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

CA8 Gene

protein-coding   GIFtS: 68
GCID: GC08M061151

Carbonic Anhydrase VIII


(Previous symbol: CALS)
Alzheimer's & Parkinson's 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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Reversible Hydration of Carbon Dioxide. GO annotations related to this gene include carbonate dehydratase activity and zinc ion binding. 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 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 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 SABiosciences Chromatin IP Primers for CA8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35219

  • CA8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CA8 Protein Expression
    REFSEQ proteins: NP_004047.3  
    ENSEMBL proteins: 
     ENSP00000314407  

    Human Recombinant Protein Products for CA8: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA8 (Carbonic Anhydrase VIII/CA8)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CA8
    OriGene Protein Over-expression Lysate for CA8
    OriGene MassSpec for CA8 
    OriGene Custom Protein Services for CA8
    GenScript Custom Purified and Recombinant Proteins Services for CA8
    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 

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

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

    CA8 for ontologies           About GeneDecksing



    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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    GenScript Custom Superior Antibodies Services for CA8
    Novus Biologicals CA8 Antibodies
    Abcam antibodies for CA8
    Cloud-Clone Corp. Antibodies for CA8 
    ThermoFisher Antibodies for CA8
    LSBio Antibodies in human, mouse, rat for CA8 

    Assay Products for CA8: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CA8
    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)
    About This Section
    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,
    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: 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 (GO ID links to tree view):    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  hearing/vestibular/ear 

    CA8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CA8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA8
    5 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CA8
    Sirion Biotech Customized adenovirus for overexpression of CA8

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of CA8 
                         Customized lentivirus expression plasmids for stable overexpression of CA8 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CA8
    Search LifeMap BioReagents cell lines for CA8
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA8


    (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 CA8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Reversible Hydration of Carbon Dioxide
    Nitrogen metabolism0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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


    CA8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CA8

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

    5/7 Interacting proteins for CA8 (P352192, 3 ENSP000003144074) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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 
    LRRN4ENSP000003681354STRING: ENSP00000368135
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    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 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

    CA8 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about CA8 / CAH8

    (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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA8
    5 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA8
    Clone
    Products:
         
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA8
    Sirion Biotech Customized lentivirus for stable overexpression of CA8 
                         Customized lentivirus expression plasmids for stable overexpression of CA8 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CA8
    OriGene qSTAR qPCR primer pairs in human, mouse for CA8
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CA8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CA8
      Search QIAGEN 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 

    24/50 AceView cDNA sequences (see all 50):

    CK824618 AW117642 AA810866 CR605437 BQ222079 BF061537 AK090655 BC015531 
    BC069794 BM462961 AA806912 AY075022 Z39364 BG291190 BE892422 BC069744 
    AA599117 BX370763 AI655460 BE890051 BG197013 L04656 AI091231 NM_004056 

    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

    CA8 expression in normal human tissues (normalized intensities)      CA8 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebellum
             brain/hindbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles

    See CA8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CA8

    SOURCE GeneReport for Unigene cluster: Hs.654388
        SABiosciences Custom PCR Arrays for CA8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CA8
    OriGene qSTAR qPCR primer pairs in human, mouse for CA8
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CA8
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CA8
    Search QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CA8 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car81 , 5 carbonic anhydrase 81, 5 89.54(n)1
    98.97(a)1
      4 (3.53 cM)5
    123191  NM_007592.31  NP_031618.21 
     81433675 
    chicken
    (Gallus gallus)
    Aves CA81 carbonic anhydrase VIII 80.68(n)
    89.75(a)
      421139  XM_419221.3  XP_419221.3 
    lizard
    (Anolis carolinensis)
    Reptilia CA86
    Uncharacterized protein
    85(a)
    1 ↔ 1
    4(28364048-28416054)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.138362 Transcribed sequence with moderate similarity to protein more 75.72(n)    57051732 
    worm
    (Caenorhabditis elegans)
    Secernentea cah-36
    cah-56
    Putative carbonic anhydrase 5
    30(a)
    24(a)
    possible ortholog
    possible ortholog
    X(16487479-16489396)
    X(7020024-7023969)


    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)
    About This Section
    Paralogs for CA8 gene
    CA22  CA122  CA72  CA32  CA62  CA112  CA5B2  CA5A2  
    CA142  CA42  CA12  CA92  CA132  CA102  
    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) 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

    10/2011 SNPs in CA8 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CA8
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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: 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 mild mental retardation. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 14 diseases for CA8:    About MalaCards
    cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3    dysequilibrium syndrome    paraneoplastic cerebellar degeneration    cerebellar degeneration
    cerebellar ataxia    nephrolithiasis    gastrointestinal stromal tumor    ataxia
    lung adenocarcinoma    mental retardation    adenocarcinoma    colon cancer
    colorectal cancer    lung cancer

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

    CA8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for CA8 gene, integrated from 9 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. (1993)
    2. Carbonic anhydrase-related protein VIII promotes colon cancer cell growth. (PubMed id 17219437)1, 3, 9 Nishikata M....Onishi S. (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. (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 TA1rkmen S....Robinson P.N. (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. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2003)
    9. Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11-->q12. (PubMed id 7587398)1, 9 Bergenhem N.C....Tashian R.E. (1995)
    10. Genome-wide association study of d-amphetamine respons e in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PubMed id 22952603)1 Hart A.B....Palmer A.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 767 HGNC: 1382 AceView: CA8 Ensembl:ENSG00000178538 euGenes: HUgn767
    ECgene: CA8 Kegg: 767 H-InvDB: CA8

    (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 CA8 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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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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