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Aliases for CA6 Gene

Aliases for CA6 Gene

  • Carbonic Anhydrase 6 2 3 5
  • Salivary Carbonic Anhydrase 3 4
  • Secreted Carbonic Anhydrase 3 4
  • Carbonate Dehydratase VI 3 4
  • Carbonic Anhydrase VI 2 4
  • CA-VI 3 4
  • Carbonic Anhydrase VI Nirs Variant 2 3
  • EC 4.2.1.1 4
  • GUSTIN 3

External Ids for CA6 Gene

Previous GeneCards Identifiers for CA6 Gene

  • GC01P008626
  • GC01P008816
  • GC01P008715
  • GC01P008940
  • GC01P008928
  • GC01P008155

Summaries for CA6 Gene

Entrez Gene Summary for CA6 Gene

  • The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]

GeneCards Summary for CA6 Gene

CA6 (Carbonic Anhydrase 6) is a Protein Coding gene. Diseases associated with CA6 include Multilocular Clear Cell Renal Cell Carcinoma and Dental Caries. Among its related pathways are Metabolism and Nitrogen metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA12.

UniProtKB/Swiss-Prot for CA6 Gene

  • Reversible hydration of carbon dioxide. Its role in saliva is unknown.

Gene Wiki entry for CA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA6 Gene

Genomics for CA6 Gene

Regulatory Elements for CA6 Gene

Enhancers for CA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F008937 1 Ensembl ENCODE 14.2 -6.8 -6785 2.4 KLF1 PKNOX1 HINFP DDX20 PTRF GATA3 ZNF680 HLF NR4A1 TEAD2 CA6 ENSG00000232663
GH01F008993 0.2 ENCODE 13.2 +48.5 48507 2.0 CTCF CBX3 TRIM24 ZNF18 TRIM28 SETDB1 EGR2 CA6 SLC2A7 RNU6-304P MIR34A LZIC GC01M008979 RN7SL451P
GH01F008941 1.2 Ensembl ENCODE 12.9 -3.0 -2985 3.2 SOX13 SAP130 JUN ZMYM3 TEAD3 ZNF121 ZFHX2 ZNF366 GATAD1 SCRT2 CA6 ENSG00000232663
GH01F008969 0.5 Ensembl 5.9 +23.3 23316 0.2 CEBPB CA6 GC01M008979 RN7SL451P
GH01F008945 1 Ensembl ENCODE 0.8 +1.3 1304 3.4 ELF3 ATF1 PKNOX1 CREB3L1 ARID4B KLF17 ZNF2 ZBTB40 RAD21 SCRT2 CA6 RN7SL451P GC01M008979
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CA6 Gene

Chromosome:
1
Start:
8,945,785 bp from pter
End:
8,975,092 bp from pter
Size:
29,308 bases
Orientation:
Plus strand

Genomic View for CA6 Gene

Genes around CA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA6 Gene

Proteins for CA6 Gene

  • Protein details for CA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23280-CAH6_HUMAN
    Recommended name:
    Carbonic anhydrase 6
    Protein Accession:
    P23280
    Secondary Accessions:
    • E7EMQ1
    • Q5FBW3
    • Q5FC00
    • Q96QX8
    • Q9UF03

    Protein attributes for CA6 Gene

    Size:
    308 amino acids
    Molecular mass:
    35367 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CA6 Gene

    Alternative splice isoforms for CA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CA6 Gene

Post-translational modifications for CA6 Gene

  • Glycosylation at Asn 67 and Asn 256

Antibody Products

  • R&D Systems Antibodies for CA6 (Carbonic Anhydrase VI)
  • Abcam antibodies for CA6
  • Santa Cruz Biotechnology (SCBT) Antibodies for CA6

No data available for DME Specific Peptides for CA6 Gene

Domains & Families for CA6 Gene

Gene Families for CA6 Gene

Suggested Antigen Peptide Sequences for CA6 Gene

Graphical View of Domain Structure for InterPro Entry

P23280

UniProtKB/Swiss-Prot:

CAH6_HUMAN :
  • Contains 1 alpha-carbonic anhydrase domain.
  • Belongs to the alpha-carbonic anhydrase family.
Domain:
  • Contains 1 alpha-carbonic anhydrase domain.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA6: view

Function for CA6 Gene

Molecular function for CA6 Gene

GENATLAS Biochemistry:
carbonic anhydrase VI,secretory granules,parotid and submaxillar glands
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by coumarins, sulfonamide derivatives such as acetazolamide (AZA), saccharin and Foscarnet (phosphonoformate trisodium salt).
UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide. Its role in saliva is unknown.

Enzyme Numbers (IUBMB) for CA6 Gene

Gene Ontology (GO) - Molecular Function for CA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity IEA,TAS --
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA6: view
genes like me logo Genes that share phenotypes with CA6: view

Animal Models for CA6 Gene

MGI Knock Outs for CA6:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CA6

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CA6 Gene

Localization for CA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CA6 Gene COMPARTMENTS Subcellular localization image for CA6 gene
Compartment Confidence
extracellular 5
cytosol 4
chloroplast 2
mitochondrion 2
nucleus 2
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with CA6: view

Pathways & Interactions for CA6 Gene

genes like me logo Genes that share pathways with CA6: view

Pathways by source for CA6 Gene

2 Reactome pathways for CA6 Gene
1 KEGG pathway for CA6 Gene

Interacting Proteins for CA6 Gene

Gene Ontology (GO) - Biological Process for CA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IDA 24248522
GO:0006730 one-carbon metabolic process IEA --
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with CA6: view

No data available for SIGNOR curated interactions for CA6 Gene

Drugs & Compounds for CA6 Gene

(8) Drugs for CA6 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 67
Zinc Approved Pharma 2231
Mafenide Approved, Vet_approved Pharma Target, antagonist 5
Carbon dioxide Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(2) Additional Compounds for CA6 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
genes like me logo Genes that share compounds with CA6: view

Transcripts for CA6 Gene

Unigene Clusters for CA6 Gene

Carbonic anhydrase VI:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CA6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CA6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3: - - -
SP4: - - - -

Relevant External Links for CA6 Gene

GeneLoc Exon Structure for
CA6
ECgene alternative splicing isoforms for
CA6

Expression for CA6 Gene

mRNA expression in normal human tissues for CA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA6 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x31.7) and Skin - Not Sun Exposed (Suprapubic) (x18.9).

Protein differential expression in normal tissues from HIPED for CA6 Gene

This gene is overexpressed in Skin (41.9), Saliva (15.6), and Salivary gland (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CA6 Gene



Protein tissue co-expression partners for CA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of CA6 Gene:

CA6

SOURCE GeneReport for Unigene cluster for CA6 Gene:

Hs.100322

mRNA Expression by UniProt/SwissProt for CA6 Gene:

P23280-CAH6_HUMAN
Tissue specificity: Major constituent of saliva.
genes like me logo Genes that share expression patterns with CA6: view

Primer Products

Orthologs for CA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA6 34 35
  • 98.46 (n)
dog
(Canis familiaris)
Mammalia CA6 34 35
  • 80.28 (n)
cow
(Bos Taurus)
Mammalia CA6 34 35
  • 78.59 (n)
rat
(Rattus norvegicus)
Mammalia Car6 34
  • 70.16 (n)
mouse
(Mus musculus)
Mammalia Car6 34 16 35
  • 67.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CA6 35
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CA6 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA6 34 35
  • 61.23 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100006448 34
  • 60.5 (n)
ca6 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8628 35
  • 16 (a)
OneToMany
Species where no ortholog for CA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CA6 Gene

ENSEMBL:
Gene Tree for CA6 (if available)
TreeFam:
Gene Tree for CA6 (if available)

Paralogs for CA6 Gene

Paralogs for CA6 Gene

(11) SIMAP similar genes for CA6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CA6: view

Variants for CA6 Gene

Sequence variations from dbSNP and Humsavar for CA6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10864371 -- 8,948,880(+) CCGGA(A/T)AATCT intron-variant
rs10864372 -- 8,948,885(+) TAATC(A/T)CTTGA intron-variant
rs10864373 -- 8,948,957(+) ACAGC(A/G)AGACC intron-variant
rs10864374 -- 8,953,037(+) catct(C/T)tccct intron-variant
rs10864375 -- 8,954,337(+) gtttt(A/G)taatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CA6 Gene

Variant ID Type Subtype PubMed ID
esv2762130 CNV loss 21179565
esv2763506 CNV gain 21179565
esv3585160 CNV loss 21293372
esv3890637 CNV gain 25118596
nsv1965 CNV insertion 18451855
nsv471857 CNV novel sequence insertion 20440878
nsv516097 CNV loss 19592680
nsv545345 CNV gain 21841781

Variation tolerance for CA6 Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.16; 97.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA6 Gene

Human Gene Mutation Database (HGMD)
CA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA6 Gene

Disorders for CA6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multilocular clear cell renal cell carcinoma
  • cystadenocarcinoma of kidney
dental caries
  • dental caries extending into pulp
herpangina
  • vesicular pharyngitis
tricuspid valve stenosis
  • tricuspid stenosis
denture stomatitis
  • denture sore mouth
- elite association - COSMIC cancer census association via MalaCards
Search CA6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CA6

Genetic Association Database (GAD)
CA6
Human Genome Epidemiology (HuGE) Navigator
CA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA6
genes like me logo Genes that share disorders with CA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CA6 Gene

Publications for CA6 Gene

  1. Association of polymorphisms in the carbonic anhydrase 6 gene with salivary buffer capacity, dental plaque pH, and caries index in children aged 7-9 years. (PMID: 19721466) Peres R.C. … Line S.R. (Pharmacogenomics J. 2010) 3 22 46 64
  2. Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2. (PMID: 9691177) White P.S. … Brodeur G.M. (Cytogenet. Cell Genet. 1998) 2 3 22 64
  3. Human secreted carbonic anhydrase: cDNA cloning, nucleotide sequence, and hybridization histochemistry. (PMID: 1899030) Aldred P. … Fernley R.T. (Biochemistry 1991) 3 4 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for CA6 Gene

Sources for CA6 Gene

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