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CA12 Gene

protein-coding   GIFtS: 70
GCID: GC15M063613

Carbonic Anhydrase XII

  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 XII1 2 3     HsT188162
Carbonate Dehydratase XII2 3     Carbonic Anhydrase 122
Tumor Antigen HOM-RCC-3.1.32 3     Carbonic Dehydratase2
CA-XII2 3     EC 4.2.1.13
CAXII2     

External Ids:    HGNC: 13711   Entrez Gene: 7712   Ensembl: ENSG000000744107   OMIM: 6032635   UniProtKB: O435703   

Export aliases for CA12 gene to outside databases

Previous GC identifers: GC15M059403 GC15M056707 GC15M061195 GC15M061332 GC15M061402 GC15M040438


(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 CA12 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. 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, Jul 2008)

GeneCards Summary for CA12 Gene:
CA12 (carbonic anhydrase XII) is a protein-coding gene. Diseases associated with CA12 include hyperchlorhidrosis, isolated, and hypoxia. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA2.

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

summary for CA12 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 CA12 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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CA12 gene promoter:
         COUP-TF1   AML1a   COUP   MyoD   HNF-4alpha2   HNF-4alpha1   E47   AREB6   COUP-TF   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CA12 promoter sequence
   Search Chromatin IP Primers for CA12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA12


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 information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M063613:  view genomic region     (about GC identifiers)

Start:
63,613,577 bp from pter      End:
63,674,360 bp from pter
Size:
60,784 bases      Orientation:
minus 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: CAH12_HUMAN, O43570 (See protein sequence)
Recommended Name: Carbonic anhydrase 12 precursor  
Size: 354 amino acids; 39451 Da
Cofactor: Zinc
Subunit: Homodimer
5 PDB 3D structures from and Proteopedia for CA12:
1JCZ (3D)        1JD0 (3D)        4HT2 (3D)        4KP5 (3D)        4KP8 (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

Explore proteomics data for CA12 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn28, Asn80, Asn162
  • Modification sites at PhosphoSitePlus

  • See CA12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000178638   ENSP00000343088   ENSP00000403028  
    Reactome Protein details: O43570

    CA12 Human Recombinant Protein Products:

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    CA12 Antibody Products:

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    Cloud-Clone Corp. CLIAs for CA12


    (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
     IPR018430 Carbonic_anhydrase_CA12

    Graphical View of Domain Structure for InterPro Entry O43570

    ProtoNet protein and cluster: O43570

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

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


    CA12 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: 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);

         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

         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--
         
    CA12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CA12:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Car12):
     mortality/aging 

    CA12 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CA12
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA12

    miRNA
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    miRTarBase miRNAs that target CA12:
    hsa-mir-18a-5p (MIRT031348), hsa-mir-335-5p (MIRT018561), hsa-let-7b-5p (MIRT032380), hsa-mir-103a-3p (MIRT027182), hsa-mir-16-5p (MIRT001475), hsa-mir-124-3p (MIRT022970)

    Block miRNA regulation of human, mouse, rat CA12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CA12 (see all 22):
    hsa-miR-100* hsa-miR-128 hsa-miR-342-3p hsa-miR-520a-5p hsa-miR-298 hsa-miR-520g hsa-miR-330-3p hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidCA12 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CA12

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    GenScript: all cDNA clones in your preferred vector (see all 2): CA12 (NM_001218)
    Sino Biological Human cDNA Clone for CA12
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA12

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA12


    (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
    CAH12_HUMAN, O43570: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    chloroplast2
    cytosol2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    CA12 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 CA12 About    
    See pathways by source

    SuperPathContained pathways About
    1Nitrogen metabolism
    Reversible Hydration of Carbon Dioxide0.00
    Nitrogen metabolism
    2Metabolism
    Metabolism0.38
    3Translational Control
    Translational Control
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism
    5Celecoxib Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for CA12
        Translational Control
    Glucose / Energy Metabolism


    1 Reactome Pathway for CA12
        Reversible hydration of carbon dioxide

    1 PharmGKB Pathway for CA12
        Celecoxib Pathway, Pharmacodynamics

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


    CA12 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CA12
    Interactions:

        GeneGlobe Interaction Network for CA12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for CA12 (O435702, 3 ENSP000001786384) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206206Q9UER72, 3MINT-8253946 I2D: score=2 
    ENSG00000206279Q9UER72, 3MINT-8253946 I2D: score=2 
    ENSG00000227046Q9UER72, 3MINT-8253946 I2D: score=2 
    ENSG00000231617Q9UER72, 3MINT-8253946 I2D: score=2 
    LGALS7P479292, 3, ENSP000003678914MINT-63767 I2D: score=4 STRING: ENSP00000367891
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0044281small molecule metabolic process TAS--

    CA12 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 CA12 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 CA12    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 CA12    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

    3 Novoseek inferred chemical compound relationships for CA12 gene    About this table
    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)



    CA12 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 CA12 gene (2 alternative transcripts): 
    NM_001218.3  NM_206925.1  

    Unigene Cluster for CA12:

    Carbonic anhydrase XII
    Hs.210995  [show with all ESTs]
    Unigene Representative Sequence: NM_001218
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000178638(uc002amc.3 uc002amd.3 uc002ame.3) ENST00000344366
    ENST00000422263 ENST00000560666 ENST00000558287 ENST00000560293
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CA12 (see all 22):
    hsa-miR-100* hsa-miR-128 hsa-miR-342-3p hsa-miR-520a-5p hsa-miR-298 hsa-miR-520g hsa-miR-330-3p hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidCA12 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CA12
      QuantiFast Probe-based Assays in human, mouse, rat CA12

    Additional mRNA sequence: 

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

    10 DOTS entries:

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

    Selected AceView cDNA sequences (see all 289):

    AK096845 AL039265 BP382862 NM_001218 CA423696 AA962472 CA393595 BM975894 
    BG164375 CD251322 BQ776191 CN482423 BF813655 AW510455 BM978571 CK570302 
    BC000278 AI200550 AI754211 BQ012398 AA600883 BM480301 AI814786 AI335165 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CA12 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CA12

    (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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    CA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGCATTG
    CA12 Expression
    About this image


    CA12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Growth Plate
             Chondrocyte-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Gonad
             Primordial Germ Cells Allantois
             Primordial germ cell-like cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    CA12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CA12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.210995

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA12

    (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 chordates.

    Orthologs for CA12 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car121 , 5 carbonic anyhydrase 121, 5 83.76(n)1
    82.15(a)1
      9 (36.09 cM)5
    764591  NM_178396.41  NP_848483.31 
     667136865 
    chicken
    (Gallus gallus)
    Aves CA121 carbonic anhydrase XII 66.57(n)
    62.46(a)
      415370  XM_413756.3  XP_413756.3 
    lizard
    (Anolis carolinensis)
    Reptilia CA126
    carbonic anhydrase XII
    60(a)
    1 ↔ 1
    AAWZ02037481(8045-15511)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.103622 Xenopus laevis transcribed sequence with weak similarity to protein refNP_001209.1 (H.sapiens) carbonic anhydrase XII precursor; carbonic dehydratase [Homo sapiens] less 70.42(n)    BU914545.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005377871 carbonic anhydrase 12-like 56.43(n)
    50.16(a)
      100537787  XM_005163134.1  XP_005163191.1 


    ENSEMBL Gene Tree for CA12 (if available)
    TreeFam Gene Tree for CA12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CA12 gene
    CA22  CA72  CA32  CA62  CA5B2  CA5A2  CA142  CA82  
    CA42  CA12  CA92  CA132  
    13 SIMAP similar genes for CA12 using alignment to 3 protein entries:     CAH12_HUMAN (see all proteins):
    CA14    CA6    CA1    PTPRZ1    CA3    CA10
    CA2    CA7    PTPRG    CA13    CA8    CA9
    CA4

    CA12 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 CA12 (see all 1317)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0652924
    Hyperchlorhidrosis, isolated (HCHLH)4--see VAR_0652922 E K mis40--------
    rs38377311,2
    C--40445619(-) GCATGT/-GCCCT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs711311631,2
    C--40449169(-) AAAAA-/A/A   
      AAAAAA
    AAAAA
    2 -- int11NA 2
    rs1127445161,2
    C--40451632(+) AGGCCT/-GAAGA 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs772577431,2
    C--40451633(+) AGGCCA/TGAAGA 2 -- int10--------
    rs1129877861,2
    C,F--40452608(+) ATCCAC/TCCACC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1995534741,2
    C--40479233(-) CCACTG/TTNNNN 2 -- int10--------
    rs1133140591,2
    C--40498529(+) CATGCTT/-TTTTT 2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs772484411,2
    --40498682(+) CTGAGA/GATAGG 2 -- us2k10--------
    rs1405459341,2
    --43676241(+) AGATTA/GTTTGG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CA12 (63613577 - 63674360 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CA12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1563CNV Insertion18451855
    nsv1564CNV Loss18451855
    nsv457181CNV Loss19166990

    Human Gene Mutation Database (HGMD): CA12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CA12
    DNA2.0 Custom Variant and Variant Library Synthesis for CA12

    (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: 603263   
    OMIM disorders: 143860  
    UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
  • Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860]: A disorder characterized by excessive sweating and
    increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report
    increased amounts of visible salt precipitates in sweat. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for CA12 (see all 23):    
    About MalaCards
    hyperchlorhidrosis, isolated    hypoxia    ductal carcinoma in situ    clear cell renal cell carcinoma
    metabolic acidosis    renal cell carcinoma    labyrinthitis    medulloblastoma
    oral squamous cell carcinoma    glaucoma    cervical cancer    peritonitis
    cervicitis    choroiditis    squamous cell carcinoma    breast cancer
    lung cancer    hiv-1    pancreatitis    multiple myeloma

    1 disease from the University of Copenhagen DISEASES database for CA12:
    Glaucoma

    CA12 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for CA12 gene    About this table

    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)

    Genetic Association Database (GAD): CA12

    Export disorders for CA12 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 CA12 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with CA12)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 Tuereci O.... Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 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, 9 Ivanov S.V.... Lerman M.I. (Proc. Natl. Acad. Sci. U.S.A. 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, 9 Whittington D.A.... Christianson D.W. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    4. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. (PubMed id 21035102)1, 2 Feldshtein M.... Birk O.S. (Am. J. Hum. Genet. 2010)
    5. 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)
    6. 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, 9 Liao S.Y....Lerman M.I. (J. Med. Genet. 2003)
    7. Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. (PubMed id 18322268)1, 9 Haapasalo J....Parkkila A.K. (Neuro-oncology 2008)
    8. Expression of transmembrane carbonic anhydrases, CAIX and CAXII, in human development. (PubMed id 19291313)1, 9 Liao S.Y....Stanbridge E.J. (BMC Dev. Biol. 2009)
    9. Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. (PubMed id 18451179)1, 9 Barnett D.H....Katzenellenbogen B.S. (Cancer Res. 2008)
    10. Expression of the transmembrane carbonic anhydrases, CA IX and CA XII, in the human male excurrent ducts. (PubMed id 11420383)1, 9 Karhumaa P....Rajaniemi H. (Mol. Hum. Reprod. 2001)

    (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: 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 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 CA12 Pharmacogenomics, SNPs, Pathways
    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 LifeMap Sciences, Inc.)
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    Patent Information for CA12 gene:
    Search GeneIP for patents involving CA12

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



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