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

CA8 Gene

protein-coding   GIFtS: 65
GCID: GC08M061151

carbonic anhydrase VIII


(Previous symbol: CALS)
 Explore 18 diseases affiliated with
CA8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CA8    

Aliases
for CA8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Carbonic Anhydrase VIII1 2 3     CA-Related Protein2
CALS1 2 3 5     Carbonate Dehydratase2
CARP1 2 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


Summaries
for CA8 gene

(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:
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)

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

Gene Wiki entry for CA8


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: CA8 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

Proteins
for CA8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35219

    • CA8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004047.3  
    ENSEMBL proteins: 
     ENSP00000314407  

    Human Recombinant Protein Products: 
    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: CA8
    OriGene Protein Over-expression Lysate: CA8
    OriGene Custom Protein Services for CA8 
    GenScript Custom Purified and Recombinant Proteins Services for CA8
    Novus Biologicals CA8 Proteins
    Novus Biologicals CA8 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CA8
    Uscn 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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    Novus Biologicals CA8 Antibodies
    Search for Antibodies for CA8 at Abcam  
    Uscn Antibodies for CA8
    ThermoFisher Antibody for CA8

    Assay Products for CA8: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CA8
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CA8

    Protein Domains /
    Families
    for CA8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CA8 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB001148 Carbonic anhydrase

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


    Function
    for CA8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CA8
    Browse MicroRNA Expression Plasmids
    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 plasmid: CA8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA8 (see all 7)
    OriGene shRNA RFP: CA8
    OriGene siRNA: CA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA8

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CA8 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Products:             		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

    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


    1 GenomeRNAi human phenotype for CA8:
     Increased S DNA content 

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

    CA8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CA8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Reversible Hydration of Carbon Dioxide
    		Nitrogen metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for CA8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for CA8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:             		 OriGene 3'-UTR Clone: CA8
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: CA8 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA8 (see all 7)
    OriGene shRNA RFP: CA8
    OriGene siRNA: CA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA8
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CA8 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for CA8
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    CR605437 AA810866 CK824618 AW117642 BE264901 AA806912 BG291190 L04656 
    AY075022 AI655460 AA599117 BU951135 AK090655 BM462961 Z39364 NM_004056 
    BG197013 BE892422 AI091231 BU182748 BC069794 BC069744 BE792893 BQ222079 

    GeneLoc Exon Structure


    Expression
    for CA8 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTAATATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CA8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Gut TubeMidgutGut Tube
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Nkx2-1 GFP+ cells (Efficient derivation...)
    Cartilage-like cells (Differentiation of s...)Cartilage

    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
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    Browse OriGene validated miRNA SYBR primer pairs
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    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
    for CA8 gene

    (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 eukaryotes.

    Orthologs for CA8 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 88(a)
    		 1 ↔ 1
    		 4(28364081-28375950)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.138362 Transcribed sequence with moderate similarity to protein more 75.72(n)    57051732 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 30(a)
    		 possible ortholog
    		 GroupUn.4108(1282-1968)
    worm
    (Caenorhabditis elegans)    		 Secernentea cah-36
    cah-56
    (see all 3)    		 Putative carbonic anhydrase 5
    (see all 3)    		 29(a)
    22(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(16487406-16489323)
    X(7019981-7023926)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATACA26
    ACA46
    (see all 8)    		 alpha carbonic anhydrase 4
    (see all 8)    		 22(a)
    21(a)
    (see all 8)    		 many ↔ many
    many ↔ many
    (see all 8)    		 2(12029997-12032420)
    4(11219772-11221126)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 bifunctional monodehydroascorbate reductase and ca...
    bifunctional monodehydroascorbate reductase and ca...
    (see all 10)    		 23(a)
    22(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 11(2485289-2485837)
    8(20348392-20351041)


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

    Paralogs
    for CA8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CA8 gene
    CA22  CA122  CA72  CA62  CA32  CA112  CA5B2  CA142  
    CA5A2  CA42  CA12  CA132  CA92  CA102  
    13 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
    PTPRG

    CA8 for paralogs           About GeneDecksing



    Genomic Variants
    for CA8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1735 NCBI SNPs in CA8 are shown (see all 1735)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs736833701,2
    		C,--56589319(+) ATGCTT/CCCATT 1 -- ds50012Minor allele frequency- C:0.05WA 120
    rs770708611,2
    		F,--56589687(+) AAAGCG/ATACGA 1 -- ut312Minor allele frequency- A:0.02WA NA 238
    rs117739991,2
    		H--56589766(+) CATGGG/TGCTGA 1 -- ut31 ese30--------
    rs610863341,2
    		C,F,--56590273(+) AGCAGT/AAATGT 1 -- ut313Minor allele frequency- A:0.10WA CSA 122
    rs600080771,2
    		C,--56590293(+) ATATAG/AGGTTT 1 -- ut312Minor allele frequency- A:0.11WA 120
    rs125435271,2
    		H--56590330(+) ATTTCA/TTTTCA 1 -- ut314Minor allele frequency- T:0.00NS EA 396
    rs776908741,2
    		C,--56591618(+) TGATAG/CTCACA 1 -- int12Minor allele frequency- C:0.07WA 120
    rs736833721,2
    		C,--56591942(+) ACAACA/CACCTG 1 -- int12Minor allele frequency- C:0.10WA 120
    rs736833731,2
    		C,--56592213(+) TTTCAT/CTATAA 1 -- int12Minor allele frequency- C:0.10WA 120
    rs1137716261,2
    		--56592311(+) TCATAT/CGAGGT 1 -- int11Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for CA8 (61099906 - 61193971 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CA8
         1 Indel: 13064
    Human Gene Mutation Database (HGMD): CA8

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CA8
    DNA2.0 Custom Variant and Variant Library Synthesis for CA8

    Disorders / Diseases
    for CA8 gene

    (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.)
    About This Section
    CA8 for disorders           About GeneDecksing

    OMIM gene information: 114815   
    OMIM disorders: 613227  
    UniProtKB/Swiss-Prot: CAH8_HUMAN, P35219
  • Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3
    • (CMARQ3) [MIM:613227]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild
    mental retardation

    18 diseases for CA8:    About MalaCards
    cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3    cerebellar ataxia with mental retardation    paraneoplastic cerebellar degeneration    cerebellar ataxia
    cerebellar degeneration    dysequilibrium syndrome    gastrointestinal stromal tumor    nephrolithiasis
    kawasaki disease    ataxia    adenocarcinoma    lung adenocarcinoma
    osteoporosis    neurodegeneration    colon cancer    colorectal cancer
    lung cancer    neuronitis

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

    7 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CA8 (1 document)

    Export disorders for CA8 gene to outside databases

    Publications
    for CA8 gene

    (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 45):
    (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. 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)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. 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)
    8. 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)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for CA8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing CA8 gene

    (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

    Other Databases showing CA8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CA8 gene

    (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

    Intellectual Property
    for CA8 gene

    (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



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