Car2 carbonic anhydrase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Car2provided by MGI
Official Full Name: carbonic anhydrase 2provided by MGI
Primary source: MGI:MGI:88269
See related: Ensembl:ENSMUSG00000027562 AllianceGenome:MGI:88269
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ca2; CAII; Car-2; Ltw-5; Lvtw-5
Summary: Enables carbonate dehydratase activity. Involved in positive regulation of dipeptide transmembrane transport and regulation of intracellular pH. Acts upstream of or within several processes, including carbon dioxide transport; positive regulation of GABAergic synaptic transmission; and positive regulation of cellular pH reduction. Located in cytosol and myelin sheath. Is expressed in several structures, including alimentary system; brain; heart; metanephros; and sensory organ. Used to study autosomal recessive osteopetrosis 3. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 3 and osteopetrosis. Orthologous to human CA2 (carbonic anhydrase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14 (RPKM 556.3), liver E14.5 (RPKM 538.2) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 A1; 3 3.23 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (14951329..14965830)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (14886269..14900770)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carbonic Anhydrase 2 Deletion Delays the Growth of Kidney Cysts Whereas Foxi1 Deletion Completely Abrogates Cystogenesis in TSC.
Title: Carbonic Anhydrase 2 Deletion Delays the Growth of Kidney Cysts Whereas Foxi1 Deletion Completely Abrogates Cystogenesis in TSC.
Carbonic anhydrase II deficiency.
Title: Carbonic anhydrase II deficiency.
Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex.
Title: Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex.
NHE1 and carbonic anhydrase II form a metabolon complex, which was exacerbated in diabetic cardiomyopathy myocardium.
Title: Carbonic anhydrase II/sodium-proton exchanger 1 metabolon complex in cardiomyopathy of ob(-/-) type 2 diabetic mice.
It was concluded that both MCT1 and CAII are involved in the homeostatic control of pH in skeletal muscle, both at rest and at the onset of exercise. The improved muscle function and resistance to fatigue in MCT1(+/-) mice remain unexplained.
Title: Role of MCT1 and CAII in skeletal muscle pH homeostasis, energetics, and function: in vivo insights from MCT1 haploinsufficient mice.
two CA isoforms, CAII and CAIV, are distributed along the epididymal epithelium and appear with the onset of puberty
Title: Normal Fertility Requires the Expression of Carbonic Anhydrases II and IV in Sperm.
The Na(+)-Cl(-) cotransporter NCC /Carbonic anhydrase II double Knockout mice displayed significant downregulation of pendrin, along with polyuria and salt wasting.
Title: Double knockout of carbonic anhydrase II (CAII) and Na(+)-Cl(-) cotransporter (NCC) causes salt wasting and volume depletion.
CA2 expression is strongly regulated by intracellular pH and by cAMP, suggesting a role for soluble adenylyl cyclase
Title: Cyclic AMP and alkaline pH downregulate carbonic anhydrase 2 in mouse fibroblasts.
sclerostin upregulated osteocyte expression of carbonic anhydrase 2.
Title: Sclerostin regulates release of bone mineral by osteocytes by induction of carbonic anhydrase 2.
During inner ear development, transcripts of four cytosolic isozymes (Car1, Car2, Car3, and Car13), two membrane-bound isozymes (Car12 and Car14), and two CA-related proteins (Car8 and Car11) were expressed at higher levels than other isozymes.
Title: A systematic survey of carbonic anhydrase mRNA expression during mammalian inner ear development.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Car2 (e-PCR), detects polymorphism
- UniSTS:239209

Car2 (e-PCR), detects polymorphism
- UniSTS:545905

AI131712 (e-PCR)
- UniSTS:178807

K00811 (e-PCR)
- UniSTS:159096

Car2 (e-PCR), detects polymorphism
- UniSTS:506771

AW533290 (e-PCR)
- UniSTS:245973

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables arylesterase activity	IEA Inferred from Electronic Annotation more info
enables arylesterase activity	ISO Inferred from Sequence Orthology more info
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonate dehydratase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables carbonate dehydratase activity	ISO Inferred from Sequence Orthology more info
enables cyanamide hydratase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in angiotensin-activated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in angiotensin-activated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbon dioxide transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within carbon dioxide transport	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within carbon dioxide transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of bone resorption	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cellular pH reduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cellular pH reduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dipeptide transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoclast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of synaptic transmission, GABAergic	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic anion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of monoatomic anion transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of pH	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: carbonic anhydrase 2

Names: carbonate dehydratase II; carbonic anhydrase II; cyanamide hydratase CA2

NP_001344263.1

EC 4.2.1.1

EC 4.2.1.69

NP_033931.4

EC 4.2.1.1

EC 4.2.1.69

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.

mRNA and Protein(s)

NM_001357334.1 → NP_001344263.1 carbonic anhydrase 2

Status: VALIDATED

Source sequence(s)

AC098725, AC123747, CD774528, CK618053

Consensus CDS

CCDS17251.1

UniProtKB/Swiss-Prot

P00920, Q6LDQ7, Q7TPE1, Q9DCT3, Q9DCY9

Conserved Domains (1) summary

cl00012
Location:1 → 259

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 ...
NM_009801.5 → NP_033931.4 carbonic anhydrase 2

See identical proteins and their annotated locations for NP_033931.4

Status: VALIDATED

Source sequence(s)

AC123747, AK002333, CD774528

Consensus CDS

CCDS17251.1

UniProtKB/Swiss-Prot

P00920, Q6LDQ7, Q7TPE1, Q9DCT3, Q9DCY9

Related

ENSMUSP00000029078.8, ENSMUST00000029078.9

Conserved Domains (1) summary

cl00012
Location:1 → 259

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 ...