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

CA3 Gene

protein-coding   GIFtS: 63
GCID: GC08P086285

Carbonic Anhydrase III, Muscle Specific

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Carbonic Anhydrase III, Muscle Specific1 2     CAIII2
Carbonate Dehydratase III2 3     Car32
CA-III2 3     Carbonic Anhydrase 32
EC 4.2.1.13 8     Carbonic Anhydrase III3

External Ids:    HGNC: 13741   Entrez Gene: 7612   Ensembl: ENSG000001648797   OMIM: 1147505   UniProtKB: P074513   

Export aliases for CA3 gene to outside databases

Previous GC identifers: GC08P085174 GC08P086090 GC08P086425 GC08P086537 GC08P081845


(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 CA3 Gene:
Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that
encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the
reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression
of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels
in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than
normal. The gene spans 10.3 kb and contains seven exons and six introns. (provided by RefSeq, Oct 2008)

GeneCards Summary for CA3 Gene: 
CA3 (carbonic anhydrase III, muscle specific) is a protein-coding gene. Diseases associated with CA3 include laryngeal disease, and optic disk drusen, and among its related super-pathways are Nitrogen metabolism and Metabolic pathways. GO annotations related to this gene include carbonate dehydratase activity and nickel cation binding. An important paralog of this gene is CA2.

UniProtKB/Swiss-Prot: CAH3_HUMAN, P07451
Function: Reversible hydration of carbon dioxide

Gene Wiki entry for CA3 (Carbonic anhydrase III, muscle specific) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CA3 gene promoter:
         GR   HNF-1A   C/EBPalpha   Evi-1   GATA-2   E47   CHOP-10   Hand1   ZIC2/Zic2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CA3


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

Entrez Gene cytogenetic band: 8q21.2   Ensembl cytogenetic band:  8q21.2   HGNC cytogenetic band: 8q21.2

CA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P086285:  view genomic region     (about GC identifiers)

Start:
86,285,665 bp from pter      End:
86,361,269 bp from pter
Size:
75,605 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAH3_HUMAN, P07451 (See protein sequence)
Recommended Name: Carbonic anhydrase 3  
Size: 260 amino acids; 29557 Da
Cofactor: Zinc
Subcellular location: Cytoplasm
Developmental stage: At 6 weeks gestation, transcripts accumulate at low levels in the somites and at high levels
throughout the notochord. As gestation continues, CA3 becomes abundant in all developing muscle masses and
continues at high to moderate levels in the notochord
5 PDB 3D structures from and Proteopedia for CA3:
1Z93 (3D)        1Z97 (3D)        2HFW (3D)        3UYN (3D)        3UYQ (3D)    
Secondary accessions: B2R867 B3KUC8 O60842

Explore the universe of human proteins at neXtProt for CA3: NX_P07451

Explore proteomics data for CA3 at MOPED 

Post-translational modifications:

  • UniProtKB: S-glutathionylated in hepatocytes under oxidative stress (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07451

  • 4/8 DME Specific Peptides for CA3 (P07451) (see all 8)
     HWGSSDD  AELHLVH  GIFLKIG  ELHLVHWN 

    CA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CA3 Protein Expression
    REFSEQ proteins: NP_005172.1  
    ENSEMBL proteins: 
     ENSP00000429760   ENSP00000285381  
    Reactome Protein details: P07451
    Human Recombinant Protein Products for CA3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA3 (Carbonic Anhydrase III/CA3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CA3
    OriGene Protein Over-expression Lysate for CA3
    OriGene MassSpec for CA3 
    OriGene Custom Protein Services for CA3
    GenScript Custom Purified and Recombinant Proteins Services for CA3
    Novus Biologicals CA3 Proteins
    Novus Biologicals CA3 Lysates
    Sino Biological Recombinant Protein for CA3
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CA3
    Cloud-Clone Corp. Proteins for CA3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    CA3 for ontologies           About GeneDecksing



    CA3 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CA3 

    Assay Products for CA3: 
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    Cloud-Clone Corp. ELISAs for CA3 
    Cloud-Clone Corp. CLIAs for CA3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CA: Carbonic anhydrases

    4 InterPro protein domains:
     IPR018441 Carbonic_anhydrase_CA3
     IPR001148 Carbonic_anhydrase_a
     IPR018338 Carbonic_anhydrase_a-class_CS
     IPR023561 Carbonic_anhydrase_a-class

    Graphical View of Domain Structure for InterPro Entry P07451

    ProtoNet protein and cluster: P07451

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH3_HUMAN, P07451
    Similarity: Belongs to the alpha-carbonic anhydrase family


    CA3 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAH3_HUMAN, P07451
    Function: Reversible hydration of carbon dioxide
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Activated by proton donors such as imidazole and the dipeptide histidylhistidine. Inhibited by
    coumarins and sulfonamide derivatives such as acetazolamide
    Biophysicochemical properties: Kinetic parameters: KM=52.0 mM for CO(2);

         Genatlas biochemistry entry for CA3:
    carbonic anhydrase III,cytosolic,expressed in skeletal muscle and notochord,involved in cellular ion transport and
    PH homeostasis

         Enzyme Number (IUBMB): EC 4.2.1.11 2

         Gene Ontology (GO): 3 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--
    GO:0016151nickel cation binding IEA--
         
    CA3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CA3:
     Increased cell number in G2M,  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Car3):
     muscle 

    CA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Car3tm1Gkim for CA3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA3
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CA3:
    hsa-miR-3671 hsa-miR-328 hsa-miR-518a-5p hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidCA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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                         Customized lentivirus expression plasmids for stable overexpression of CA3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CA3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Reversible Hydration of Carbon Dioxide
    Reversible Hydration of Carbon Dioxide0.67
    Nitrogen metabolism0.67
    2Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for CA3
        Reversible Hydration of Carbon Dioxide
    Metabolism


    1         Kegg Pathway  (Kegg details for CA3):
        Nitrogen metabolism


    CA3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CA3

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0006979response to oxidative stress IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0044281small molecule metabolic process TAS--

    CA3 for ontologies           About GeneDecksing



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

    CA3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CA3 (CAH3)

    4 HMDB Compounds for CA3    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--

    3 DrugBank Compounds for CA3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 19703035 18162396 18782051 17582922
    AcetazolamideAcetamidothiadiazolesulfonamide (see all 7)59-66-5targetinhibitor20605094
    Ellagic Acid-- 476-66-4targetinhibitor20185318

    10/18 Novoseek inferred chemical compound relationships for CA3 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetazolamide 62 7 10768298 (1), 8506074 (1), 1909176 (1), 18444244 (1)
    hydroxide 48.6 3 9398305 (1), 9635771 (1)
    bicarbonate 43.8 4 9651514 (1), 2169869 (1)
    sulfonamide 43.6 2 8485108 (1), 1935938 (1)
    imidazole 41.6 1 2169869 (1)
    histidine 40.2 2 17427958 (1), 7599138 (1)
    hydrogen 36.5 16 9398305 (3), 17427958 (2), 7599138 (2), 9635771 (2) (see all 10)
    creatinine 33.8 15 14559123 (2), 18636795 (1), 7717578 (1), 10541924 (1) (see all 11)
    zinc 33.3 3 9398305 (2)
    aspartate 17 1 7717578 (1)

    Search CenterWatch for drugs/clinical trials and news about CA3 / CAH3

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CA3 gene: 
    NM_005181.3  

    Unigene Cluster for CA3:

    Carbonic anhydrase III, muscle specific
    Hs.82129  [show with all ESTs]
    Unigene Representative Sequence: NM_005181
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520921 ENST00000285381(uc003ydj.3 uc011lfv.2) ENST00000522207

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA3
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CA3:
    hsa-miR-3671 hsa-miR-328 hsa-miR-518a-5p hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidCA3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA3
    Clone
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    OriGene clones in human, mouse for CA3 (see all 7)
    OriGene ORF clones in mouse, rat for CA3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA3 (NM_001089)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA3
    Sirion Biotech Customized lentivirus for stable overexpression of CA3 
                         Customized lentivirus expression plasmids for stable overexpression of CA3 
    Primer
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    OriGene qPCR primer pairs and template standards for CA3
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CA3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CA3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA3

    Additional mRNA sequence: 

    AK096880.1 AK300670.1 AK300677.1 AK313254.1 BC004897.2 

    14 DOTS entries:

    DT.316128  DT.101983583  DT.92444302  DT.121483042  DT.101956736  DT.121482843  DT.99929917  DT.121482842 
    DT.121482905  DT.95351375  DT.100681508  DT.100786810  DT.100786809  DT.92444297 

    24/234 AceView cDNA sequences (see all 234):

    AA702404 BI831159 AA906098 BU169155 BC052602 CF551842 H91582 AI807047 
    AA305658 NM_198584 BX956196 AK095314 BE044345 AW952139 BI830861 AI417190 
    BE552131 CF552553 AA327952 BQ924401 BI495173 AW102768 AW950045 BM720604 

    GeneLoc Exon Structure


    (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

    CA3 expression in normal human tissues (normalized intensities)      CA3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATTAAAA
    CA3 Expression
    About this image


    CA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
             limb/hindlimb   
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Thoracic Rib
             sensory organ/ear/inner ear   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 4 entries
             Ureter
             visceral organ   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Lumbar Intervertebral Disc
             skeleton/cranium   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Node Cells Atrioventricular Node
             heart/atrium   

    See CA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CA3

    SOURCE GeneReport for Unigene cluster: Hs.82129

    UniProtKB/Swiss-Prot: CAH3_HUMAN, P07451
    Tissue specificity: Muscle specific

        SABiosciences Expression via Pathway-Focused PCR Array including CA3: 
              Hepatotoxicity in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA3

    (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 animals.

    Orthologs for CA3 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car31 , 5 carbonic anhydrase 31, 5 87.05(n)1
    91.92(a)1
      3 (3.22 cM)5
    123501  NM_007606.31  NP_031632.21 
     148635385 
    chicken
    (Gallus gallus)
    Aves CA31 carbonic anhydrase III, muscle specific 69.27(n)
    69.92(a)
      420208  XM_418319.2  XP_418319.1 
    lizard
    (Anolis carolinensis)
    Reptilia CA36
    carbonic anhydrase III, muscle specific
    55(a)
    1 ↔ 1
    4(23132617-23154399)
    zebrafish
    (Danio rerio)
    Actinopterygii cahz6
    ca26
    carbonic anhydrase II
    56(a)
    53(a)
    many ↔ many
    many ↔ many
    2(29192215-29200240)
    24(33852211-33870040)
    fruit fly
    (Drosophila melanogaster)
    Insecta CAH13
    CAH21
    carbonate dehydratase3
    Carbonic anhydrase 21
    40(a)
    (best of 3)3
    45.85(n)1
    33.99(a)1
      34D43
    393901  NM_140298.21  NP_648555.11 


    ENSEMBL Gene Tree for CA3 (if available)
    TreeFam Gene Tree for CA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CA3 gene
    CA22  CA122  CA72  CA62  CA112  CA5B2  CA5A2  CA142  
    CA82  CA42  CA12  CA92  CA132  CA102  
    16 SIMAP similar genes for CA3 using alignment to 2 protein entries:     CAH3_HUMAN (see all proteins):
    CA1    CA13    CA2    CA7    CA5B    CA5A
    CA12    CA6    CA8    DKFZp686I20267    CA10    CA14
    PTPRG    CA11    CA4    CA9

    CA3 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) 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

    10/231 SNPs in CA3 are shown (see all 231)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891708871,2
    --86349059(+) TGGCCG/TAAAAT 1 -- us2k10--------
    rs37580721,2
    C,F,H--86349140(+) TACAAA/TTCGTA 1 -- us2k114Minor allele frequency- T:0.07NS EA NA 1298
    rs1815398841,2
    --86349142(+) CAAATC/GGTAAT 1 -- us2k10--------
    rs1181053401,2
    F--86349143(+) AAATCG/TTAATT 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs37580731,2
    C,F,H--86349163(+) GCACAT/CCTAAA 1 -- us2k110Minor allele frequency- C:0.12EA NS 2662
    rs1176505991,2
    F--86349233(+) TGTGCG/ACATTT 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs14933011,2
    C,F,H--86349235(+) TGCGCG/ATTTAA 1 -- us2k129Minor allele frequency- A:0.06NS EA NA WA CSA 2589
    rs14933021,2
    C,F,A,H--86349280(+) TATCCT/CTCTAT 1 -- us2k113Minor allele frequency- C:0.38NS EA NA WA 786
    rs20550771,2
    C,F,O,A,H--86349320(+) TAGATC/TGTTCT 1 -- us2k130Minor allele frequency- T:0.26NS EA NA WA 3302
    rs1488525601,2
    --86349766(+) TGTAAA/TCCCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CA3 (86285665 - 86361269 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CA3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831377CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CA3
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    (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.)
    About This Section
    OMIM gene information: 114750    OMIM disorders: --

    20/27 diseases for CA3 (see all 27):    About MalaCards
    laryngeal disease    optic disk drusen    proliferative vitreoretinopathy    neuromuscular disease
    autoimmune hepatitis    pleomorphic adenoma    acute myocardial infarction    myocardial infarction
    myasthenia gravis    candidiasis    chronic obstructive pulmonary disease    laryngitis
    choroiditis    hypercholesterolemia    adenoiditis    hypoxia
    muscular dystrophy    liver disease    adenoma    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for CA3:
    Candidiasis     Auditory agnosia     Hordeolum

    CA3 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for CA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acute myocardial infarction 36.7 3 8572443 (1), 14559123 (1), 2108824 (1)
    reflux 34.7 9 15564833 (4), 17417109 (1), 12834114 (1)
    rhabdomyolysis 23.4 3 7717578 (2), 2108827 (1)
    neuromuscular diseases 21.5 1 2108824 (1)
    cell damage 16.3 5 8572443 (1), 10727678 (1)
    renal failure 1.07 1 9352127 (1)
    myocardial infarction 0 4 10727678 (2)


    Export disorders for CA3 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)
    About This Section

    PubMed articles for CA3 gene, integrated from 9 sources (see all 135):
    (articles sorted by number of sources associating them with CA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene. (PubMed id 9651514)1, 2, 9 Sowden J.... Edwards Y. (1998)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues. (PubMed id 2824285)1, 2 Lloyd J.... Edwards Y.H. (1987)
    5. Nucleotide sequence and derived amino acid sequence of a cDNA encoding human muscle carbonic anhydrase. (PubMed id 3086182)1, 2 Lloyd J.... Edwards Y.H. (1986)
    6. Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes. (PubMed id 3099285)1, 2 Wade R.... Kedes L. (1986)
    7. Carbonic anhydrase-III immunohistochemical localization in human skeletal muscle. (PubMed id 6221502)1, 3 Shima K....Hirai H. (1983)
    8. Production and characterization of monoclonal antibodies to human carbonic anhydrase III. (PubMed id 9890711)1, 9 Azzazy H.M....Christenson R.H. (1998)
    9. Carbonic anhydrase III promotes transformation and invasion capability in hepatoma cells through FAK signaling pathway. (PubMed id 18444244)1, 9 Dai H.Y....Chuang S.E. (2008)
    10. The phosphatase activity of carbonic anhydrase III is reversibly regulated by glutathiolation. (PubMed id 8633035)1, 9 Cabiscol E. and Levine R.L. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 761 HGNC: 1374 AceView: CA3andCA13 Ensembl:ENSG00000164879 euGenes: HUgn761
    ECgene: CA3 Kegg: 761 H-InvDB: CA3

    (According to HUGE)
    About This Section
      --

    (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 CA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CA3 gene:
    Search GeneIP for patents involving CA3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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