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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CA12 Gene

protein-coding   GIFtS: 67
GCID: GC15M063613

carbonic anhydrase XII
 Explore 17 diseases affiliated with
CA12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CA12    

Aliases
for CA12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Carbonic Anhydrase XII1 2 3     CAXII2
HsT188161 2     Carbonic Anhydrase 122
Carbonate Dehydratase XII2 3     Carbonic Dehydratase2
Tumor Antigen HOM-RCC-3.1.32 3     EC 4.2.1.13
CA-XII2 3     

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


Summaries
for CA12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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, Jul 2008)

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

summary for CA12:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CA12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CA12 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
2 PDB 3D structures from and Proteopedia for CA12:
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 modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43570

    • CA12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000178638   ENSP00000343088   ENSP00000403028  
    Reactome Protein details: O43570
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for CA12 (Carbonic Anhydrase XII/CA12)
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    OriGene Purified Protein: CA12
    OriGene Protein Over-expression Lysate (see all 3): CA12
    OriGene Custom Protein Services for CA12 
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    Novus Biologicals CA12 Proteins
    Novus Biologicals CA12 Lysates
    Sino Biological Recombinant Protein for CA12
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CA12

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

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


    CA12 for ontologies           About GeneDecksing



    CA12 Antibody Products: 
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    ThermoFisher Antibodies for CA12

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    Uscn ELISAs and CLIAs for CA12

    Protein Domains /
    Families
    for CA12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CA12 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001148 Carbonic_anhydrase_a
     IPR018338 Carbonic_anhydrase_a-class_CS
     IPR018430 Carbonic_anhydrase_CA12
     IPR023561 Carbonic_anhydrase_a-class

    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


    Function
    for CA12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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);

         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

    miRNA
    Products:            		miRTarBase miRNAs that target CA12:
    hsa-mir-16 (MIRT001475)

    OriGene 3'-UTR Clone (see all 2): CA12
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA12
    8/22 QIAGEN miScript miRNA 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 plasmid: CA12 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA12 (see all 7)
    OriGene shRNA RFP: CA12
    OriGene siRNA: CA12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA12

    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CA12 (NM_001218)
    Sino Biological Human cDNA Clone for CA12
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA12 

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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA12

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity IEA--
    GO:0008270zinc ion binding IEA--


    CA12 for ontologies           About GeneDecksing


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

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

    CA12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CA12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Reversible Hydration of Carbon Dioxide
    		Reversible Hydration of Carbon Dioxide1.00
    		Nitrogen metabolism0.52
    2Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    3Metabolism
    		Metabolism1.00
    4Celecoxib Pathway, Pharmacodynamics
    		Celecoxib Pathway, Pharmacodynamics1.00
    5Translational Control
    		Translational Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    2        Reactome Pathways for CA12
        Reversible Hydration of Carbon Dioxide
    Metabolism

    1 PharmGKB Pathway for CA12
        Celecoxib Pathway, Pharmacodynamics

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


    CA12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CA12

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

    5/12 Interacting proteins for CA12 (O435702, 3 ENSP000001786384) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LGALS7P479292, 3, ENSP000003678914MINT-63767 I2D: score=4 STRING: ENSP00000367891
    LGALS7BP479292, 3, ENSP000003135714MINT-63767 I2D: score=4 STRING: ENSP00000313571
    KATNBL1Q9H0792, 3, ENSP000002565444MINT-65435 I2D: score=4 STRING: ENSP00000256544
    ATP5C1P365422, 3MINT-63699 I2D: score=5 
    SGSM2O431472, 3MINT-64864 I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for CA12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CA12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CA12 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    U104Potent 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--

    4 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
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor19119014
    HydroflumethiazideDihydroflumethazide (see all 6)135-09-1targetinhibitor19119014

    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CA12 / CAH12 

    Transcripts
    for CA12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone (see all 2): CA12
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA12
    8/22 QIAGEN miScript miRNA 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 plasmid: CA12 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA12 (see all 7)
    OriGene shRNA RFP: CA12
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    Clone
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    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 

    10 DOTS entries:

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

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

    AI814786 AI335165 AK096845 BM929416 AA953925 CA393595 BM480301 BM479639 
    AI754211 BQ012398 BQ000949 AI469604 BU944741 BU184227 CA393587 BQ012448 
    AL711206 AI572658 BM975894 BC000278 AA741420 BQ421859 CA309380 NM_001218 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for CA12 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTGCATTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CA12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMandibular CondyleBone
    BoneZeugopod Growth PlateBone
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Primordial germ cell-like cells (Reconstitution of mo...)
    Extraembryonic endoderm-like cells (Generation of extrae...)

    See CA12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CA12

    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
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA12

    Orthologs
    for CA12 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CA12 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CA121 carbonic anhydrase XII 68.25(n)
    63.81(a)    		   415370  XM_413756.2  XP_413756.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CA126
    		 --
    		 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 9-like 59.06(n)
    54.72(a)    		   100537787  XM_003201450.1  XP_003201498.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 27(a)
    		 possible ortholog
    		 GroupUn.4108(1282-1968)
    worm
    (Caenorhabditis elegans)    		 Secernentea cah-36
    cah-56
    		 Putative carbonic anhydrase 5
    		 27(a)
    23(a)
    		 possible ortholog
    possible ortholog
    		 X(16487406-16489323)
    X(7019981-7023926)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATACA26
    ACA46
    (see all 8)    		 alpha carbonic anhydrase 4
    (see all 8)    		 27(a)
    24(a)
    (see all 8)    		 many ↔ many
    many ↔ many
    (see all 8)    		 2(12029997-12032420)
    4(11219772-11221126)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 bifunctional monodehydroascorbate reductase and ca...
    bifunctional monodehydroascorbate reductase and ca...
    (see all 10)    		 27(a)
    25(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 11(2485289-2485837)
    8(23144504-23148767)


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

    Paralogs
    for CA12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CA12 gene
    CA22  CA72  CA62  CA32  CA112  CA5B2  CA142  CA5A2  
    CA82  CA42  CA12  CA132  CA92  CA102  
    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



    Genomic Variants
    for CA12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1065 NCBI SNPs in CA12 are shown (see all 1065)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs778820421,2
    		C,F,--40438481(+) NNNNGT/CGTGTA 2 -- ut311Minor allele frequency- C:0.06NA 120
    rs789454401,2
    		--40438730(+) TTTTTA/TAACTA 2 -- ut310--------
    rs617323781,2
    		C,F,--40439275(+) CAGACA/TGTCCC 2 -- ut314Minor allele frequency- T:0.44NS NA 202
    rs1125256801,2
    		--40439898(+) CACAGG/AGTTCT 2 -- ut312Minor allele frequency- A:0.02CSA WA 120
    rs772274331,2
    		C,F,--40439933(+) GTTGCG/ACCTGT 2 -- ut311Minor allele frequency- A:0.06NA 120
    rs39229211,2
    		H--40439973(-) ATACTC/ACATAT 2 -- ut31 ese34Minor allele frequency- A:0.00NS EA 420
    rs734474351,2
    		C,--40440102(+) AGAGAG/CAGAGA 2 -- ut311Minor allele frequency- C:0.50WA 2
    rs1995240431,2
    		C--40440408(-) TTTATA/CAAGCC 2 -- ut310--------
    rs1116629901,2
    		C,--40441107(+) GAGAAC/TANNNN 2 -- ut312Minor allele frequency- T:0.04CSA WA 120
    rs1121258591,2
    		C--40442173(+) CACATA/C/TACATT 2 -- int11CSA 1

    HapMap Linkage Disequilibrium report for CA12 (63613577 - 63674360 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CA12: --
    Human Gene Mutation Database (HGMD): CA12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CA12
    DNA2.0 Custom Variant and Variant Library Synthesis for CA12

    Disorders / Diseases
    for CA12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CA12 for disorders           About GeneDecksing

    OMIM gene information: 603263   
    OMIM disorders: 143860  
    UniProtKB/Swiss-Prot: CAH12_HUMAN, O43570
  • Defects in CA12 are the cause of hyperchlorhidrosis isolated (HCHLH) [MIM:143860]. HCHLH is 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

    17 diseases for CA12:    About MalaCards
    hyperchlorhidrosis, isolated    renal carcinoma    hypoxia    carcinoma
    clear cell renal cell carcinoma    renal cell carcinoma    ductal carcinoma in situ    glaucoma
    breast cancer    medulloblastoma    colon carcinoma    cervical cancer
    cervicitis    breast carcinoma    pancreatitis    prostatitis
    neuronitis

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

    8 Novoseek 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)


    Export disorders for CA12 gene to outside databases

    Publications
    for CA12 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CA12 gene, integrated from 9 sources (see all 71):
    (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. (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. (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. (2001)
    4. Hyperchlorhidrosis caused by homozygous mutation in C A12, encoding carbonic anhydrase XII. (PubMed id 21035102)1, 2 Feldshtein M....Birk O.S. (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. (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. (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. (2008)
    8. Expression of transmembrane carbonic anhydrases, CAIX and CAXII, in human development. (PubMed id 19291313)1, 9 Liao S.Y....Stanbridge E.J. (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. (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. (2001)

    External Searches for CA12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing CA12 gene

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

    Other Databases showing CA12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CA12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CA12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CA12 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CA12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CA12 gene:
    Search GeneIP for patents involving CA12

    GeneCards and IP:
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