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    CA2 carbonic anhydrase 2 [ Homo sapiens (human) ]

    Gene ID: 760, updated on 23-Apr-2017
    Official Symbol
    CA2provided by HGNC
    Official Full Name
    carbonic anhydrase 2provided by HGNC
    Primary source
    HGNC:HGNC:1373
    See related
    Ensembl:ENSG00000104267 MIM:611492; Vega:OTTHUMG00000164944
    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]
    Orthologs
    Location:
    8q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (85463902..85481492)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86376131..86393721)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 1 Neighboring gene CA3 antisense RNA 1 Neighboring gene carbonic anhydrase 3 Neighboring gene uncharacterized LOC105375937 Neighboring gene REX1, RNA exonuclease 1 homolog-like 8, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Osteopetrosis with renal tubular acidosis
    MedGen: C0345407 OMIM: 259730 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    NHGRI GWA Catalog

    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

    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
      Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Collecting duct acid secretion, conserved biosystem (from KEGG)
      Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
      Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
    • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
      Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Nitrogen metabolism, organism-specific biosystem (from KEGG)
      Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
    • Nitrogen metabolism, conserved biosystem (from KEGG)
      Nitrogen metabolism, conserved biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
    • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
      O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Reversible hydration of carbon dioxide, organism-specific biosystem (from REACTOME)
      Reversible hydration of carbon dioxide, organism-specific biosystemCarbonic anhydrases reversibly catalyze the hydration of carbon dioxide and directly produce bicarbonate and protons, bypassing the formation of carbonic acid (reviewed in Lindskog 1997, Breton 2001,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arylesterase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carbonate dehydratase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carbonate dehydratase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    angiotensin-activated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    carbon dioxide transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of dipeptide transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of anion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    secretion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      4886..22476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000067.2NP_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)
      DA431650, J03037, M36532
      Consensus CDS
      CCDS6239.1
      UniProtKB/Swiss-Prot
      P00918
      UniProtKB/TrEMBL
      V9HW21
      Related
      ENSP00000285379.4, OTTHUMP00000227991, ENST00000285379.9, OTTHUMT00000381097
      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_001293675.1NP_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)
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      85463902..85481492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      86427817..86445411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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