Car2 MGI Mouse Gene Detail - MGI:88269

Car2 Gene Detail

Symbol

Car2
Name

carbonic anhydrase 2
Synonyms

CAII, CA II, Car-2, Ltw-5, Lvtw-5

Feature Type

protein coding gene
IDs

MGI:88269
NCBI Gene: 12349
Gene Overview

MyGene.info: CA2

Sequence Map

Chr3:14886273-14900770 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

14498 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 3.23 cM
Mapping Data

42 experiments

Human Ortholog

CA2, carbonic anhydrase 2

Vertebrate Orthologs

9

Human Ortholog

CA2, carbonic anhydrase 2
Orthology source: HomoloGene, HGNC
Synonyms

CAC, CAII, CA-II, Car2, HEL-76, HEL-S-282
Links

HGNC:1373

NCBI Gene ID: 760

neXtProt AC: NX_P00918

UniProt: P00918
Chr Location

8q21.2; chr8:85463902-85481492 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 37256
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: CA2
Protein SuperFamily

carbonate dehydratase
Gene Tree

Car2

Diseases

1 with Car2 mouse models; 1 with human CA2 associations

Human Disease

Mouse Models

autosomal recessive osteopetrosis 3

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

20 phenotypes from 2 alleles in 3 genetic backgrounds
8 phenotypes from multigenic genotypes
1 images
28 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Chemically induced (ENU)

1
Radiation induced

1
Targeted

1
Genomic Mutations

1 involving Car2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

8 strains or lines available

Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency.

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All GO Annotations

37
GO References

12

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

357
Tissues

209
cDNA Data

241
Literature Summary

28

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CA2

Xenbase ca2

ZFIN cahz

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Car2 interacts with 133 markers (Mir15a, Mir19b-1, Mir19b-2, ...) View All

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All Sequences

33
RefSeq

4
UniProt

2
CCDS

CCDS17251.1
UniGene

1186

			Length	Strain/Species	Flank
genomic	OTTMUSG00000051087	VEGA Gene Model \| MGI Sequence Detail	14498	C57BL/6J	± kb
transcript	OTTMUST00000129484	VEGA \| MGI Sequence Detail	1788	Not Applicable
polypeptide	OTTMUSP00000069538	VEGA \| MGI Sequence Detail	260	Not Applicable

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SNPs within 2kb

178 from dbSNP Build 142

RFLP

3

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UniProt

2 Sequences
Protein Ontology

PR:000004918 carbonic anhydrase 2

(term hierarchy)
EC

4.2.1.1
InterPro Domains

IPR001148 Alpha carbonic anhydrase

IPR023561 Carbonic anhydrase, alpha-class

IPR018338 Carbonic anhydrase, alpha-class, conserved site

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All nucleic 251

Genomic 5

cDNA 242

Primer pair 3

Other 1

Microarray probesets 3

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MGD-MRK-11922, MGD-MRK-11945, MGD-MRK-1760, MGD-MRK-1763, MGI:2139632

Summaries

All 130

Developmental Gene Expression 28

Diseases 2

Gene Ontology 12

Phenotypes 28
Earliest

J:5671 Davisson MT, et al., Genes on chromosome 3 of the mouse. J Hered. 1976 May-Jun;67(3):155-6
Latest

J:241013 Grassmeyer J, et al., Elf5 is a principal cell lineage specific transcription factor in the kidney that contributes to Aqp2 and Avpr2 gene expression. Dev Biol. 2017 Apr 01;424(1):77-89

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 08/15/2017 MGI 6.10