Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    CA12 carbonic anhydrase XII [ Homo sapiens (human) ]

    Gene ID: 771, updated on 5-May-2013
    Official Symbol
    CA12provided by HGNC
    Official Full Name
    carbonic anhydrase XIIprovided by HGNC
    Primary source
    HGNC:1371
    See related
    HPRD:04464; MIM:603263
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAXII; HsT18816
    Summary
    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]
    Location :
    15q22
    Sequence :
    Chromosome: 15; NC_000015.9 (63615730..63674075, complement)
    See CA12 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene RAB8B, member RAS oncogene family Neighboring gene APH1B gamma secretase subunit Neighboring gene ubiquitin specific peptidase 3 Neighboring gene uncharacterized LOC100130855 Neighboring gene F-box and leucine-rich repeat protein 22

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A catalogue of putative HIV-1 protease host cell substrates. Impens F, et al. Biol Chem, 2012 Sep. PMID 22944692.
    2. CAXII Is a sero-diagnostic marker for lung cancer. Kobayashi M, et al. PLoS One, 2012. PMID 22439015.
    3. Tumor-associated carbonic anhydrase XII is linked to the growth of primary oral squamous cell carcinoma and its poor prognosis. Chien MH, et al. Oral Oncol, 2012 May. PMID 22172588.
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    5. Metabolic acidosis with topiramate and zonisamide: an assessment of its severity and predictors. Mirza NS, et al. Pharmacogenet Genomics, 2011 May. PMID 21278619.

    See all (41) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Serum CAXII levels were significantly higher in lung cancer patients than in healthy controls, providing evidence that CAXII may be a novel sero-diagnostic marker for lung cancer.
      Title: CAXII Is a sero-diagnostic marker for lung cancer.
    2. The expression of CA XII in oral squamous cell carcinoma (OSCC) samples can predict the progression of OSCC and survival of OSCC patients.
      Title: Tumor-associated carbonic anhydrase XII is linked to the growth of primary oral squamous cell carcinoma and its poor prognosis.
    3. The development of acidosis with topiramate and zonisamide is not determined by drug dose or by treatment duration, but may be influenced by polymorphisms in the gene for CA type XII.
      Title: Metabolic acidosis with topiramate and zonisamide: an assessment of its severity and predictors.
    4. Data show that genes overexpressed in breast carcinoma including TFF1, TFF3, FOXA1 and CA12.Data show that genes overexpressed in breast carcinoma including TFF1, TFF3, FOXA1 and CA12.
      Title: Gene expression signatures differentiate ovarian/peritoneal serous carcinoma from breast carcinoma in effusions.
    5. Study identified the association of a Glu143Lys mutation in carbonic anhydrase 12 (CA12) with the disease.
      Title: Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
    6. we demonstrate that the hyperchlohidrosis phenotype is due to a homozygous mutation in CA12, encoding carbonic anhydrase XII.
      Title: Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
    7. CA12 may be used as a novel prognostic marker in combination with histologic grade of invasive cervical cancer.
      Title: Carbonic anhydrase XII expression is associated with histologic grade of cervical cancer and superior radiotherapy outcome.
    8. our results imply that CA2 and CA12 are highly over-expressed in advanced atherosclerosis by osteoclast-like cells of monocytic origin
      Title: Carbonic anhydrases II and XII are up-regulated in osteoclast-like cells in advanced human atherosclerotic plaques-Tampere Vascular Study.
    9. Carbonic anhydrase XII may affect the capability of invasion and migration of MDA-MB-231 cells, which may be mediated through the p38 MAPK pathway.
      Title: Carbonic anhydrase XII promotes invasion and migration ability of MDA-MB-231 breast cancer cells through the p38 MAPK signaling pathway.
    10. Suggest that CA XII should be considered a potential prognostic and therapeutic target in medulloblastomas and supratentorial primitive neuroectodermal tumours.
      Title: The tumour-associated carbonic anhydrases CA II, CA IX and CA XII in a group of medulloblastomas and supratentorial primitive neuroectodermal tumours: an association of CA IX with poor prognosis.
    Submit: New GeneRIF Correction See all (19)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    pol gag-pol Positional proteomics analysis identifies the cleavage of human carbonic anhydrase XII (CA12) at amino acid residues 268-269 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    O43570 P36542 ATP5C1    HPRD  PubMed  
    O43570 O43570 CA12    HPRD  PubMed  
    O43570 P39880 CUX1    HPRD  PubMed  
    O43570 Q9H079 KATNBL1    HPRD  PubMed  
    O43570 P47929 LGALS7B    HPRD  PubMed  
    O43570 Q9BYD2 MRPL9    HPRD  PubMed  
    O43570 RUN and TBC1 domain containing 1 SGSM2    HPRD  PubMed  
    O43570 Q96GM8 TOE1    HPRD  PubMed  
    BioGRID:107225 BioGRID:106997 ATP5C1    BioGRID  PubMed Two-hybrid 
    BioGRID:107225 BioGRID:107225 CA12    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107225 BioGRID:107985 DAXX    BioGRID  PubMed Two-hybrid 
    BioGRID:107225 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BioGRID:107225 BioGRID:119298 RDH11    BioGRID  PubMed Two-hybrid 
    BioGRID:107225 BioGRID:115234 SGSM2    BioGRID  PubMed Two-hybrid 
    BioGRID:107225 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Reversible Hydration of Carbon Dioxide, organism-specific biosystem (from REACTOME)
      Reversible Hydration of Carbon Dioxide, organism-specific biosystemCarbonic anhydrases reversibly catalyze the hydration of carbon dioxide and directly produce bicarbonate and protons, bypassing the formation of carbonic acid (reviewed in Lindskog 1997, Breton 2001,...

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ20151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbonate dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    bicarbonate transport TAS
    Traceable Author Statement
    more info
    		  
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    carbonic anhydrase 12
    Names
    carbonic anhydrase 12
    CA-XII
    carbonic dehydratase
    carbonate dehydratase XII
    tumor antigen HOM-RCC-3.1.3
    NP_001209.1
    NP_996808.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028022.1 RefSeqGene

      Range
      5001..63346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001218.3 → NP_001209.1  carbonic anhydrase 12 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC023981, BM994285, BQ440047, BU167720, BU944741, CA309380
      Consensus CDS
      CCDS10185.1
      UniProtKB/Swiss-Prot
      O43570
      Conserved Domains (2) summary
      cd03126
      Location:39 – 289
      Blast Score: 1096
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, ...
      COG3338
      Location:25 – 288
      Blast Score: 311
      Cah; Carbonic anhydrase [Inorganic ion transport and metabolism]

    2. NM_206925.1 → NP_996808.1  carbonic anhydrase 12 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is lacking one of the internal coding exons compared to transcript variant 1. It therefore, encodes an isoform (2) that is missing a 11 aa segment, compared to isoform 1.
      Source sequence(s)
      BC000278, BC023981, BM994285, BQ440047, BU167720, BU944741, CA309380
      Consensus CDS
      CCDS10186.1
      UniProtKB/Swiss-Prot
      O43570
      Conserved Domains (2) summary
      cd03126
      Location:39 – 289
      Blast Score: 1093
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, ...
      COG3338
      Location:25 – 288
      Blast Score: 310
      Cah; Carbonic anhydrase [Inorganic ion transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p10 Primary Assembly

      Range
      63615730..63674075, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      40438444..40496766, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018926.1 Alternate CHM1_1.0

      Range
      43676726..43735133, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01038912.1 (96143..124011) None
    genomic ABBA01038913.1 None
    genomic AC087525.6 (42963..101308) None
    genomic AMYH01006702.1 (164749..223156) None
    genomic CH471082.1 EAW77646.1
      EAW77647.1
      EAW77648.1
      EAW77649.1
      EAW77650.1
    mRNA AF037335.1 AAC63952.1
    mRNA AF051882.1 AAC39789.1
    mRNA AK000158.1 BAA90981.1
    mRNA AK096845.1 BAG53376.1
    mRNA AK315769.1 BAG38121.1
    mRNA BC000278.1 AAH00278.1
    mRNA BC001012.2 AAH01012.1
    mRNA BC011691.2 AAH11691.1
    mRNA BC023981.1 AAH23981.1
    mRNA BC087838.1 None
    mRNA BM994285.1 None
    mRNA BQ440047.1 None
    mRNA BT006656.1 AAP35302.1
    mRNA BU167720.1 None
    mRNA BU944741.1 None
    mRNA CA309380.1 None
    other-genetic DQ893188.2 ABM84114.1
    other-genetic DQ896511.2 ABM87510.1
    other-genetic EU831616.1 ACE87216.1
    other-genetic EU831623.1 ACE87223.1
    other-genetic EU831703.1 ACE86537.1
    other-genetic EU831708.1 ACE86542.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43570.1 GenPept UniProtKB/Swiss-Prot:O43570

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...