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CA12 Gene

protein-coding   GIFtS: 59

GC15M040438
carbonic anhydrase XII
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
carbonic anhydrase XII1 2 3     carbonic anhydrase 122
HsT188161 2     FLJ201512
Tumor antigen HOM-RCC-3.1.32 3     carbonic dehydratase2
Carbonate dehydratase XII2 3     CAXII2
CA-XII2 3     EC 4.2.1.13

External Ids:    HGNC: 13711   Entrez Gene: 7712   Ensembl: ENSG000000744107   UniProtKB: O435703   

Export aliases for CA12 gene to outside databases

Previous GC identifers: GC15M059403 GC15M056707 GC15M061195 GC15M061332 GC15M061402 GC15M063613


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

Entrez Gene summary for CA12:
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. This gene
product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas,
and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding
different isoforms have been identified for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
Function: Reversible hydration of carbon dioxide

Gene Wiki entry for CA12

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CA12 gene promoter:
         ATF   TGIF   GR-alpha   GR-beta   Nkx3-1   Nkx3-1 v1   Nkx3-1 v2   Nkx3-1 v3   Nkx3-1 v4   POU2F1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CA12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22

CA12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA12 gene location

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M040438:  view genomic region     (about GC identifiers)

Start:
40,438,444 bp from pter
End:
40,496,766 bp from pter
Size:
58,323 bases
Orientation:
minus strand

1 alternative location:
Chr15- 63,613,577-63,674,360     
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570 (See protein sequence)
Recommended Name: Carbonic anhydrase 12 precursor  
Size: 354 amino acids; 39451 Da
Cofactor: Zinc
Subunit: Homodimer
Subcellular location: Membrane; Single-pass type I membrane protein
PDB structure from and Proteopedia :
1JCZ (3D)    1JD0 (3D)    
Secondary accessions: Q53YE5 Q9BWG2
Alternative splicing: 2 isoforms:  O43570-1   O43570-2   

Explore the universe of human proteins at neXtProt for CA12: NX_O43570 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001209.1  NP_996808.1  


    ENSEMBL proteins: 
    ENSP00000178638 ENSP00000343088 ENSP00000403028 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    R&D Systems Recombinant & Natural Proteins for CA12 (Carbonic Anhydrase XII/CA12)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CA12
    OriGene Protein Over-expression Lysate: CA12
    GenScript Custom Purified and Recombinant Proteins Services for CA12 
    Novus Biologicals Proteins for CA12
    Novus Biologicals Lysates for CA12
    Sino Biological Recombinant Protein for CA12
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    CA12 for ontologies           About GeneDecksing



    Antibodies for CA12: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for CA12
    R&D Systems Antibodies for CA12 (Carbonic Anhydrase XII/CA12)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for CA12 
    Novus Biologicals Antibodies for CA12
    Browse antibodies at Epitomics

    Assays for CA12: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CA12 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CA12 


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

    CA12 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001148 Carbonic_anhydrase_a-class_cat
     IPR018338 Carbonic_anhydrase_a-class_CS
     IPR018430 Carbonic_anhydrase_CA12

    Graphical View of Domain Structure for InterPro Entry O43570

    ProtoNet protein and cluster: O43570

    1 Blocks protein family: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
    Similarity: Belongs to the alpha-carbonic anhydrase family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
    Function: Reversible hydration of carbon dioxide
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA),
    benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester,
    4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium
    salt)
    Biophysicochemical properties: Kinetic parameters: KM=12.0 mM for CO(2);
    Enzyme Number (IUBMB): EC 4.2.1.1 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CA12
    Sigma-Aldrich shRNA for CA12
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CA12
    OriGene shRNA RFP (see all 2): CA12
    OriGene basic RS shRNA (see all 2): CA12
    OriGene siRNA (see all 2): CA12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CA12 
    miRNA:Sigma-Aldrich microRNA Mimics for CA12
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CA12 
    5 SABiosciences Assays for microRNAs that regulate CA12:
    hsa-miR-198 hsa-miR-298 hsa-miR-128 hsa-miR-432 hsa-miR-342-3p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CA12
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CA12
    OriGene untagged cDNA clones in CMV expression vector (see all 3): CA12
    OriGene 3'-UTR clone (see all 2): CA12 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): CA12 
    Sino Biological Human cDNA Clone for CA12

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CA12 

    Genatlas biochemistry entry for CA12:
    carbonic anhydrase XII,39.5kDa,expressed in pancreas,kidney and salivary gland,with a truncated form (tumor associated)
    overexpressed in renal cell carcinomas but not mutated

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089 carbonate dehydratase activity IEA--
    GO:0008270 zinc ion binding IEA--
    GO:0016829 lyase activity IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    CA12 for ontologies           About GeneDecksing

    Animal Models: 1 MGI mutant phenotype (inferred from 1 allele(MGI details for Car12):

    life span-post-weaning/aging

    CA12 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    CA12 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  CA12
        Nitrogen Metabolism

    1 Kegg Pathway  (Kegg details for CA12):
        hsa00910 Nitrogen metabolism

        SABiosciences Custom Pathway-Focused PCR Arrays for CA12 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CA12
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CA12

    5/8 Interacting proteins for CA12 (O435702) via UniProtKB, MINT, and/or STRING (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5C1P365422MINT-63699
    C15orf29Q9H0792MINT-65435
    CUX1P398802MINT-64664
    LGALS7P479292MINT-63767
    LGALS7BP479292
    About this table

    1 Gene Ontology (GO) biological process term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730 one-carbon metabolic process IEA--
    About this table

    CA12 for ontologies           About GeneDecksing



    (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

    CA12 for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for CA12:
    Small Molecule - Inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CA12
    3 Novoseek chemical compound relationships for CA12 gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bicarbonate 44.5 1 11140614 (1)
    zinc 30.8 2 18451179 (1)
    estrogen 9.31 7 18451179 (4)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CA12
    Sigma-Aldrich shRNA for CA12
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CA12
    OriGene shRNA RFP (see all 2): CA12
    OriGene basic RS shRNA (see all 2): CA12
    OriGene siRNA (see all 2): CA12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CA12 
    miRNA: Sigma-Aldrich microRNA Mimics for CA12
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CA12 
    5 SABiosciences Assays for microRNAs that regulate CA12:
    hsa-miR-198 hsa-miR-298 hsa-miR-128 hsa-miR-432 hsa-miR-342-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CA12
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CA12
    OriGene untagged cDNA clones in CMV expression vector (see all 3): CA12
    OriGene 3'-UTR Clone (see all 2): CA12 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): CA12 
    Primers: OriGene genome-wide validated SYBR primer pairs: CA12
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CA12: PPH02378A

    REFSEQ mRNAs for CA12 gene (2 alternative transcripts): 

    NM_001218.3  NM_206925.1  

    Additional cDNA sequence: 

    AF037335.1 AF051882.1 AK000158.1 AK096845.1 AK315769.1 BC000278.1 BC001012.2 BC011691.2 
    BC023981.1 BC087838.1 BT006656.1 CR618639.1 

    10 DOTS entries:

    DT.92046497  DT.40209873  DT.95165688  DT.95165695  DT.121014771  DT.121014736  DT.121014753  DT.75156831 
    DT.95165690  DT.100790214 

    24/289 AceView cDNA sequences (see all 289):

    AI335165 AI200550 CA309380 BQ000949 AI469604 AA953925 AI572667 AI302627 
    CK570342 CN482423 BU956110 BQ421859 BE251498 BM929416 AA962472 AA505873 
    BM564808 CR618639 AL711206 CB120648 NM_001218 BF813655 BM479639 AW510455 

    highest scoring ESTs for CA12:

    AF037335 AF051882 AK096845 AU099181 AU143438 AU143756 BC000278 BC011691 BC023981 BE253216 

    Unigene Cluster for CA12:

    Carbonic anhydrase XII
    Hs.210995  [show with all ESTs]
    Unigene Representative Sequence: NM_001218


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CA12 (see all 6)

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
    SP1:                                                              -           -                                 
    SP2:                                                              -           -     -                           
    SP3:        -     -                                                                                             
    SP4:                                                                                                            
    SP5:                                                                                -                           

    About this scheme

    ECgene alternative splicing isoforms for CA12
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000178638(uc002amc.2 uc002amd.2 uc002ame.2) ENST00000344366
    ENST00000422263

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CA12 expression in normal and diseased human tissues

    1  / 2  / 3

    17 probe-sets matching CA12 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36454_at2, 3 U95-A 1 1.00 1.00 0.98 0.65 AF037335 1.00 1.00 1.00 1
    35275_at2, 3 U95-A 1 0.69 1.00 0.99 1.21 AL050025 0.20 0.33 0.27 1
    64285_at2, 3 U95-C 1 0.31 1.00 0.96 1.27 AI050855 0.60 1.00 0.82 1
    203963_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001218 0.60 1.00 0.82 1
    210735_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC000278 0.80 1.00 0.91 1
    204508_s_at2, 3 U133-A 1 0.91 1.00 -- -- BC001012 0.60 1.00 0.82 1
    215867_x_at2, 3 U133-A 1 0.91 1.00 -- -- AL050025 0.20 0.33 0.27 1
    214164_x_at2, 3 U133-A 1 0.73 1.00 -- -- BF752277 0.60 1.00 0.82 1
    204509_at2, 3 U133-A 1 0.55 1.00 -- -- NM_017689 0.20 1.00 0.72 1
    241230_at2 U133-B 1 0.46 1.00 -- -- -- -- -- -- --
    203963_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    210735_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    204508_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    215867_x_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    214164_x_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    204509_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
    241230_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table

    CA12 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CA12 gene expression
    CA12 gene electronic northern expression
    CA12 gene sage expression
    About these images

    CGAP SAGE TAG: TGCTGCATTG

    SOURCE GeneReport for Unigene cluster: Hs.210995

    Expression variation in blood from EXPOLDB for CA12

    UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
    Tissue specificity: Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much
    higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas,
    ovary and testis

    Primers: OriGene genome-wide validated SYBR primer pairs: CA12
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CA12: PPH02378A
        SABiosciences Custom PCR Arrays for CA12 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CA12 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CA121   -- carbonic anhydrase XII 85.48(n)
    83.7(a)
    478333  XM_535507.2  XP_535507.2 
    chimpanzee
    (Pan troglodytes)
    CA121   -- carbonic anhydrase XII 99.44(n)
    99.72(a)
    467701  XM_001173904.1  XP_001173904.1 
    cow
    (Bos taurus)
    CA121   -- carbonic anhydrase XII 82.58(n)
    78.81(a)
    614323  XM_865785.2  XP_870878.2 
    rat
    (Rattus norvegicus)
    Car121   -- carbonic anyhydrase 12 82.34(n)
    81.3(a)
    363085  XM_343416.3  XP_343417.2 
    mouse
    (Mus musculus)
    Car121 , 5 9 (36.09 cM)5
    carbonic anyhydrase 121, 5 84.04(n)1
    82.15(a)1
    764591  NM_178396.31  NP_848483.21 
     AI3149585  AK0098735  (see all 15)
    About this table        Species with no ortholog for CA12

    ENSEMBL Gene Tree for CA12 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for CA12 gene
    CA62  CA42  CA112  CA92  CA102  CA142  

    CA12 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/632 NCBI SNPs in CA12 are shown (see all 632)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs4952021,2
    H63653679(-) agatgC/Atagta 2 -- int14Minor allele frequency- A:0.00NS EA 412
    rs4963661,2
    H63634954(-) aaattC/Ataagc 2 -- int14Minor allele frequency- A:0.00NS EA 410
    rs4999631,2
    H63632648(-) TCTCTC/ATAGGC 2 -- int17Minor allele frequency- A:0.00EA NA NS 478
    rs5446851,2
    F,H63664190(-) ACACTT/CTTCGG 2 -- int18Minor allele frequency- C:0.00EA NA NS 654
    rs5449221,2
    --63653730(+) gtgcaG/Cgacag 2 -- int13Minor allele frequency- C:0.00EA NA 52
    rs5594441,2
    --63664183(+) ATATAC/TCCCGA 2 -- int10--------
    rs5594451,2
    --63664184(+) TATACA/CCCGAA 2 -- int10--------
    rs7263511,2
    C,F,A,63655303(-) CTGGGA/GCCCAG 2 -- int111Minor allele frequency- G:0.10NS EA WA 536
    rs7289031,2
    C,F,A,H,63664075(-) caaacT/Caaaac 2 -- int19Minor allele frequency- C:0.32NA EA WA 222
    rs7289041,2
    C,F,A,63664116(-) TCTGAT/CAGCTT 2 -- int117Minor allele frequency- C:0.16NS EA NA WA 1476
    About this table

    HapMap Linkage Disequilibrium images for CA12 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CA12: --

    QIAGEN SeqTarget long-range PCR primers for resequencing CA12 

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

    CA12 for disorders           About GeneDecksing

    OMIM: 603263   disorders: 143860  

    8 Novoseek disease relationships for CA12 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 51.6 3 9770531 (1), 9636197 (1), 11101628 (1)
    colorectal tumors 43.7 2 10666387 (2)
    tumors 33.6 36 19118021 (5), 11238039 (4), 18322268 (4), 15849821 (2) (see all 13)
    breast cancer 25 5 18451179 (3), 20434230 (1)
    cancer 24.8 21 11121027 (3), 11238039 (3), 9770531 (1), 15849821 (1) (see all 10)
    metastasis 2.31 1 16416108 (1)
    necrosis 0 3 11238049 (3)
    carcinoma 0 1 11101628 (1)
    About this table


    Export disorders and mutations for CA12 gene to outside databases

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

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/55 PubMed articles for CA12 gene, integrated from 7 sources (see all 55):
    (articles sorted by number of sources associating them with CA12)
    1. Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers. (PubMed id 9636197)1, 2, 3, 7 Tuereci O.... Sly W.S. (1998)
    2. Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes. (PubMed id 9770531)1, 2, 7 Ivanov S.V.... Lerman M.I. (1998)
    3. Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells. (PubMed id 11493685)1, 2, 7 Whittington D.A.... Christianson D.W. (2001)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma. (PubMed id 12676895)1, 7 Liao S.Y....Lerman M.I. (2003)
    6. Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. (PubMed id 18322268)1, 7 Haapasalo J....Parkkila A.K. (2008)
    7. Expression of transmembrane carbonic anhydrases, CAIX and CAXII, in human development. (PubMed id 19291313)1, 7 Liao S.Y....Stanbridge E.J. (2009)
    8. Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. (PubMed id 18451179)1, 7 Barnett D.H....Katzenellenbogen B.S. (2008)
    9. Expression of the transmembrane carbonic anhydrases, CA IX and CA XII, in the human male excurrent ducts. (PubMed id 11420383)1, 7 Karhumaa P....Rajaniemi H. (2001)
    10. Expression of the membrane-associated carbonic anhydrase isozyme XII in the human kidney and renal tumors. (PubMed id 11101628)1, 7 Parkkila S....Rajaniemi H. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 771 HGNC: 1371 AceView: CA12 Ensembl:ENSG00000074410 euGenes: HUgn771
    ECgene: CA12 Kegg: 771 H-InvDB: CA12

    (According to HUGE)
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for CA12 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for CA12 gene:
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