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] See more...

Aliases for CA6 Gene

Aliases for CA6 Gene

  • Carbonic Anhydrase 6 2 3 4 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
  • GC01P009005
  • 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 Dental Caries and Volkmann Contracture. Among its related pathways are Metabolism and Nitrogen metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA9.

UniProtKB/Swiss-Prot Summary for CA6 Gene

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

Gene Wiki entry for CA6 Gene

Additional gene information for CA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CA6 Gene

Genomics for CA6 Gene

GeneHancer (GH) Regulatory Elements for CA6 Gene

Promoters and enhancers for CA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J008937 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 514.4 -1.4 -1384 15.6 JUND FOS TOE1 HINFP HDAC2 POLR2A RAD51 NR2F2 FOXA2 ZNF592 CA6 H6PD RF00017-034 RF00017-035
GH01J008980 Enhancer 1 Ensembl ENCODE 13.2 +39.0 39016 11.2 CTCF ZNF623 REST RAD21 TRIM22 SMC3 MCM3 RBM25 ESRRA FOS CA6 SLC2A7 RNU6-304P MIR34A GPR157 MIR34AHG RF00017-037 RN7SL451P lnc-SLC2A7-1 piR-59425-001
GH01J008993 Enhancer 0.5 ENCODE 13.2 +48.5 48506 2 CTCF SKI USF1 TRIM28 ZNF280A FOXP1 ZNF18 EGR2 TRIM24 ZNF766 CA6 SLC2A7 RNU6-304P MIR34A LZIC piR-59425-001 RN7SL451P lnc-SLC2A7-1 RF00017-037
GH01J008963 Enhancer 0.7 ENCODE 0.4 +17.3 17342 0.2 CTCF CTBP1 SMC3 ZNF341 CREB1 RAD21 EHMT2 NR2F1 ZBTB7A NFIB piR-35674-004 lnc-SLC2A7-1 RF00017-037 RN7SL451P CA6 SLC2A7
GH01J008974 Enhancer 0.6 Ensembl 0.3 +28.5 28516 1.4 HNRNPK POLR2A FOSL1 FOS CEBPB CHD2 JUN NFE2 JUND HDAC2 RN7SL451P RF00017-037 lnc-SLC2A7-1 piR-35674-004 CA6 SLC2A7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CA6

Top Transcription factor binding sites by QIAGEN in the CA6 gene promoter:
  • aMEF-2
  • AML1a
  • c-Myb
  • FosB
  • FOXO1
  • FOXO1a
  • Fra-1
  • JunB
  • JunD
  • MEF-2A

Genomic Locations for CA6 Gene

Genomic Locations for CA6 Gene
chr1:8,945,785-8,975,092
(GRCh38/hg38)
Size:
29,308 bases
Orientation:
Plus strand
chr1:9,005,922-9,035,151
(GRCh37/hg19)
Size:
29,230 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 Asn67 and Asn256
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for CA6 Gene

Domains & Families for CA6 Gene

Gene Families for CA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for CA6 Gene

Blocks:
  • Carbonic anhydrase, eukaryotic
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CA6 Gene

GenScript: Design optimal peptide antigens:
  • Secreted carbonic anhydrase (CAH6_HUMAN)
  • Carbonic anhydrase VI nirs variant 3 (Q5FBW3_HUMAN)
  • Carbonic anhydrase VI nirs variant 2 (Q5FBW4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23280

UniProtKB/Swiss-Prot:

CAH6_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
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

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide. Its role in saliva is unknown.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hydrogencarbonate = CO2 + H2O; Xref=Rhea:RHEA:10748, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:17544; EC=4.2.1.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by coumarins, sulfonamide derivatives such as acetazolamide (AZA), saccharin and Foscarnet (phosphonoformate trisodium salt).
GENATLAS Biochemistry:
carbonic anhydrase VI,secretory granules,parotid and submaxillar glands

Enzyme Numbers (IUBMB) for CA6 Gene

Phenotypes From GWAS Catalog for CA6 Gene

Gene Ontology (GO) - Molecular Function for CA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity TAS,IEA --
GO:0005515 protein binding IPI --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA6

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA6 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 24248522
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with CA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CA6 Gene

Pathways & Interactions for CA6 Gene

PathCards logo

SuperPathways 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
2 KEGG pathways 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 73
Zinc Approved, Investigational Pharma 2822
Mafenide Approved, Vet_approved Pharma Target, antagonist 6
Carbon dioxide Approved, Investigational, 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
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
genes like me logo Genes that share compounds with CA6: view

Transcripts for CA6 Gene

mRNA/cDNA for CA6 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA6

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

Expression for CA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CA6 Gene

  • Saliva(2.9)
genes like me logo Genes that share expression patterns with CA6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CA6 Gene

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 31 30
  • 98.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CA6 31 30
  • 80.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CA6 31 30
  • 78.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car6 30
  • 70.16 (n)
mouse
(Mus musculus)
Mammalia Car6 17 31 30
  • 67.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CA6 31
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CA6 31
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA6 31 30
  • 61.23 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100006448 30
  • 60.5 (n)
ca6 31
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8628 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CA6: view image

Paralogs for CA6 Gene

Paralogs for CA6 Gene

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

  • CAH6_HUMAN
  • F8W148_HUMAN
  • Q5FBW4_HUMAN
  • Q8N4G4_HUMAN
genes like me logo Genes that share paralogs with CA6: view

Variants for CA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CA6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2274327 - p.Thr55Met
rs2274328 - p.Met68Leu
rs2274329 - p.Gly70Ala
rs2274333 - p.Ser90Gly
rs34265054 - p.Gln37Leu

Additional dbSNP identifiers (rs#s) for CA6 Gene

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)

Additional Variant Information for CA6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CA6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dental caries
  • dental caries extending into pulp
volkmann contracture
  • volkmann's ischemic contracture
sulfonamide allergy
multilocular clear cell renal cell carcinoma
  • cystadenocarcinoma of kidney
enamel erosion
- elite association - COSMIC cancer census association via MalaCards
Search CA6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RC … Line SR (The pharmacogenomics journal 2010) 3 23 41 54
  2. Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2. (PMID: 9691177) White PS … Brodeur GM (Cytogenetics and cell genetics 1998) 2 3 23 54
  3. Human secreted carbonic anhydrase: cDNA cloning, nucleotide sequence, and hybridization histochemistry. (PMID: 1899030) Aldred P … Fernley RT (Biochemistry 1991) 3 4 23 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for CA6 Gene

Sources for CA6 Gene