Car2 MGI Mouse Gene Detail - MGI:88269

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
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr3:14951333-14965830 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 3.23 cM
Mapping Data

43 experiments

SNPs within 2kb

166 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88269	protein coding gene	Chr3:14951329-14965830 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027079	protein coding gene	Chr3:12027528-12042424 (+)
A/J	MGP_AJ_G0027043	protein coding gene	Chr3:11980167-11994197 (+)
AKR/J	MGP_AKRJ_G0027013	protein coding gene	Chr3:11973141-11987615 (+)
BALB/cJ	MGP_BALBcJ_G0027052	protein coding gene	Chr3:11761832-11775862 (+)
C3H/HeJ	MGP_C3HHeJ_G0026792	protein coding gene	Chr3:12303537-12317567 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027496	protein coding gene	Chr3:12837470-12853700 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024858	protein coding gene	Chr3:10278079-10292220 (+)
CAST/EiJ	MGP_CASTEiJ_G0026250	protein coding gene	Chr3:12321221-12335255 (+)
CBA/J	MGP_CBAJ_G0026770	protein coding gene	Chr3:13060934-13074964 (+)
DBA/2J	MGP_DBA2J_G0026905	protein coding gene	Chr3:11563621-11577653 (+)
FVB/NJ	MGP_FVBNJ_G0026873	protein coding gene	Chr3:11382667-11396683 (+)
LP/J	MGP_LPJ_G0027016	protein coding gene	Chr3:12635871-12652116 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026894	protein coding gene	Chr3:14811581-14829119 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027556	protein coding gene	Chr3:11789330-11803356 (+)
PWK/PhJ	MGP_PWKPhJ_G0025985	protein coding gene	Chr3:11662514-11676754 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025788	protein coding gene	Chr3:11825730-11839849 (+)
WSB/EiJ	MGP_WSBEiJ_G0026321	protein coding gene	Chr3:11865153-11881862 (+)

Human Ortholog

CA2, carbonic anhydrase 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CA2, carbonic anhydrase 2
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

Alliance of Genome Resources

Car2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CA2
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
35 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	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)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

44
GO References

12

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

996
Tissues

215
cDNA Data

242
Literature Summary

33

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CA2

Xenbase ca2

ZFIN ca2, cahz

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

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All Sequences

46
RefSeq

4
UniProt

2
CCDS

CCDS17251.1

Ensembl

ENSMUSG00000027562 (Evidence)
NCBI Gene

12349

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027562	Ensembl Gene Model \| MGI Sequence Detail	14498	C57BL/6J	± kb
transcript	ENSMUST00000029078	Ensembl \| MGI Sequence Detail	1788	Not Applicable
polypeptide	ENSMUSP00000029078	Ensembl \| MGI Sequence Detail	260	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004918 vertebrate-type carbonic anhydrase 2

(term hierarchy)
EC

4.2.1.1
InterPro Domains

IPR001148 Alpha carbonic anhydrase domain

IPR036398 Alpha carbonic anhydrase domain superfamily

IPR023561 Carbonic anhydrase, alpha-class

IPR018338 Carbonic anhydrase, alpha-class, conserved site

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All nucleic 253

Genomic 5

cDNA 243

Primer pair 4

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 149

Developmental Gene Expression 33

Diseases 2

Gene Ontology 12

Phenotypes 35
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:303269 Zepp JA, et al., Genomic, epigenomic, and biophysical cues controlling the emergence of the lung alveolus. Science. 2021 Mar 12;371(6534)

TSS for Car2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr826	Chr3:14951264-14951380 (+)	-11 bp
Tssr827	Chr3:14951478-14951487 (+)	150 bp
Tssr828	Chr3:14951494-14951543 (+)	186 bp
Tssr829	Chr3:14951584-14951629 (+)	274 bp
Tssr830	Chr3:14951665-14951675 (+)	337 bp
Tssr831	Chr3:14951686-14951708 (+)	364 bp
Tssr28466	Chr3:14951743-14951760 (+)	419 bp
Tssr832	Chr3:14951775-14951781 (+)	445 bp
Tssr28467	Chr3:14951875-14951919 (+)	564 bp
Tssr28468	Chr3:14952448-14952476 (+)	1,129 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/14/2021 MGI 6.17