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    CA6 carbonic anhydrase 6 [ Homo sapiens (human) ]

    Gene ID: 765, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CA6provided by HGNC
    Official Full Name
    carbonic anhydrase 6provided by HGNC
    Primary source
    HGNC:HGNC:1380
    See related
    Ensembl:ENSG00000131686 MIM:114780; AllianceGenome:HGNC:1380
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CA-VI; GUSTIN
    Summary
    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]
    Expression
    Restricted expression toward salivary gland (RPKM 1381.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CA6 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8945868..8975092)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8479556..8508762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9005927..9035151)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 17 Neighboring gene uncharacterized LOC112268261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8968192-8968692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8968693-8969193 Neighboring gene Sharpr-MPRA regulatory region 1652 Neighboring gene RNA, 7SL, cytoplasmic 451, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9046209-9046710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9048516-9049016 Neighboring gene solute carrier family 2 member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9064340-9064868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9064869-9065395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9067816-9068316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9068317-9068817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 207

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Immunohistochemical localization of carbonic anhydrases I, II, and VI in the developing rat sublingual and submandibular glands. Redman RS, et al. Anat Rec, 2000 Mar 1. PMID 10705347
    2. Carbonic anhydrase VI: a novel marker for salivary serous acinar differentiation and its application to discriminate acinic cell carcinoma from mammary analogue secretory carcinoma of the salivary gland. Hsieh MS, et al. Histopathology, 2016 Apr. PMID 26212680
    3. Genetic polymorphisms in the carbonic anhydrase VI gene and dental caries susceptibility. Li ZQ, et al. Genet Mol Res, 2015 Jun 1. PMID 26125798
    4. Exploring associations between taste perception, oral anatomy and polymorphisms in the carbonic anhydrase (gustin) gene CA6. Feeney EL, et al. Physiol Behav, 2014 Apr 10. PMID 24534176, Free PMC Article
    5. Effect of genetic polymorphisms in CA6 gene on the expression and catalytic activity of human salivary carbonic anhydrase VI. Aidar M, et al. Caries Res, 2013. PMID 23652931

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries.
      Title: Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries.
    2. Gene Methylation Affects Salivary Levels of the Taste Buds' Trophic Factor, Gustin Protein.
      Title: Gene Methylation Affects Salivary Levels of the Taste Buds' Trophic Factor, Gustin Protein.
    3. The gustin gene variation at rs2274333 and PROP taster status affect dietary fat perception: a stepwise multiple regression model study.
      Title: The gustin gene variation at rs2274333 and PROP taster status affect dietary fat perception: a stepwise multiple regression model study.
    4. Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.
      Title: Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.
    5. Associations of the activity and concentration of carbonic anhydrase VI with susceptibility to dental caries: A systematic review and meta-analysis.
      Title: Associations of the activity and concentration of carbonic anhydrase VI with susceptibility to dental caries: A systematic review and meta-analysis.
    6. Association between Carbonic Anhydrase VI Gene Copy Number Variations and Dental Caries Experience.
      Title: Association between Carbonic Anhydrase VI Gene Copy Number Variations and Dental Caries Experience.
    7. Combined effect of starch and sucrose on carbonic anhydrase VI activity in saliva and biofilm of children with early childhood caries. Exposure to starch and sucrose alters carbonic anhydrase VI activity in saliva and biofilm.
      Title: Combined effect of starch and sucrose on carbonic anhydrase VI activity in saliva and biofilm of children with early childhood caries. Exposure to starch and sucrose alters carbonic anhydrase VI activity in saliva and biofilm.
    8. Taste Changes in Patients with Inflammatory Bowel Disease: Associations with PROP Phenotypes and polymorphisms in the salivary protein, Gustin and CD36 Receptor Genes.
      Title: Taste Changes in Patients with Inflammatory Bowel Disease: Associations with PROP Phenotypes and polymorphisms in the salivary protein, Gustin and CD36 Receptor Genes.
    9. Investigation of carbonic anhydrase 6 gene polymorphism rs2274327 in relation to the oral health status and salivary composition in type 2 diabetic patients.
      Title: Investigation of carbonic anhydrase 6 gene polymorphism rs2274327 in relation to the oral health status and salivary composition in type 2 diabetic patients.
    10. Results indicate that carbonic anhydrase VI (CA6) gene polymorphisms influence Streptococcus mutans colonization, tooth biofilm microbiota composition and risk of dental caries in Swedish adolescents.
      Title: Carbonic Anhydrase 6 Gene Variation influences Oral Microbiota Composition and Caries Risk in Swedish adolescents.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC21256

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in detection of chemical stimulus involved in sensory perception of bitter taste IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    carbonic anhydrase 6
    Names
    carbonate dehydratase VI
    carbonic anhydrase VI
    salivary carbonic anhydrase
    secreted carbonic anhydrase
    NP_001206.2
    NP_001257429.1
    NP_001257430.1
    NP_001257431.1
    XP_011540385.1
    XP_011540386.1
    XP_054194598.1
    XP_054194599.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033975.1 RefSeqGene

      Range
      5035..34259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001215.4 → NP_001206.2  carbonic anhydrase 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001206.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a 308aa isoform (1).
      Source sequence(s)
      AK300652, AL139415, BX282262
      Consensus CDS
      CCDS30578.1
      UniProtKB/Swiss-Prot
      E7EMQ1, P23280, Q5FBW3, Q5FC00, Q96QX8, Q9UF03
      UniProtKB/TrEMBL
      B4DUH8
      Related
      ENSP00000366662.2, ENST00000377443.7
      Conserved Domains (1) summary
      cd03125
      Location:31 → 279
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, followed ...

    2. NM_001270500.2 → NP_001257429.1  carbonic anhydrase 6 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257429.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB102863, AL139415
      Consensus CDS
      CCDS57970.1
      UniProtKB/TrEMBL
      B4DUH8
      Related
      ENSP00000366654.3, ENST00000377436.6
      Conserved Domains (1) summary
      cd03125
      Location:31 → 279
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, followed ...

    3. NM_001270501.2 → NP_001257430.1  carbonic anhydrase 6 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AB103091, AK300652, AL139415, BX282262
      Consensus CDS
      CCDS57971.1
      UniProtKB/Swiss-Prot
      P23280
      UniProtKB/TrEMBL
      B4DUH8
      Related
      ENSP00000366661.2, ENST00000377442.3
      Conserved Domains (1) summary
      cl00012
      Location:25 → 219
      alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

    4. NM_001270502.2 → NP_001257431.1  carbonic anhydrase 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive exons in the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK300652, BX282262, CB956732
      UniProtKB/TrEMBL
      B4DUH8
      Conserved Domains (1) summary
      cl00012
      Location:8 → 151
      alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      8945868..8975092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542084.4 → XP_011540386.1  carbonic anhydrase 6 isoform X1

      UniProtKB/TrEMBL
      B4DUH8
      Conserved Domains (1) summary
      cd03125
      Location:35 → 283
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, followed ...

    2. XM_011542083.4 → XP_011540385.1  carbonic anhydrase 6 isoform X2

      UniProtKB/TrEMBL
      B4DUH8
      Conserved Domains (1) summary
      cd03125
      Location:35 → 283
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon dioxide, followed ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      8479556..8508762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338623.1 → XP_054194598.1  carbonic anhydrase 6 isoform X1

      UniProtKB/TrEMBL
      B4DUH8

    2. XM_054338624.1 → XP_054194599.1  carbonic anhydrase 6 isoform X2

      UniProtKB/TrEMBL
      B4DUH8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23280.3 GenPept UniProtKB/Swiss-Prot:P23280

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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