Car12 carbonic anhydrase 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Car12provided by MGI
Official Full Name: carbonic anhydrase 12provided by MGI
Primary source: MGI:MGI:1923709
See related: Ensembl:ENSMUSG00000032373 AllianceGenome:MGI:1923709
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ca12; CA-XII; 2310047E01Rik
Summary: This gene encodes a membrane-bound member of the alpha carbonic anhydrase family of enzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. These proteins participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Biased expression in kidney adult (RPKM 57.2), limb E14.5 (RPKM 7.3) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 C; 9 36.09 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (66619026..66674127)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (66712296..66766845)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

P2Y2R-mediated expression of CAXII by VICs acidifies the extracellular space and promotes the regression of CAVS.
Title: Carbonic anhydrase XII in valve interstitial cells promotes the regression of calcific aortic valve stenosis.
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.
Car4, Car6, and Car12 showed moderate expression levels in the mouse harderian gland.
Title: Carbonic anhydrases in the mouse harderian gland.
High expression in the kidney and colon suggests a role for carbonic anhydrase XII in the maintenance of body ion and pH homeostasis in the mouse.
Title: Expression of hypoxia-inducible, membrane-bound carbonic anhydrase isozyme XII in mouse tissues.
CA12 may regulate ion and pH homeostasis within the developing embryo.
Title: Expression of carbonic anhydrases IX and XII during mouse embryonic development.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (2)
Transposon induced (1) 1 citation

General gene information

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Markers

D9Mit303 (e-PCR), detects polymorphism
- UniSTS:131873

Car12 (e-PCR), detects polymorphism
- UniSTS:506767

AI314958 (e-PCR)
- UniSTS:159891

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within carbon dioxide transport	IC Inferred by Curator more info	PubMed
involved_in chloride ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of pH	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: carbonic anhydrase 12

Names: CA XII; carbonate dehydratase XII; carbonic anhydrase XII

NP_001293077.1

EC 4.2.1.1

NP_848483.3

EC 4.2.1.1

XP_006511611.1

EC 4.2.1.1

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_001306148.1 → NP_001293077.1 carbonic anhydrase 12 isoform 2 precursor

See identical proteins and their annotated locations for NP_001293077.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC134429, AI414285, AK009873, AK052639, BU700194, BX513273, BY236613, CX240181

Consensus CDS

CCDS81026.1

UniProtKB/Swiss-Prot

Q8BKG6, Q8CI85

UniProtKB/TrEMBL

Q8K2J1

Related

ENSMUSP00000082541.6, ENSMUST00000085420.12

Conserved Domains (1) summary

cl00012
Location:39 → 290

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_178396.5 → NP_848483.3 carbonic anhydrase 12 isoform 1 precursor

See identical proteins and their annotated locations for NP_848483.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC134429, AI414285, AK009873, AK052639, BU700194, BX513273, BY236613, CX240181

Consensus CDS

CCDS23306.1

UniProtKB/Swiss-Prot

Q8BKG6, Q8CI85

UniProtKB/TrEMBL

A0A0R4J0W4, Q3TC80

Related

ENSMUSP00000071786.7, ENSMUST00000071889.13

Conserved Domains (1) summary

cl00012
Location:39 → 290

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

66619026..66674127

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511548.5 → XP_006511611.1 carbonic anhydrase 12 isoform X1

UniProtKB/Swiss-Prot

Q8BKG6, Q8CI85

UniProtKB/TrEMBL

Q3TC80

Conserved Domains (1) summary

cl00012
Location:39 → 290

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 ...