CA3 (carbonic anhydrase 3) - Rat Genome Database

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Gene: CA3 (carbonic anhydrase 3) Homo sapiens
Analyze
Symbol: CA3
Name: carbonic anhydrase 3
RGD ID: 1353547
HGNC Page HGNC
Description: Predicted to have hydro-lyase activity. Predicted to be involved in one-carbon metabolic process. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-III; CAIII; Car3; carbonate dehydratase III; carbonic anhydrase III; carbonic anhydrase III, muscle specific; carbonic anhydrase IIII; epididymis secretory sperm binding protein Li 167mP; FLJ36434; HEL-S-167mP
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 Ensembl885,373,436 - 85,449,040 (+)EnsemblGRCh38hg38GRCh38
GRCh38885,438,859 - 85,449,040 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37886,351,088 - 86,361,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36886,537,710 - 86,548,526 (+)NCBINCBI36hg18NCBI36
Build 34886,537,709 - 86,548,526NCBI
Celera882,356,136 - 82,366,348 (+)NCBI
Cytogenetic Map8q21.2NCBI
HuRef881,845,249 - 81,855,461 (+)NCBIHuRef
CHM1_1886,402,742 - 86,412,955 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-Hydroxythalidomide  (EXP,ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetazolamide  (EXP)
acrylamide  (EXP)
Actein  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
brinzolamide  (EXP)
bromobenzene  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
celecoxib  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clothianidin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (EXP,ISO)
dibenzo[a,l]pyrene  (EXP)
dichlorine  (ISO)
diclofenac  (ISO)
diclofenamide  (EXP)
dimethylarsinic acid  (ISO)
diuron  (ISO)
doramapimod  (ISO)
dorsomorphin  (EXP)
dorzolamide hydrochloride  (EXP)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethoxzolamide  (EXP)
flavonoids  (ISO)
fonofos  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
graphite  (ISO)
hyaluronic acid  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (ISO)
hydrogencarbonate  (EXP)
hydroquinone  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-methanol  (ISO)
iodide salt  (ISO)
L-cysteine  (ISO)
L-ethionine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
mancozeb  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
metacetamol  (ISO)
methapyrilene  (ISO)
Methazolamide  (EXP)
methimazole  (ISO)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel subsulfide  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
oxycodone  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
potassium bromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
prontosil  (EXP)
propiconazole  (ISO)
quercetin  (ISO)
rac-1,2-dichloropropane  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
saccharin  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sulpiride  (EXP)
tamoxifen  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topiramate  (EXP)
topotecan  (ISO)
trabectedin  (ISO)
triazines  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
valdecoxib  (EXP,ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
XL147  (ISO)
zonisamide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,ISO,TAS)

Molecular Function

References

Additional References at PubMed
PMID:120192   PMID:1361281   PMID:1414196   PMID:1764784   PMID:1905166   PMID:1971453   PMID:2824285   PMID:3000276   PMID:3086182   PMID:3099285   PMID:3106467   PMID:3110380  
PMID:3122635   PMID:3930440   PMID:6119426   PMID:6221502   PMID:6410007   PMID:6770531   PMID:6784712   PMID:7574487   PMID:8506074   PMID:8633035   PMID:9651514   PMID:9890711  
PMID:10845711   PMID:11024467   PMID:11976500   PMID:12171926   PMID:12477932   PMID:12484342   PMID:12745799   PMID:14702039   PMID:15489334   PMID:16099843   PMID:16344560   PMID:17207965  
PMID:18322545   PMID:18444244   PMID:19301202   PMID:21873635   PMID:22797148   PMID:23049597   PMID:23720494   PMID:23824909   PMID:23981757   PMID:24838180   PMID:26847302   PMID:29559661  
PMID:32183030   PMID:32296183   PMID:32777521  


Genomics

Comparative Map Data
CA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl885,373,436 - 85,449,040 (+)EnsemblGRCh38hg38GRCh38
GRCh38885,438,859 - 85,449,040 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37886,351,088 - 86,361,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36886,537,710 - 86,548,526 (+)NCBINCBI36hg18NCBI36
Build 34886,537,709 - 86,548,526NCBI
Celera882,356,136 - 82,366,348 (+)NCBI
Cytogenetic Map8q21.2NCBI
HuRef881,845,249 - 81,855,461 (+)NCBIHuRef
CHM1_1886,402,742 - 86,412,955 (+)NCBICHM1_1
Car3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39314,928,598 - 14,937,441 (+)NCBIGRCm39mm39
GRCm39 Ensembl314,928,572 - 14,937,583 (+)Ensembl
GRCm38314,863,538 - 14,872,381 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl314,863,512 - 14,872,523 (+)EnsemblGRCm38mm10GRCm38
MGSCv37314,863,538 - 14,872,381 (+)NCBIGRCm37mm9NCBIm37
MGSCv36314,840,282 - 14,849,125 (+)NCBImm8
Celera314,876,182 - 14,885,071 (+)NCBICelera
Cytogenetic Map3A1NCBI
cM Map33.22NCBI
Ca3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2286,770,418 - 86,780,011 (-)NCBI
Rnor_6.0 Ensembl288,126,667 - 88,135,410 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0288,126,519 - 88,136,063 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02107,900,433 - 107,909,977 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4288,106,727 - 88,114,686 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1288,050,843 - 88,059,683 (-)NCBI
Celera282,369,065 - 82,377,024 (-)NCBICelera
Cytogenetic Map2q23NCBI
Ca3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554173,362,492 - 3,372,932 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554173,362,091 - 3,372,270 (+)NCBIChiLan1.0ChiLan1.0
CA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1883,574,931 - 83,585,737 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0881,965,041 - 81,976,133 (+)NCBIMhudiblu_PPA_v0panPan3
CA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12931,935,192 - 31,945,585 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2931,935,172 - 31,980,579 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02932,083,862 - 32,094,321 (+)NCBI
UMICH_Zoey_3.12932,135,278 - 32,145,713 (+)NCBI
UNSW_CanFamBas_1.02932,156,474 - 32,166,928 (+)NCBI
UU_Cfam_GSD_1.02932,543,269 - 32,553,756 (+)NCBI
Ca3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530347,444,945 - 47,454,991 (-)NCBI
SpeTri2.0NW_004936544337,437 - 347,760 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl451,219,736 - 51,237,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1451,227,485 - 51,237,861 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2456,190,405 - 56,200,779 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CA3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1880,805,296 - 80,816,127 (+)NCBI
ChlSab1.1 Ensembl880,805,134 - 80,816,190 (+)Ensembl
Ca3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247446,202,151 - 6,211,662 (-)NCBI

Position Markers
G54016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,360,996 - 86,361,175UniSTSGRCh37
Build 36886,548,248 - 86,548,427RGDNCBI36
Celera882,366,075 - 82,366,254RGD
Cytogenetic Map8q21.2UniSTS
HuRef881,855,188 - 81,855,367UniSTS
G60292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,360,410 - 86,360,722UniSTSGRCh37
Build 36886,547,662 - 86,547,974RGDNCBI36
Celera882,365,490 - 82,365,801RGD
Cytogenetic Map8q21.2UniSTS
HuRef881,854,603 - 81,854,914UniSTS
TNG Radiation Hybrid Map842559.0UniSTS
GDB:181594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,351,080 - 86,351,515UniSTSGRCh37
Build 36886,538,332 - 86,538,767RGDNCBI36
Celera882,356,160 - 82,356,595RGD
Cytogenetic Map8q21.2UniSTS
HuRef881,845,273 - 81,845,708UniSTS
SHGC-35614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,360,426 - 86,360,651UniSTSGRCh37
Build 36886,547,678 - 86,547,903RGDNCBI36
Celera882,365,506 - 82,365,730RGD
Cytogenetic Map8q21.2UniSTS
HuRef881,854,619 - 81,854,843UniSTS
GeneMap99-G3 RH Map83337.0UniSTS
WI-16407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37886,361,147 - 86,361,247UniSTSGRCh37
Build 36886,548,399 - 86,548,499RGDNCBI36
Celera882,366,226 - 82,366,326RGD
Cytogenetic Map8q21.2UniSTS
HuRef881,855,339 - 81,855,439UniSTS
GeneMap99-GB4 RH Map8419.36UniSTS
Whitehead-RH Map8521.6UniSTS
D8S1367E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q21.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:608
Count of miRNA genes:507
Interacting mature miRNAs:544
Transcripts:ENST00000285381, ENST00000520921, ENST00000522207
Prediction methods: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 1 469 478 1 1 1 469
Medium 102 254 85 74 57 3 475 406 89 6 227 524 71 1 299 403 1 2
Low 2211 2315 1544 463 1095 373 3254 1182 3406 337 1128 907 93 886 1867 2
Below cutoff 107 413 73 65 635 67 125 126 202 63 79 115 4 19 49 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000285381   ⟹   ENSP00000285381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,438,859 - 85,449,040 (+)Ensembl
RefSeq Acc Id: ENST00000520921   ⟹   ENSP00000429760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,373,436 - 85,442,130 (+)Ensembl
RefSeq Acc Id: ENST00000522207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl885,438,858 - 85,442,433 (+)Ensembl
RefSeq Acc Id: NM_005181   ⟹   NP_005172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,438,859 - 85,449,040 (+)NCBI
GRCh37886,351,056 - 86,361,269 (+)ENTREZGENE
Build 36886,537,710 - 86,548,526 (+)NCBI Archive
HuRef881,845,249 - 81,855,461 (+)ENTREZGENE
CHM1_1886,402,742 - 86,412,955 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005172   ⟸   NM_005181
- UniProtKB: P07451 (UniProtKB/Swiss-Prot),   V9HWA3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429760   ⟸   ENST00000520921
RefSeq Acc Id: ENSP00000285381   ⟸   ENST00000285381
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:7213681
Promoter ID:EPDNEW_H12587
Type:multiple initiation site
Name:CA3_1
Description:carbonic anhydrase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38885,438,859 - 85,438,919EPDNEW
RGD ID:6849960
Promoter ID:EP26020
Type:single initiation site
Name:HS_CA3
Description:Carbonic anhydrase III muscle, CA3 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:muscle, slow (type 1) fibers
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_005181.3(CA3):c.233-550G>A single nucleotide variant Lung cancer [RCV000107813] Chr8:85441523 [GRCh38]
Chr8:86353752 [GRCh37]
Chr8:8q21.2
uncertain significance
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
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
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
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
GRCh37/hg19 8q21.2(chr8:86346299-86836910)x3 copy number gain not provided [RCV000849653] Chr8:86346299..86836910 [GRCh37]
Chr8:8q21.2
uncertain significance
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 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(chr8:85635587-86553130)x3 copy number gain not provided [RCV001006118] Chr8:85635587..86553130 [GRCh37]
Chr8:8q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1374 AgrOrtholog
COSMIC CA3 COSMIC
Ensembl Genes ENSG00000164879 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429760 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520921 UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164879 GTEx
HGNC ID HGNC:1374 ENTREZGENE
Human Proteome Map CA3 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
  Carbonic_anhydrase_CA3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:761 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 761 ENTREZGENE
OMIM 114750 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18952:SF127 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CA3 RGD, 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 A0A024R825_HUMAN UniProtKB/TrEMBL
  CAH3_HUMAN UniProtKB/Swiss-Prot
  E5RHI4_HUMAN UniProtKB/TrEMBL
  P07451 ENTREZGENE
  V9HWA3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R867 UniProtKB/Swiss-Prot
  B3KUC8 UniProtKB/Swiss-Prot
  O60842 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA3  carbonic anhydrase 3  CA3  carbonic anhydrase III  Symbol and/or name change 5135510 APPROVED
2015-02-03 CA3  carbonic anhydrase III  CA3  carbonic anhydrase III, muscle specific  Symbol and/or name change 5135510 APPROVED