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CA4 Gene

protein-coding   GIFtS: 66
GCID: GC17P058227

Carbonic Anhydrase IV

(Previous name: retinitis pigmentosa 17 (autosomal dominant))
(Previous symbol: RP17)
  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 IV1 2 3     CAIV2
RP171 2 5     Car42
Carbonate Dehydratase IV2 3     Carbonic Anhydrase 42
CA-IV2 3     Carbonic Dehydratase IV2
Retinitis Pigmentosa 17 (Autosomal Dominant)1     EC 4.2.1.13

External Ids:    HGNC: 13751   Entrez Gene: 7622   Ensembl: ENSG000001674347   OMIM: 1147605   UniProtKB: P227483   

Export aliases for CA4 gene to outside databases

Previous GC identifers: GC17M057703 GC17P060677 GC17P058569 GC17P058701 GC17P055582 GC17P053598


(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 CA4 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. They show extensive diversity in tissue distribution and in their subcellular localization. This gene
encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary
(and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have
a role in inherited renal abnormalities of bicarbonate transport. (provided by RefSeq, Jul 2008)

GeneCards Summary for CA4 Gene:
CA4 (carbonic anhydrase IV) is a protein-coding gene. Diseases associated with CA4 include herpangina, and ca4-related retinitis pigmentosa. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA2.

UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748
Function: Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of
SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina
epithelium, and acid release in the choriocapillaris in the choroid

summary for CA4 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 CA4 (Carbonic anhydrase 4) 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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CA4 gene promoter:
         GATA-3   POU3F1   Nkx2-5   LUN-1   HNF-1A   GATA-2   PPAR-alpha   AREB6   HNF-1   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA4 promoter sequence
   Search Chromatin IP Primers for CA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA4


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

Entrez Gene cytogenetic band: 17q23   Ensembl cytogenetic band:  17q23.1   HGNC cytogenetic band: 17q23.1

CA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P058227:  view genomic region     (about GC identifiers)

Start:
58,227,297 bp from pter      End:
58,248,260 bp from pter
Size:
20,964 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748 (See protein sequence)
Recommended Name: Carbonic anhydrase 4 precursor  
Size: 312 amino acids; 35032 Da
Cofactor: Zinc
Subunit: Interacts with SLC4A4
4 PDB 3D structures from and Proteopedia for CA4:
1ZNC (3D)        3F7B (3D)        3F7U (3D)        3FW3 (3D)    
Secondary accessions: Q6FHI7

Explore the universe of human proteins at neXtProt for CA4: NX_P22748

Explore proteomics data for CA4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000708.1  
    ENSEMBL proteins: 
     ENSP00000300900   ENSP00000466964   ENSP00000467465   ENSP00000465837   ENSP00000464757  
    Reactome Protein details: P22748

    CA4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA4 (Carbonic Anhydrase IV/CA4)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CA4
    OriGene Protein Over-expression Lysate for CA4
    OriGene MassSpec for CA4
    OriGene Custom Protein Services for CA4
    GenScript Custom Purified and Recombinant Proteins Services for CA4
    Novus Biologicals CA4 Proteins
    Novus Biologicals CA4 Lysates
    Sino Biological Recombinant Protein for CA4
    Sino Biological Cell Lysate for CA4
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CA4

    CA4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CA4 (Carbonic Anhydrase IV/CA4)
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    Novus Biologicals CA4 Antibodies
    Abcam antibodies for CA4
    Cloud-Clone Corp. Antibodies for CA4
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    LSBio Antibodies in human, mouse, rat for CA4

    CA4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CA4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CA4
    Cloud-Clone Corp. CLIAs for CA4


    (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
     IPR018343 Carbonic_anhydrase_CA4

    Graphical View of Domain Structure for InterPro Entry P22748

    ProtoNet protein and cluster: P22748

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748
    Similarity: Belongs to the alpha-carbonic anhydrase family


    CA4 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: CAH4_HUMAN, P22748
    Function: Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of
    SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina
    epithelium, and acid release in the choriocapillaris in the choroid
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Activated by histamine, L-adrenaline, D-phenylalanine, L- and D-histidine. Inhibited by
    coumarins, saccharin, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium
    salt)
    Biophysicochemical properties: Kinetic parameters: KM=21.5 mM for CO(2);

         Genatlas biochemistry entry for CA4:
    carbonic anhydrase IV,cell surface membrane,expressed in lung capillaries and kidney

         Enzyme Number (IUBMB): EC 4.2.1.11

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity TAS--
    GO:0005515protein binding IPI15563508
    GO:0008270zinc ion binding IEA--
         
    CA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CA4:
     Decreased nuclei size in G2M 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Car4):
     growth/size/body  homeostasis/metabolism  mortality/aging  reproductive system 

    CA4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Car4tm1Sly for CA4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CA4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CA4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA4

    miRNA
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    Block miRNA regulation of human, mouse, rat CA4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CA4:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidCA4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CA4
    Predesigned siRNA for gene silencing in human, mouse, rat CA4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CA4

    Clone
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    OriGene clones in human, mouse for CA4 (see all 6)
    OriGene ORF clones in mouse, rat for CA4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA4 (NM_000350)
    Sino Biological Human cDNA Clone for CA4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CA4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA4


    (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
    CAH4_HUMAN, P22748: Cell membrane; Lipid-anchor, GPI-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4
    golgi apparatus4
    cytoskeleton2
    extracellular2
    nucleus2
    chloroplast1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005791rough endoplasmic reticulum IDA17409381
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA17409381
    GO:0005794Golgi apparatus IDA17409381
    GO:0005802trans-Golgi network IDA17409381
    GO:0005886plasma membrane TAS--

    CA4 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 CA4 About    
    See pathways by source

    SuperPathContained pathways About
    1Nitrogen metabolism
    Reversible Hydration of Carbon Dioxide0.00
    Nitrogen metabolism
    2O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    3Metabolism
    Metabolism0.38
    4Proximal tubule bicarbonate reclamation
    Proximal tubule bicarbonate reclamation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for CA4
        Erythrocytes take up carbon dioxide and release oxygen
    Reversible hydration of carbon dioxide
    Erythrocytes take up oxygen and release carbon dioxide


    2 Kegg Pathways  (Kegg details for CA4):
        Nitrogen metabolism
    Proximal tubule bicarbonate reclamation


    CA4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CA4: 
              Lung Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CA4

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

    Selected Interacting proteins for CA4 (P227483 ENSP000003009004) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC4A1P027303, ENSP000002624184I2D: score=3 STRING: ENSP00000262418
    SLC4A3P487513, ENSP000002730634I2D: score=2 STRING: ENSP00000273063
    SLC4A4ENSP000003935574STRING: ENSP00000393557
    PIH1D1ENSP000002622654STRING: ENSP00000262265
    PRDX2ENSP000003015224STRING: ENSP00000301522
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0042493response to drug IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0048513organ development IEA--

    CA4 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 CA4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    U 104Potent carbonic anhydrase (CA) IX and XII inhibitor[178606-66-1]

    8 HMDB Compounds for CA4    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--
    Hydrochlorothiazide3,4-Dihydrochlorothiazide (see all 89)58-93-5--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    SodiumSodium (see all 2)7440-23-5--
    TopiramateEpitomax (see all 5)97240-79-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    ZincZinc (see all 2)7440-66-6--

    Selected DrugBank Compounds for CA4 (see all 17)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 19703035 18782051 17582922
    TopiramateTipiramate [French] (see all 3)97240-79-4targetinhibitor14684331 10768298 14971907 11784136
    HydroflumethiazideDihydroflumethazide (see all 6)135-09-1targetinhibitor17139284 19119014 17016423
    Trichlormethiazide-- 133-67-5targetinhibitor17139284 19119014 17016423
    AcetazolamideAcetamidothiadiazolesulfonamide (see all 7)59-66-5targetinhibitor18336310 20605094
    BendroflumethiazideBendrofluazide (see all 9)73-48-3targetinhibitor17139284 17016423
    Benzthiazide-- 91-33-8targetinhibitor17139284 17016423
    ChlorothiazideChlorothiazid (see all 3)58-94-6targetinhibitor10954127 10713865
    CyclothiazideCiclotiazida [INN-Spanish] (see all 3)2259-96-3targetinhibitor17139284 17016423
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor19119014 10713865

    Selected Novoseek inferred chemical compound relationships for CA4 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzolamide 73.5 1 10995069 (1)
    bicarbonate 67.6 25 9054574 (3), 10420360 (2), 17652713 (2), 12234015 (2) (see all 9)
    sulfonamide 60.8 1 9054574 (1)
    acetazolamide 58.2 4 10768298 (1), 8056514 (1), 10995069 (1)
    halide 41.8 1 8037456 (1)
    zinc 35.1 2 9056493 (1), 17652713 (1)
    sodium dodecylsulfate 29.6 4 9140058 (2)
    fitc 28.8 1 9632745 (1)
    sodium bicarbonate 26.2 1 17652713 (1)
    chloride 24.1 1 9054574 (1)



    CA4 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,
    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 CA4 gene: 
    NM_000717.3  

    Unigene Cluster for CA4:

    Carbonic anhydrase IV
    Hs.89485  [show with all ESTs]
    Unigene Representative Sequence: BC057792
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300900(uc002iym.4 uc010wou.2) ENST00000585705 ENST00000591725
    ENST00000586876 ENST00000590203 ENST00000587265
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CA4:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidCA4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CA4 (NM_000350)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CA4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA4
      QuantiTect SYBR Green Assays in human, mouse, rat CA4
      QuantiFast Probe-based Assays in human, mouse, rat CA4

    Additional mRNA sequence: 

    AK289715.1 AK298710.1 BC057792.1 BC069649.1 BC074768.2 CR541766.1 M83670.1 

    4 DOTS entries:

    DT.441458  DT.97837300  DT.441459  DT.120902719 

    Selected AceView cDNA sequences (see all 44):

    AU103018 BI819658 BI819270 NM_000717 BC057792 BC069649 CB155206 BC074768 
    CD675699 BM784714 AW025419 BM726880 AU076464 BQ017110 CR541766 CD110229 
    BQ027956 BQ574378 BE856017 AU098704 BX098866 M83670 CD674886 BE645981 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CA4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
    SP1:        -                 -                                       
    SP2:                          -                                       
    SP3:        -                                                         


    ECgene alternative splicing isoforms for CA4

    (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)
    About This Section

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    CA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAAAATAT
    CA4 Expression
    About this image


    CA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 4 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
             Epiblast-like cells
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Gonad
             Primordial germ cell-like cells
    CA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89485

    UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748
    Tissue specificity: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed
    in the retinal epithelium at detectable levels

        Pathway & Disease-focused RT2 Profiler PCR Array including CA4: 
              Lung Cancer in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CA4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA4
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    In Situ
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    (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 animals.

    Orthologs for CA4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car41 , 5 carbonic anhydrase 41, 5 69.31(n)1
    55.86(a)1
      11 (51.34 cM)5
    123511  NM_007607.21  NP_031633.11 
     849577865 
    chicken
    (Gallus gallus)
    Aves CA41 carbonic anhydrase IV 51.08(n)
    41.98(a)
      417647  XM_415893.4  XP_415893.1 
    lizard
    (Anolis carolinensis)
    Reptilia CA46
    carbonic anhydrase IV
    38(a)
    1 ↔ 1
    GL343393.1(364086-386938)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ca41 carbonic anhydrase IV 48.08(n)
    39.93(a)
      100489625  XM_002933836.2  XP_002933882.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ca4b1 carbonic anhydrase IV b 51.71(n)
    42.59(a)
      553246  NM_001166211.1  NP_001159683.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CAH26
    Carbonic anhydrase 2
    27(a)
    1 → many
    3L(12170701-12176447)
    worm
    (Caenorhabditis elegans)
    Secernentea cah-36
    cah-56
    Protein CAH-5 (cah-5) mRNA, complete cds
    31(a)
    29(a)
    many ↔ many
    many ↔ many
    X(16487479-16489396) WBGene00000281
    X(7020024-7023969) WBGene00000283


    ENSEMBL Gene Tree for CA4 (if available)
    TreeFam Gene Tree for CA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CA4 gene
    CA22  CA122  CA72  CA32  CA62  CA5B2  CA5A2  CA142  
    CA82  CA12  CA92  CA132  
    6 SIMAP similar genes for CA4 using alignment to 5 protein entries:     CAH4_HUMAN (see all proteins):
    PTPRG    CA7    CA14    CA12    CA2    CA3

    CA4 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 CA4 (see all 325)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247494
    Retinitis pigmentosa 17 (RP17)4--see VAR_0247492 R W mis40--------
    VAR_0247504
    Retinitis pigmentosa 17 (RP17)4--see VAR_0247502 R S mis40--------
    rs1048945591,2
    Cpathogenic159242550(+) CGGCGC/TGGCCA 2 R W mis10--------
    rs1177046371,2
    C,Funtested159250876(+) AGGTCG/ATCTGG 2 /I /V mis13Minor allele frequency- A:0.01NA EU 5975
    rs769956341,2
    C,Funtested159250892(+) GTTCCG/AGGAGC 2 /Q /R mis12Minor allele frequency- A:0.01WA NA 4662
    rs668504611,2
    C--58228016(-) TTTTT-/T/T   
       TTTTT
    TTTTT
    2 -- int1 cds11NA 2
    rs572799041,2
    C--58233035(+) CTCAC-/TCAC  
            
    ACACA
    1 -- int10--------
    rs758491271,2
    C,F--59240430(+) GCTCTA/TACGAC 1 -- us2k12Minor allele frequency- T:0.25CSA WA 120
    rs1380562501,2
    --59240498(+) ACAGGC/TGACTG 1 -- us2k10--------
    rs748445981,2
    C,F--59240616(+) GATGGC/TAGATG 1 -- us2k11Minor allele frequency- T:0.05NA 120

    HapMap Linkage Disequilibrium report for CA4 (58227297 - 58248260 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527094CNV Loss19592680
    nsv519766CNV Loss19592680
    nsv833504CNV Gain17160897
    nsv528050CNV Gain19592680
    nsv9579CNV Gain+Loss18304495
    nsv7295OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CA4
    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CA4

    (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.)
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    OMIM gene information: 114760   
    OMIM disorders: 600852  
    UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748
  • Retinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium,
    due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the
    most likely cause underlying the RP17 phenotype

  • Selected diseases for CA4 (see all 37):    
    About MalaCards
    herpangina    ca4-related retinitis pigmentosa    retinitis pigmentosa 17    toxic encephalopathy
    ocular hypotension    autoimmune pancreatitis    hypoxia    rhyns syndrome
    renal tubular acidosis    retinal disease    retinitis pigmentosa    metabolic acidosis
    leber congenital amaurosis    cystic fibrosis    retinitis    brain disease
    choroiditis    glaucoma    vascular disease    blindness

    6 diseases from the University of Copenhagen DISEASES database for CA4:
    Herpangina     Alzheimer's disease     Vascular disease     Influenza
    Schizophrenia     Retinitis pigmentosa

    CA4 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for CA4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 71.9 12 19211803 (2), 15563508 (1), 15090652 (1), 18067080 (1) (see all 6)
    glaucoma 37.9 3 12676895 (1), 15563508 (1), 9541386 (1)
    cystic fibrosis 14.2 2 15956032 (1)
    pancreatitis 9.38 2 10415846 (1), 15647194 (1)

    Genetic Association Database (GAD): CA4
    Human Genome Epidemiology (HuGE) Navigator: CA4 (3 documents)

    Export disorders for CA4 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 CA4 gene, integrated from 10 sources (see all 115):
    (articles sorted by number of sources associating them with CA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. (PubMed id 8325641)1, 2, 3, 9 Okuyama T.... Sly W.S. (Genomics 1993)
    2. Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. (PubMed id 7625839)1, 2, 9 Okuyama T.... Sly W.S. (Arch. Biochem. Biophys. 1995)
    3. Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. (PubMed id 1311094)1, 2, 9 Okuyama T.... Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    4. Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. (PubMed id 15563508)1, 2, 9 Yang Z.... Zhang K. (Hum. Mol. Genet. 2005)
    5. Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. (PubMed id 8942978)1, 2, 9 Stams T....Christianson D.W. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    6. Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. (PubMed id 8809084)1, 2, 9 Waheed A.... Sly W.S. (Arch. Biochem. Biophys. 1996)
    7. Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. (PubMed id 2111324)1, 2, 9 Zhu X.L. and Sly W.S. (J. Biol. Chem. 1990)
    8. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    9. 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)
    10. Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. (PubMed id 14567693)1, 9 Alvarez B.V.... Casey J.R. (Biochemistry 2003)

    (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: 762 HGNC: 1375 AceView: CA4 Ensembl:ENSG00000167434 euGenes: HUgn762
    ECgene: CA4 Kegg: 762 H-InvDB: CA4

    (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)
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    NameDescription
    PharmGKB entry for CA4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CA4 gene:
    Search GeneIP for patents involving CA4

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



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