9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CA9 gene: single nucleotide polymorphism predicts metastatic renal cell carcinoma prognosis. (PubMed id 19539328)1, 4, 9 de Martino M....Belldegrun A.S. (J. Urol. 2009)
    2. Cloning and characterization of MN, a human tumor-associated protein with a domain homologous to carbonic anhydrase and a putative helix- loop-helix DNA binding segment. (PubMed id 8084592)1, 2, 9 Pastorek J.... Kettmann R. (Oncogene 1994)
    3. Molecular cloning and immunogenicity of renal cell carcinoma- associated antigen G250. (PubMed id 10709109)1, 2, 9 Grabmaier K.... Oosterwijk E. (Int. J. Cancer 2000)
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Crystal structure of the catalytic domain of the tumor-associated human carbonic anhydrase IX. (PubMed id 19805286)1, 2 Alterio V.... De Simone G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    7. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    8. Biochemical characterization of CA IX, one of the most active carbonic anhydrase isozymes. (PubMed id 18703501)1, 2 Hilvo M.... Parkkila S. (J. Biol. Chem. 2008)
    9. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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)
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    Entrez Gene: 768 HGNC: 1383 AceView: CA9 Ensembl:ENSG00000107159 euGenes: HUgn768
    ECgene: CA9 Kegg: 768 H-InvDB: CA9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CA9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CA9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CA9 gene:
    Search GeneIP for patents involving CA9

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



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