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CA2 carbonic anhydrase 2 [ Homo sapiens (human) ]

Gene ID: 760, updated on 29-May-2016
Official Symbol
CA2provided by HGNC
Official Full Name
carbonic anhydrase 2provided by HGNC
Primary source
HGNC:HGNC:1373
See related
Ensembl:ENSG00000104267 HPRD:02023; 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:
8q22
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 Neighboring gene REX1, RNA exonuclease 1 homolog-like 3, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Osteopetrosis with renal tubular acidosis
MedGen: C0345407 OMIM: 259730 GeneReviews: Not available
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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 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, OTTHUMP00000227991, ENST00000285379, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 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)