CA2 (carbonic anhydrase 2) - Rat Genome Database
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Gene: CA2 (carbonic anhydrase 2) Homo sapiens
Analyze
Symbol: CA2
Name: carbonic anhydrase 2
RGD ID: 737257
HGNC Page HGNC
Description: Exhibits arylesterase activity; carbonate dehydratase activity; and zinc ion binding activity. Involved in angiotensin-activated signaling pathway and regulation of anion transport. Localizes to apical part of cell; cytoplasm; and plasma membrane. Implicated in autosomal recessive osteopetrosis 3 and osteopetrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-II; CAC; CAII; Car2; carbonate dehydratase II; carbonic anhydrase B; carbonic anhydrase C; carbonic anhydrase II; carbonic dehydratase; epididymis luminal protein 76; epididymis secretory protein Li 282; HEL-76; HEL-S-282
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl885,463,968 - 85,481,493 (+)EnsemblGRCh38hg38GRCh38
GRCh38885,464,007 - 85,481,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37886,376,236 - 86,393,722 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37886,376,131 - 86,393,721 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36886,563,383 - 86,580,973 (+)NCBINCBI36hg18NCBI36
Build 34886,563,497 - 86,580,973NCBI
Celera882,381,194 - 82,398,781 (+)NCBI
Cytogenetic Map8q21.2NCBI
HuRef881,870,322 - 81,887,902 (+)NCBIHuRef
CHM1_1886,427,817 - 86,445,411 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-adrenaline  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
1H-1,2,4-triazole  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP)
2,6-di-tert-butylphenol  (EXP)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenyl acetate  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetazolamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
alachlor  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
anthocyanin  (EXP)
anthracen-2-amine  (ISO)
arsenous acid  (EXP)
azathioprine  (ISO)
benomyl  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
brinzolamide  (EXP)
bromobenzene  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (EXP)
cadmium atom  (ISO)
calcitriol  (EXP)
captopril  (ISO)
carbonates  (EXP)
celecoxib  (EXP)
chalcone  (EXP)
chloric acid  (EXP)
chlorpromazine  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP,ISO)
coumestrol  (EXP)
cyclophosphamide  (EXP,ISO)
cyclosporin A  (EXP)
DDE  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenamide  (EXP)
diethylstilbestrol  (EXP,ISO)
disulfiram  (EXP)
dorzolamide hydrochloride  (EXP)
enalapril  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethoxzolamide  (EXP)
famotidine  (EXP)
fenamidone  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
furan  (ISO)
furosemide  (EXP,ISO)
genistein  (EXP,ISO)
guaiacol  (EXP)
hydrazinecarbothioamide  (EXP)
hydrogencarbonate  (EXP)
indometacin  (EXP)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
malvidin 3-O-beta-D-glucoside  (EXP)
malvin  (EXP)
medroxyprogesterone acetate  (EXP)
merbromin  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
Methazolamide  (EXP)
methylamines  (EXP)
methylglyoxal  (ISO)
methylisothiazolinone  (EXP)
molybdate  (EXP)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-phenylthiourea  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitric acid  (EXP)
omeprazole  (ISO)
orphenadrine  (ISO)
oryzalin  (EXP)
oxaliplatin  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pelargonidin 3-O-beta-D-glucoside  (EXP)
pelargonidin 3-O-beta-D-glucoside chloride  (EXP)
pentachlorophenol  (ISO)
perchlorate  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylephrine  (EXP,ISO)
PhIP  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (EXP,ISO)
prontosil  (EXP)
propofol  (EXP)
pyrimidines  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
rubiadin  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silychristin  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (EXP)
sodium hydrogencarbonate  (ISO)
sulfamic acid  (EXP)
sulfates  (EXP)
sulpiride  (EXP)
sunitinib  (EXP)
synephrine  (EXP)
tamoxifen  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thiazolidines  (EXP)
thioacetamide  (ISO)
thiophenes  (EXP)
thiourea  (EXP)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
tioxolone  (EXP)
titanium dioxide  (EXP,ISO)
topiramate  (EXP)
topotecan  (ISO)
trans-chalcone  (EXP)
triazoles  (EXP)
tungstate  (EXP)
tunicamycin  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (EXP)
valproic acid  (EXP)
vanillin  (EXP)
voriconazole  (EXP)
xanthohumol  (ISO)
zearalenone  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)
zonisamide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical part of cell  (IBA,IDA,ISO)
axon  (IEA,ISO)
basolateral plasma membrane  (IEA,ISO)
cytoplasm  (IBA,IDA,ISO)
cytosol  (ISO,TAS)
extracellular exosome  (HDA)
extracellular space  (ISO)
microvillus  (IEA,ISO)
myelin sheath  (ISO)
plasma membrane  (IBA,IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:114507   PMID:823150   PMID:1542674   PMID:1602151   PMID:1925679   PMID:1928091   PMID:1977133   PMID:2117271   PMID:2121671   PMID:2123360   PMID:2850697   PMID:3000449  
PMID:3081869   PMID:3107918   PMID:3108857   PMID:3121496   PMID:3126084   PMID:3151019   PMID:3151020   PMID:3221988   PMID:3925334   PMID:4207120   PMID:4621826   PMID:4624444  
PMID:6407977   PMID:6817747   PMID:7574487   PMID:7627193   PMID:7758465   PMID:7930522   PMID:8127074   PMID:8128957   PMID:8460098   PMID:8834238   PMID:9143915   PMID:9150731  
PMID:9205766   PMID:9336790   PMID:9453381   PMID:9541386   PMID:9774471   PMID:9890926   PMID:10231836   PMID:10333352   PMID:10423017   PMID:10811634   PMID:10820026   PMID:10821857  
PMID:11063570   PMID:11076507   PMID:11264157   PMID:11457932   PMID:11606574   PMID:11956656   PMID:12056894   PMID:12138085   PMID:12171926   PMID:12411514   PMID:12477932   PMID:12501217  
PMID:12566520   PMID:12826902   PMID:12933803   PMID:14567693   PMID:14578124   PMID:14675051   PMID:14675565   PMID:14702039   PMID:14718574   PMID:14736710   PMID:14760703   PMID:15028279  
PMID:15049705   PMID:15062553   PMID:15218065   PMID:15300855   PMID:15453828   PMID:15489334   PMID:15667203   PMID:15836783   PMID:15837316   PMID:15837325   PMID:15952740   PMID:15990874  
PMID:16106378   PMID:16169070   PMID:16265785   PMID:16344560   PMID:16475831   PMID:16687407   PMID:16825953   PMID:16996812   PMID:17202139   PMID:17319692   PMID:17319695   PMID:17363915  
PMID:17631639   PMID:17881426   PMID:18029348   PMID:18060825   PMID:18083150   PMID:18189416   PMID:18247480   PMID:18323598   PMID:18539591   PMID:18580434   PMID:18942852   PMID:18976975  
PMID:19012038   PMID:19034380   PMID:19056867   PMID:19269136   PMID:19371798   PMID:19407386   PMID:19415900   PMID:19520834   PMID:19583303   PMID:19615732   PMID:19634894   PMID:19686046  
PMID:20000378   PMID:20025241   PMID:20081808   PMID:20170095   PMID:20297840   PMID:20360068   PMID:20398423   PMID:20445237   PMID:20445238   PMID:20509747   PMID:20578724   PMID:20634585  
PMID:20637176   PMID:20693695   PMID:20849852   PMID:21145461   PMID:21145876   PMID:21243755   PMID:21282642   PMID:21543742   PMID:21680735   PMID:21873635   PMID:21988105   PMID:22001224  
PMID:22192857   PMID:22386980   PMID:22416960   PMID:22732064   PMID:22878862   PMID:23030313   PMID:23098192   PMID:23181366   PMID:23215152   PMID:23360090   PMID:23376485   PMID:23674848  
PMID:23720494   PMID:23727877   PMID:23737439   PMID:23953824   PMID:24036123   PMID:24670789   PMID:24813993   PMID:24878360   PMID:24999758   PMID:25019941   PMID:25059669   PMID:25147182  
PMID:25165709   PMID:25192599   PMID:25286933   PMID:25400751   PMID:25609088   PMID:25720518   PMID:25849760   PMID:25940091   PMID:26010488   PMID:26041446   PMID:26093313   PMID:26485645  
PMID:26698855   PMID:26756542   PMID:26970563   PMID:27063577   PMID:27129464   PMID:27232456   PMID:27475498   PMID:27688658   PMID:28233447   PMID:28270370   PMID:28445001   PMID:28544359  
PMID:28581483   PMID:28613396   PMID:29090039   PMID:29139171   PMID:29180619   PMID:29309535   PMID:29423818   PMID:29809145   PMID:30066203   PMID:30463901   PMID:30575818   PMID:30948266  
PMID:31046837   PMID:31300519   PMID:31536960   PMID:31638225   PMID:31778702   PMID:31847904   PMID:31978481   PMID:32203420  


Genomics

Comparative Map Data
CA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl885,463,968 - 85,481,493 (+)EnsemblGRCh38hg38GRCh38
GRCh38885,464,007 - 85,481,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37886,376,236 - 86,393,722 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37886,376,131 - 86,393,721 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36886,563,383 - 86,580,973 (+)NCBINCBI36hg18NCBI36
Build 34886,563,497 - 86,580,973NCBI
Celera882,381,194 - 82,398,781 (+)NCBI
Cytogenetic Map8q21.2NCBI
HuRef881,870,322 - 81,887,902 (+)NCBIHuRef
CHM1_1886,427,817 - 86,445,411 (+)NCBICHM1_1
Car2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39314,951,329 - 14,965,830 (+)NCBIGRCm39mm39
GRCm38314,886,269 - 14,900,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl314,886,273 - 14,900,770 (+)EnsemblGRCm38mm10GRCm38
MGSCv37314,886,426 - 14,900,770 (+)NCBIGRCm37mm9NCBIm37
MGSCv36314,863,469 - 14,877,513 (+)NCBImm8
Celera314,899,001 - 14,912,886 (+)NCBICelera
Cytogenetic Map3A1NCBI
cM Map33.23NCBI
Car2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2286,741,625 - 86,756,766 (-)NCBI
Rnor_6.0 Ensembl288,097,720 - 88,113,029 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0288,097,740 - 88,112,868 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02107,871,654 - 107,886,782 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4288,077,095 - 88,092,223 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1288,022,060 - 88,037,185 (-)NCBI
Celera282,339,410 - 82,354,537 (-)NCBICelera
Cytogenetic Map2q23NCBI
Ca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554173,386,087 - 3,402,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554173,388,110 - 3,402,798 (+)NCBIChiLan1.0ChiLan1.0
CA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1883,601,163 - 83,618,327 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl883,597,440 - 83,632,580 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0881,991,037 - 82,009,010 (+)NCBIMhudiblu_PPA_v0panPan3
CA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2931,935,172 - 31,980,579 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12931,959,225 - 31,975,309 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936544362,591 - 379,151 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl451,193,755 - 51,211,259 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1451,194,686 - 51,211,436 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2456,157,606 - 56,174,354 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1880,830,963 - 80,848,245 (+)NCBI
ChlSab1.1 Ensembl880,830,939 - 80,848,707 (+)Ensembl
Ca2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247446,168,030 - 6,183,407 (-)NCBI

Position Markers
G44354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,389,368 - 86,389,468UniSTSGRCh37
Build 36886,576,620 - 86,576,720RGDNCBI36
Celera882,394,426 - 82,394,526RGD
Cytogenetic Map8q22UniSTS
HuRef881,883,547 - 81,883,647UniSTS
G60153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,389,242 - 86,389,548UniSTSGRCh37
Build 36886,576,494 - 86,576,800RGDNCBI36
Celera882,394,300 - 82,394,606RGD
Cytogenetic Map8q22UniSTS
HuRef881,883,421 - 81,883,727UniSTS
TNG Radiation Hybrid Map842569.0UniSTS
D8S1912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,393,190 - 86,393,329UniSTSGRCh37
Build 36886,580,442 - 86,580,581RGDNCBI36
Celera882,398,250 - 82,398,389RGD
Cytogenetic Map8q22UniSTS
HuRef881,887,371 - 81,887,510UniSTS
RH11468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,393,325 - 86,393,425UniSTSGRCh37
Build 36886,580,577 - 86,580,677RGDNCBI36
Celera882,398,385 - 82,398,485RGD
Cytogenetic Map8q22UniSTS
HuRef881,886,165 - 81,887,606UniSTS
HuRef881,887,506 - 81,887,606UniSTS
GeneMap99-GB4 RH Map8419.67UniSTS
D8S1418E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,376,327 - 86,377,598UniSTSGRCh37
Celera882,381,390 - 82,382,661UniSTS
Cytogenetic Map8q22UniSTS
HuRef881,870,518 - 81,871,789UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:736
Count of miRNA genes:498
Interacting mature miRNAs:564
Transcripts:ENST00000285379, ENST00000518231, ENST00000520127, ENST00000520996, ENST00000522742
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 56 2 1 5 1 2 21 3 1
Medium 865 844 1203 591 915 435 2281 904 2737 334 585 1251 165 1 248 1455 3 2
Low 1487 2017 508 23 924 20 1902 1246 940 58 803 270 9 955 1214 3
Below cutoff 26 126 5 4 51 4 143 22 18 4 65 55 1 1 115

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB035747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA431650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000285379   ⟹   ENSP00000285379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,464,007 - 85,481,493 (+)Ensembl
RefSeq Acc Id: ENST00000518231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,464,011 - 85,473,976 (+)Ensembl
RefSeq Acc Id: ENST00000520127   ⟹   ENSP00000428443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,463,968 - 85,480,886 (+)Ensembl
RefSeq Acc Id: ENST00000520996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,464,003 - 85,474,577 (+)Ensembl
RefSeq Acc Id: ENST00000522742   ⟹   ENSP00000428947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,464,014 - 85,477,155 (+)Ensembl
RefSeq Acc Id: NM_000067   ⟹   NP_000058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,464,007 - 85,481,493 (+)NCBI
GRCh37886,376,131 - 86,393,721 (+)ENTREZGENE
Build 36886,563,383 - 86,580,973 (+)NCBI Archive
HuRef881,870,322 - 81,887,902 (+)ENTREZGENE
CHM1_1886,427,817 - 86,445,411 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293675   ⟹   NP_001280604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,464,007 - 85,481,493 (+)NCBI
CHM1_1886,427,817 - 86,445,411 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000058   ⟸   NM_000067
- Peptide Label: isoform 1
- UniProtKB: P00918 (UniProtKB/Swiss-Prot),   V9HW21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280604   ⟸   NM_001293675
- Peptide Label: isoform 2
- UniProtKB: V9HW21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428443   ⟸   ENST00000520127
RefSeq Acc Id: ENSP00000285379   ⟸   ENST00000285379
RefSeq Acc Id: ENSP00000428947   ⟸   ENST00000522742
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:7213687
Promoter ID:EPDNEW_H12588
Type:initiation region
Name:CA2_2
Description:carbonic anhydrase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12589  EPDNEW_H12590  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,463,349 - 85,463,409EPDNEW
RGD ID:7213685
Promoter ID:EPDNEW_H12589
Type:initiation region
Name:CA2_3
Description:carbonic anhydrase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12588  EPDNEW_H12590  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,463,765 - 85,463,825EPDNEW
RGD ID:7213689
Promoter ID:EPDNEW_H12590
Type:multiple initiation site
Name:CA2_1
Description:carbonic anhydrase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12589  EPDNEW_H12588  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,464,007 - 85,464,067EPDNEW
RGD ID:6806551
Promoter ID:HG_KWN:61628
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:NM_000067
Position:
Human AssemblyChrPosition (strand)Source
Build 36886,562,811 - 86,563,587 (+)MPROMDB
RGD ID:6849946
Promoter ID:EP68001
Type:single initiation site
Name:HS_CA2
Description:Carbonic anhydrase II.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 238; Carbonic anhydrase II.
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36886,563,488 - 86,563,548EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) single nucleotide variant CARBONIC ANHYDRASE II VARIANT [RCV000000961]|Osteopetrosis with renal tubular acidosis [RCV000328868]|not provided [RCV000961873] Chr8:85480760 [GRCh38]
Chr8:86392989 [GRCh37]
Chr8:8q21.2
pathogenic|benign|likely benign
NM_000067.3(CA2):c.52A>G (p.Lys18Glu) single nucleotide variant CARBONIC ANHYDRASE II VARIANT [RCV000000962] Chr8:85465289 [GRCh38]
Chr8:86377518 [GRCh37]
Chr8:8q21.2
pathogenic
NM_000067.3(CA2):c.707C>A (p.Pro236His) single nucleotide variant CARBONIC ANHYDRASE II VARIANT [RCV000000963] Chr8:85480713 [GRCh38]
Chr8:86392942 [GRCh37]
Chr8:8q21.2
pathogenic
NM_000067.3(CA2):c.319C>T (p.His107Tyr) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000000964] Chr8:85473779 [GRCh38]
Chr8:86386008 [GRCh37]
Chr8:8q21.2
pathogenic
CA2, IVS5AS, G-C, -1 single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000000965] Chr8:8q22 pathogenic
CA2, IVS2DS, G-A, +1 single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000000966] Chr8:8q22 pathogenic
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000000967] Chr8:85465357 [GRCh38]
Chr8:86377586 [GRCh37]
Chr8:8q21.2
pathogenic
CA2, 1-BP DEL, 207C deletion Osteopetrosis with renal tubular acidosis [RCV000000968] Chr8:8q22 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
NM_000067.2(CA2):c.270G>A (p.Leu90=) single nucleotide variant Malignant melanoma [RCV000068423] Chr8:85473730 [GRCh38]
Chr8:86385959 [GRCh37]
Chr8:86573211 [NCBI36]
Chr8:8q21.2
not provided
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1 copy number loss See cases [RCV000136883] Chr8:84246857..85606287 [GRCh38]
Chr8:85159092..86518516 [GRCh37]
Chr8:85321647..86705768 [NCBI36]
Chr8:8q21.2
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3 copy number gain See cases [RCV000143246] Chr8:83721453..87866414 [GRCh38]
Chr8:84633688..88878642 [GRCh37]
Chr8:84796243..88947758 [NCBI36]
Chr8:8q21.2-21.3
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_000067.3(CA2):c.35-7C>A single nucleotide variant not provided [RCV000175517] Chr8:85465265 [GRCh38]
Chr8:86377494 [GRCh37]
Chr8:8q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000067.3(CA2):c.677G>A (p.Arg226His) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001159040]|not provided [RCV000179708] Chr8:85480683 [GRCh38]
Chr8:86392912 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.232+1G>A single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000373455]|not provided [RCV000726247] Chr8:85465470 [GRCh38]
Chr8:86377699 [GRCh37]
Chr8:8q21.2
pathogenic
NM_000067.3(CA2):c.562T>C (p.Leu188=) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000386953]|not specified [RCV000242714] Chr8:85477174 [GRCh38]
Chr8:86389403 [GRCh37]
Chr8:8q21.2
benign
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000369624] Chr8:85465277 [GRCh38]
Chr8:86377506 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*212A>G single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000289207] Chr8:85481001 [GRCh38]
Chr8:86393230 [GRCh37]
Chr8:8q21.2
benign|likely benign
NM_000067.3(CA2):c.648C>T (p.Ser216=) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000290204]|not provided [RCV000910104] Chr8:85477260 [GRCh38]
Chr8:86389489 [GRCh37]
Chr8:8q21.2
benign|likely benign|uncertain significance
NM_001293675.1(CA2):c.-314C>A single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000356455] Chr8:85463952 [GRCh38]
Chr8:86376181 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*17G>A single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000381335] Chr8:85480806 [GRCh38]
Chr8:86393035 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_001293675.1(CA2):c.-322G>A single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000299313] Chr8:85463944 [GRCh38]
Chr8:86376173 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*303C>T single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000341972] Chr8:85481092 [GRCh38]
Chr8:86393321 [GRCh37]
Chr8:8q21.2
benign|uncertain significance
NM_001293675.1(CA2):c.-268_-266dup duplication Osteopetrosis with renal tubular acidosis [RCV000259639] Chr8:85463997..85463998 [GRCh38]
Chr8:86376226..86376227 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*465A>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000283473] Chr8:85481254 [GRCh38]
Chr8:86393483 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.508-7G>A single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000277175] Chr8:85477113 [GRCh38]
Chr8:86389342 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.660G>A (p.Glu220=) single nucleotide variant not provided [RCV000333437] Chr8:85477272 [GRCh38]
Chr8:86389501 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) single nucleotide variant not provided [RCV000723179] Chr8:85477187 [GRCh38]
Chr8:86389416 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000330141] Chr8:85477151 [GRCh38]
Chr8:86389380 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_001293675.1(CA2):c.-360C>T single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000401229] Chr8:85463906 [GRCh38]
Chr8:86376135 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.-53G>T single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000317269] Chr8:85464029 [GRCh38]
Chr8:86376258 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.2(CA2):c.-181A>T single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000363093] Chr8:85463901 [GRCh38]
Chr8:86376130 [GRCh37]
Chr8:8q21.2
benign
NM_000067.3(CA2):c.*562T>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000340863] Chr8:85481351 [GRCh38]
Chr8:86393580 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*374A>G single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000396538] Chr8:85481163 [GRCh38]
Chr8:86393392 [GRCh37]
Chr8:8q21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000625902] Chr8:85464102 [GRCh38]
Chr8:86376331 [GRCh37]
Chr8:8q21.2
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000067.3(CA2):c.462G>A (p.Pro154=) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163962] Chr8:85475815 [GRCh38]
Chr8:86388044 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.549C>G (p.Leu183=) single nucleotide variant not provided [RCV000903768] Chr8:85477161 [GRCh38]
Chr8:86389390 [GRCh37]
Chr8:8q21.2
likely benign
NM_000067.3(CA2):c.139_142CTGT[1] (p.Ser48fs) microsatellite Osteopetrosis with renal tubular acidosis [RCV000779563] Chr8:85465376..85465379 [GRCh38]
Chr8:86377605..86377608 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.681del (p.Lys227fs) deletion Osteopetrosis with renal tubular acidosis [RCV000779564] Chr8:85480685 [GRCh38]
Chr8:86392914 [GRCh37]
Chr8:8q21.2
likely pathogenic
NM_000067.3(CA2):c.139C>T (p.Leu47=) single nucleotide variant not provided [RCV000981810] Chr8:85465376 [GRCh38]
Chr8:86377605 [GRCh37]
Chr8:8q21.2
likely benign
NM_000067.3(CA2):c.681A>G (p.Lys227=) single nucleotide variant not provided [RCV000949527] Chr8:85480687 [GRCh38]
Chr8:86392916 [GRCh37]
Chr8:8q21.2
likely benign
GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1 copy number loss not provided [RCV000845762] Chr8:84358585..89159915 [GRCh37]
Chr8:8q21.13-21.3
uncertain significance
GRCh37/hg19 8q21.2(chr8:86346299-86836910)x3 copy number gain not provided [RCV000849653] Chr8:86346299..86836910 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.87C>T (p.Ser29=) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163960] Chr8:85465324 [GRCh38]
Chr8:86377553 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.192T>C (p.His64=) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163961] Chr8:85465429 [GRCh38]
Chr8:86377658 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.649G>A (p.Val217Ile) single nucleotide variant not provided [RCV001054735] Chr8:85477261 [GRCh38]
Chr8:86389490 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.183C>T (p.Asn61=) single nucleotide variant not provided [RCV000918550] Chr8:85465420 [GRCh38]
Chr8:86377649 [GRCh37]
Chr8:8q21.2
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q21.2(chr8:86358419-86494259)x1 copy number loss not provided [RCV000846817] Chr8:86358419..86494259 [GRCh37]
Chr8:8q21.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV000991390] Chr8:85477191 [GRCh38]
Chr8:86389420 [GRCh37]
Chr8:8q21.2
likely pathogenic
NM_000067.3(CA2):c.*173T>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001159041] Chr8:85480962 [GRCh38]
Chr8:86393191 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001250415] Chr8:85473735 [GRCh38]
Chr8:86385964 [GRCh37]
Chr8:8q21.2
likely pathogenic
NM_000067.3(CA2):c.*535T>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001160378] Chr8:85481324 [GRCh38]
Chr8:86393553 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.618G>A (p.Val206=) single nucleotide variant not provided [RCV000889200] Chr8:85477230 [GRCh38]
Chr8:86389459 [GRCh37]
Chr8:8q21.2
benign
GRCh37/hg19 8q21.2(chr8:85635587-86553130)x3 copy number gain not provided [RCV001006118] Chr8:85635587..86553130 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.*624T>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001160379] Chr8:85481413 [GRCh38]
Chr8:86393642 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.-43G>C single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163653] Chr8:85464039 [GRCh38]
Chr8:86376268 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163654] Chr8:85465311 [GRCh38]
Chr8:86377540 [GRCh37]
Chr8:8q21.2
uncertain significance
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) single nucleotide variant Osteopetrosis with renal tubular acidosis [RCV001163963] Chr8:85475825 [GRCh38]
Chr8:86388054 [GRCh37]
Chr8:8q21.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1373 AgrOrtholog
COSMIC CA2 COSMIC
Ensembl Genes ENSG00000104267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285379 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428443 UniProtKB/TrEMBL
  ENSP00000428947 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285379 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520127 UniProtKB/TrEMBL
  ENST00000522742 UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104267 GTEx
HGNC ID HGNC:1373 ENTREZGENE
Human Proteome Map CA2 Human Proteome Map
InterPro CA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carbonic_anhydrase_a-class UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carbonic_anhydrase_a-class_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 760 ENTREZGENE
OMIM 259730 OMIM
  611492 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25989 PharmGKB
PROSITE ALPHA_CA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALPHA_CA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CAH2_HUMAN UniProtKB/Swiss-Prot
  E5RID5_HUMAN UniProtKB/TrEMBL
  E5RK37_HUMAN UniProtKB/TrEMBL
  P00918 ENTREZGENE
  V9HW21 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R7G8 UniProtKB/Swiss-Prot
  Q6FI12 UniProtKB/Swiss-Prot
  Q96ET9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA2  carbonic anhydrase 2    carbonic anhydrase II  Symbol and/or name change 5135510 APPROVED