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CA2 carbonic anhydrase 2 [ Homo sapiens (human) ]

Gene ID: 760, updated on 1-Aug-2020

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

Genomic context

See CA2 in Genome Data Viewer
Location:
8q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (85463902..85481493)
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 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
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

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
arylesterase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbonate dehydratase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001293675.1NP_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 109.20200522

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
    85463902..85481493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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