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    CA2 carbonic anhydrase 2 [ Homo sapiens (human) ]

    Gene ID: 760, updated on 8-Jul-2021

    Summary

    Official Symbol
    CA2provided by HGNC
    Official Full Name
    carbonic anhydrase 2provided by HGNC
    Primary source
    HGNC:HGNC:1373
    See related
    Ensembl:ENSG00000104267 MIM:611492
    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
    CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282
    Summary
    The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
    Expression
    Biased expression in stomach (RPKM 493.8), colon (RPKM 349.1) and 8 other tissues See more
    Orthologs
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    Genomic context

    See CA2 in Genome Data Viewer
    Location:
    8q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (85464007..85481493)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86376236..86393722)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 1 Neighboring gene CA1 upstream erythroid promoter Neighboring gene CA3 antisense RNA 1 Neighboring gene carbonic anhydrase 3 Neighboring gene uncharacterized LOC105375937 Neighboring gene REXO1 like 8, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    GeneReviews: Not available
    Osteopetrosis with renal tubular acidosis
    MedGen: C0345407 OMIM: 259730 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of carbonic anhydrase II (CA2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylesterase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables carbonate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables carbonate dehydratase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiotensin-activated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carbon dioxide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in one-carbon metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of dipeptide transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of anion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of intracellular pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    carbonic anhydrase 2
    Names
    carbonate dehydratase II
    carbonic anhydrase B
    carbonic anhydrase C
    carbonic anhydrase II
    carbonic dehydratase
    epididymis luminal protein 76
    epididymis secretory protein Li 282
    NP_000058.1
    NP_001280604.1

    NCBI Reference Sequences (RefSeq)

    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_007287.1 RefSeqGene

      Range
      4991..22477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000067.3NP_000058.1  carbonic anhydrase 2 isoform 1

      See identical proteins and their annotated locations for NP_000058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC084734, DA431650, J03037, M36532
      Consensus CDS
      CCDS6239.1
      UniProtKB/Swiss-Prot
      P00918
      UniProtKB/TrEMBL
      V9HW21
      Related
      ENSP00000285379.4, ENST00000285379.10
      Conserved Domains (1) summary
      cd03119
      Location:1259
      alpha_CA_I_II_III_XIII; Carbonic anhydrase alpha, isozymes I, II, and III and XIII. 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 ...
    2. NM_001293675.2NP_001280604.1  carbonic anhydrase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon and initiates translation at a downstream AUG compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC084734, CD013933, FJ224289
      UniProtKB/TrEMBL
      V9HW21
      Conserved Domains (1) summary
      cl00012
      Location:16158
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      85464007..85481493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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