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CA6 carbonic anhydrase 6 [ Homo sapiens (human) ]

Gene ID: 765, updated on 23-Nov-2023

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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8945868..8975092)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8479556..8508762)
105.20220307 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. Association between Carbonic Anhydrase VI Gene Copy Number Variations and Dental Caries Experience. Al-Mahdi R, et al. Caries Res, 2023. PMID 37011600
  2. Associations of the activity and concentration of carbonic anhydrase VI with susceptibility to dental caries: A systematic review and meta-analysis. Al-Mahdi R, et al. Clin Exp Dent Res, 2023 Apr. PMID 36815304, Free PMC Article
  3. 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. de Sousa ET, et al. Clin Oral Investig, 2021 May. PMID 32918121
  4. Investigation of carbonic anhydrase 6 gene polymorphism rs2274327 in relation to the oral health status and salivary composition in type 2 diabetic patients. Mrag M, et al. Acta Odontol Scand, 2020 Nov. PMID 32319846
  5. Polymorphism in the CAVI gene, salivary properties and dental caries. Piekoszewska-Ziętek P, et al. Acta Odontol Scand, 2020 May. PMID 32013665

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Polymorphism in the CAVI gene can affect salivary properties but there is no direct connection with dental caries.
    Title: Polymorphism in the CAVI gene, salivary properties and dental caries.
  8. The current study suggests that genetic variation in TAS2R38 and CA6 influences picky eating in preschoolers.
    Title: Variants in Chemosensory Genes Are Associated with Picky Eating Behavior in Preschool-Age Children.
  9. Anti-CA6 was the most prevalent novel autoantibody in patients with dry eye, and was associated with younger age and more severe disease. Longitudinal studies are needed to determine whether anti-CA6 is a marker for early Sjogren's syndrome.
    Title: Utility of Novel Autoantibodies in the Diagnosis of Sjögren's Syndrome Among Patients With Dry Eye.
  10. CA6 is a specific marker for serous acinar cells of salivary glands and acinic cell carcinoma (AciCC).
    Title: 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.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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)

Genotypes

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 
involved_in one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
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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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_2023_10

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

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