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CA8 Gene

protein-coding   GIFtS: 69
GCID: GC08M061151

Carbonic Anhydrase VIII


(Previous symbol: CALS)
  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 VIII1 2 3     CA-Related Protein2
CALS1 2 3 5     Carbonate Dehydratase2
CARP2 3 5     Carbonic Anhydrase-Like Sequence2
CA-VIII2 3     Carbonic Anhydrase-Related Protein2
CAMRQ32 5     

External Ids:    HGNC: 13821   Entrez Gene: 7672   Ensembl: ENSG000001785387   OMIM: 1148155   UniProtKB: P352193   

Export aliases for CA8 gene to outside databases

Previous GC identifers: GC08U990008 GC08M061040 GC08M060824 GC08M061264 GC08M056591


(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 CA8 Gene:
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other
known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible
hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear
sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription
in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this
acatalytic form. (provided by RefSeq, Jul 2008)

GeneCards Summary for CA8 Gene:
CA8 (carbonic anhydrase VIII) is a protein-coding gene. Diseases associated with CA8 include cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, and dysequilibrium syndrome. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA2.

UniProtKB/Swiss-Prot: CAH8_HUMAN, P35219
Function: Does not have a carbonic anhydrase catalytic activity

Gene Wiki entry for CA8 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_000008.11  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CA8 gene promoter:
         GR   LHX3b/Lhx3b   FOXD3   CREB   POU2F1   deltaCREB   POU2F1a   Chx10   LHX3a/Lhx3a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA8 promoter sequence
   Search Chromatin IP Primers for CA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA8


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

Entrez Gene cytogenetic band: 8q12.1   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.1

CA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA8 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M061151:  view genomic region     (about GC identifiers)

Start:
61,099,906 bp from pter      End:
61,193,971 bp from pter
Size:
94,066 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAH8_HUMAN, P35219 (See protein sequence)
Recommended Name: Carbonic anhydrase-related protein  
Size: 290 amino acids; 32973 Da
Caution: Although it belongs to the alpha-carbonic anhydrase family, Arg-116 is present instead of the conserved
His which is a zinc-binding residue. It is therefore expected that this protein lacks carbonic anhydrase activity
1 PDB 3D structure from and Proteopedia for CA8:
2W2J (3D)    
Secondary accessions: A8K0A5 B3KQZ7 Q32MY2

Explore the universe of human proteins at neXtProt for CA8: NX_P35219

Explore proteomics data for CA8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96
  • Modification sites at PhosphoSitePlus

  • See CA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004047.3  
    ENSEMBL proteins: 
     ENSP00000314407  

    CA8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CA8
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    Novus Biologicals CA8 Proteins
    Novus Biologicals CA8 Lysate
    Sino Biological Recombinant Protein for CA8
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CA8
    Cloud-Clone Corp. Proteins for CA8

    CA8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CA8
    R&D Systems Antibodies for CA8 (Carbonic Anhydrase VIII/CA8)
    Browse OriGene Antibodies
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    Novus Biologicals CA8 Antibodies
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    LSBio Antibodies in human, mouse, rat for CA8

    CA8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CA8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CA8
    Cloud-Clone Corp. CLIAs for CA8


    (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
     IPR018434 Carbonic_anhydrase_RP_CA8
     IPR023561 Carbonic_anhydrase_a-class

    Graphical View of Domain Structure for InterPro Entry P35219

    ProtoNet protein and cluster: P35219

    1 Blocks protein domain: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH8_HUMAN, P35219
    Similarity: Belongs to the alpha-carbonic anhydrase family


    CA8 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: CAH8_HUMAN, P35219
    Function: Does not have a carbonic anhydrase catalytic activity

         Genatlas biochemistry entry for CA8:
    carbonic anhydrase VIII,expressed in several tissues,putatively involved in nerve function

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    CA8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CA8:
     Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Car8):
     behavior/neurological  growth/size/body  hearing/vestibular/ear 

    CA8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CA8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CA8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA8

    miRNA
    Products:
        
    miRTarBase miRNAs that target CA8:
    hsa-mir-192-5p (MIRT026126), hsa-mir-215-5p (MIRT024700)

    Block miRNA regulation of human, mouse, rat CA8 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CA8:
    hsa-miR-511 hsa-miR-520d-5p hsa-miR-3942-5p hsa-miR-561 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidCA8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CA8
    Predesigned siRNA for gene silencing in human, mouse, rat CA8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CA8

    Clone
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    OriGene clones in human, mouse for CA8 (see all 7)
    OriGene ORF clones in mouse, rat for CA8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA8 (NM_004056)
    Sino Biological Human cDNA Clone for CA8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA8

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CA8
    Browse ESI BIO Cell Lines and PureStem Progenitors for CA8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA8


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    chloroplast2
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    CA8 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 CA8 About    
    See pathways by source

    SuperPathContained pathways About
    1Nitrogen metabolism
    Nitrogen metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for CA8):
        Nitrogen metabolism


    CA8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CA8
    Interactions:

        GeneGlobe Interaction Network for CA8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for CA8 (P352192, 3 ENSP000003144074) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAP25Q8TEE92, 3MINT-63687 I2D: score=1 
    ITPR1Q146433, ENSP000004059344I2D: score=2 STRING: ENSP00000405934
    LRCH4O754273, ENSP000003096894I2D: score=4 STRING: ENSP00000309689
    UBA5Q9GZZ93I2D: score=1 
    ITPR3ENSP000003634354STRING: ENSP00000363435
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0048015phosphatidylinositol-mediated signaling IEA--

    CA8 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 

    Browse Tocris compounds for CA8 (CAH8)

    4 HMDB Compounds for CA8    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--

    1 DrugBank Compound for CA8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 19703035 18782051 17582922

    3 Novoseek inferred chemical compound relationships for CA8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bicarbonate 55.6 6 17205608 (1), 8544079 (1), 7597074 (1), 11599744 (1) (see all 5)
    histidine 37.3 2 10998050 (1)
    carbon dioxide 22.1 2 9659390 (1), 11086713 (1)



    CA8 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 CA8 gene: 
    NM_004056.4  

    Unigene Cluster for CA8:

    Carbonic anhydrase VIII
    Hs.654388  [show with all ESTs]
    Unigene Representative Sequence: NM_004056
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317995(uc003xtz.1) ENST00000524872(uc003xua.1) ENST00000528666
    ENST00000529918(uc003xub.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CA8 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CA8:
    hsa-miR-511 hsa-miR-520d-5p hsa-miR-3942-5p hsa-miR-561 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidCA8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CA8
    Predesigned siRNA for gene silencing in human, mouse, rat CA8
    Clone
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    OriGene ORF clones in mouse, rat for CA8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA8 (NM_004056)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CA8
    OriGene qSTAR qPCR primer pairs in human, mouse for CA8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CA8
      QuantiTect SYBR Green Assays in human, mouse, rat CA8
      Search QuantiFast Probe-based Assays in human, mouse, rat CA8

    Additional mRNA sequence: 

    AK090655.1 AK289470.1 AK293999.1 AK314538.1 AY075022.1 BC069744.1 BC069794.1 BC108929.2 
    L04656.1 

    5 DOTS entries:

    DT.306180  DT.100747377  DT.92032623  DT.40114127  DT.95237839 

    Selected AceView cDNA sequences (see all 50):

    CK824618 AW117642 AA810866 CR605437 BE264901 BF061537 BQ222079 BU182748 
    BC069794 Z39364 BC015531 AY075022 BC069744 BM462961 AA806912 AK090655 
    BU951135 BX370763 BE892422 BG197013 AA599117 AI655460 NM_004056 AI091231 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTAATATT
    CA8 Expression
    About this image


    CA8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebellum
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
    CA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CA8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654388
        Custom PCR Arrays for CA8
    Primer
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    OriGene qPCR primer pairs and template standards for CA8
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    Search QuantiFast Probe-based Assays in human, mouse, rat CA8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA8

    (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 CA8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car81 , 5 carbonic anhydrase 81, 5 88.85(n)1
    97.59(a)1
      4 (3.53 cM)5
    123191  NM_007592.31  NP_031618.21 
     81433625 
    chicken
    (Gallus gallus)
    Aves CA81 carbonic anhydrase VIII 79.62(n)
    88.34(a)
      421139  XM_004939869.1  XP_004939926.1 
    lizard
    (Anolis carolinensis)
    Reptilia CA86
    carbonic anhydrase VIII
    86(a)
    1 ↔ 1
    4(28364048-28416054)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ca81 carbonic anhydrase VIII 76.65(n)
    83.27(a)
      496646  NM_001011213.1  NP_001011213.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.138362 Transcribed sequence with moderate similarity to protein more 75.72(n)    57051732 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69063 carbonate dehydratase 35(a)   69A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea cah-36
    cah-56
    Protein CAH-5 (cah-5) mRNA, complete cds
    31(a)
    24(a)
    many ↔ many
    many ↔ many
    X(16487479-16489396) WBGene00000281
    X(7020024-7023969) WBGene00000283


    ENSEMBL Gene Tree for CA8 (if available)
    TreeFam Gene Tree for CA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CA8 gene
    CA22  CA122  CA72  CA32  CA62  CA5B2  CA5A2  CA142  
    CA42  CA12  CA92  CA132  
    12 SIMAP similar genes for CA8 using alignment to 1 protein entry:     CAH8_HUMAN:
    CA2    CA7    CA1    CA5B    CA13    CA3
    CA14    CA5A    CA12    DKFZp686I20267    CA10    CA6

    CA8 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 CA8 (see all 2011)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0636344
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3)4--see VAR_0636342 S P mis40--------
    rs1423759141,2
    --56588870(+) GGAGAA/GGCTGG 1 -- ds50010--------
    rs1878647791,2
    --56588979(+) TGCACA/GTGTGC 1 -- ds50010--------
    rs1926984781,2
    --56588983(+) CGTGTA/GCAGCC 1 -- ds50010--------
    rs22421551,2
    C,F,H--56589062(+) TCACCG/ATTTCC 1 -- ds500120Minor allele frequency- A:0.32EA NA NS WA 3958
    rs22421561,2
    C,F,H--56589098(+) ATACAC/TAAGGG 1 -- ds500122Minor allele frequency- T:0.32EA NA NS WA 4042
    rs1512726181,2
    --56589120(+) CTCTCC/TCCGCT 1 -- ds50010--------
    rs736833701,2
    C,F--56589319(+) ATGCTT/CCCATT 1 -- ds50012Minor allele frequency- C:0.05WA 120
    rs1408363971,2
    --56589419(+) ACAAAA/TTCCCT 1 -- ut310--------
    rs1822003091,2
    --56589485(+) CAATAA/GTATTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CA8 (61099906 - 61193971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CA8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv396601CNV Loss16902084
    nsv890943CNV Loss21882294
    nsv831334CNV Gain17160897
    nsv831333CNV Gain17160897
    nsv831332CNV Gain17160897

    Human Gene Mutation Database (HGMD): CA8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CA8
    DNA2.0 Custom Variant and Variant Library Synthesis for CA8

    (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: 114815   
    OMIM disorders: 613227  
    UniProtKB/Swiss-Prot: CAH8_HUMAN, P35219
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]: A congenital
    cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 19 diseases for CA8:    
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    cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3    dysequilibrium syndrome    cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1    paraneoplastic cerebellar degeneration
    cerebellar degeneration    cerebellar ataxia    nephrolithiasis    gastrointestinal stromal tumor
    ataxia    kawasaki disease    lung adenocarcinoma    osteoporosis
    mental retardation    adenocarcinoma    colorectal cancer    obesity
    lung cancer    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for CA8:
    Kawasaki disease

    CA8 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for CA8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma lung 45.6 4 16609906 (4)
    nsclc 34.7 2 15140539 (1), 16609906 (1)
    colorectal carcinoma 32.2 3 17219437 (1), 12950015 (1)
    adenocarcinoma 28.1 7 12950015 (2), 15140539 (1), 12536316 (1), 16609906 (1)
    cancer lung 20.3 5 15140539 (2), 16609906 (1), 12536316 (1)
    tumors 0 4 15140539 (1), 15942747 (1), 17219437 (1), 12536316 (1)
    cancer 0 3 16609906 (2), 12536316 (1)

    Genetic Association Database (GAD): CA8
    Human Genome Epidemiology (HuGE) Navigator: CA8 (1 document)

    Export disorders for CA8 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 CA8 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with CA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98% identical to the mouse homologue. (PubMed id 8482548)1, 2, 9 Skaggs L.A.... Tashian R.E. (Gene 1993)
    2. Carbonic anhydrase-related protein VIII promotes colon cancer cell growth. (PubMed id 17219437)1, 3, 9 Nishikata M....Onishi S. (Mol. Carcinog. 2007)
    3. Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis. (PubMed id 19172221)1, 4 Mori S....Ikegawa S. (J. Bone Miner. Metab. 2009)
    4. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. (PubMed id 19461874)1, 2 Turkmen S.... Robinson P.N. (PLoS Genet. 2009)
    5. Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing. (PubMed id 19360879)1, 2 Picaud S.S.... Yue W.W. (Proteins 2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. Expression of carbonic anhydrase-related protein CA-RP VIII in non-small cell lung cancer. (PubMed id 12536316)1, 9 Akisawa Y....Onishi S. (Virchows Arch. 2003)
    9. Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11--&gt;q12. (PubMed id 7587398)1, 9 Bergenhem N.C....Tashian R.E. (Cytogenet. Cell Genet. 1995)
    10. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PubMed id 22952603)1 Hart A.B....Palmer A.A. (PLoS ONE 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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      (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: 767 HGNC: 1382 AceView: CA8 Ensembl:ENSG00000178538 euGenes: HUgn767
    ECgene: CA8 Kegg: 767 H-InvDB: CA8

    (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 CA8 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 CA8 gene:
    Search GeneIP for patents involving CA8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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