CA12 (carbonic anhydrase 12) - Rat Genome Database

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Gene: CA12 (carbonic anhydrase 12) Homo sapiens
Analyze
Symbol: CA12
Name: carbonic anhydrase 12
RGD ID: 1315327
HGNC Page HGNC
Description: Predicted to have carbonate dehydratase activity. Involved in chloride ion homeostasis. Predicted to localize to plasma membrane. Implicated in isolated hyperchlorhidrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-XII; carbonate dehydratase XII; carbonic anhydrase XII; carbonic dehydratase; CAXII; FLJ20151; HsT18816; T18816; tumor antigen HOM-RCC-3.1.3
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 Ensembl1563,321,378 - 63,381,846 (-)EnsemblGRCh38hg38GRCh38
GRCh381563,321,378 - 63,381,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371563,613,577 - 63,674,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361561,402,783 - 61,461,128 (-)NCBINCBI36hg18NCBI36
Celera1540,494,364 - 40,552,718 (-)NCBI
Cytogenetic Map15q22.2NCBI
HuRef1540,438,444 - 40,496,766 (-)NCBIHuRef
CHM1_11563,732,628 - 63,793,404 (-)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
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
4-hydroxynon-2-enal  (ISO)
4-methylumbelliferyl beta-D-galactoside  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acetazolamide  (EXP)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bosentan  (EXP)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcitriol  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clomiphene  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (EXP)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
estrone  (EXP)
famotidine  (EXP)
fipronil  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glyphosate  (ISO)
hexestrol  (EXP)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
menadione  (EXP)
mestranol  (EXP)
mifepristone  (EXP)
N,N-diethyl-m-toluamide  (EXP)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
oryzalin  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP,ISO)
progesterone  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
tamoxifen  (EXP)
topiramate  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8524854   PMID:9636197   PMID:9770531   PMID:10512682   PMID:10611263   PMID:10666387   PMID:11083462   PMID:11101628   PMID:11238049   PMID:11420383   PMID:11493685   PMID:11680594  
PMID:12477932   PMID:12676895   PMID:12854129   PMID:12923247   PMID:14578124   PMID:14702039   PMID:15489334   PMID:15849821   PMID:16169070   PMID:16344560   PMID:16416108   PMID:18029348  
PMID:18322268   PMID:18336315   PMID:18451179   PMID:19291313   PMID:19490893   PMID:20132413   PMID:20215053   PMID:20398423   PMID:20434230   PMID:20509747   PMID:21035102   PMID:21040567  
PMID:21184099   PMID:21278619   PMID:21873635   PMID:21900206   PMID:22172588   PMID:22439015   PMID:22944692   PMID:23348702   PMID:23383108   PMID:23910904   PMID:24667918   PMID:24878360  
PMID:25686827   PMID:26276155   PMID:26486891   PMID:26901836   PMID:26911677   PMID:27688658   PMID:28514442   PMID:29180619   PMID:29676528   PMID:29965974   PMID:30066203   PMID:30132883  
PMID:30452451   PMID:30632488   PMID:30784287   PMID:31221477   PMID:31366496   PMID:31979064   PMID:33845483  


Genomics

Comparative Map Data
CA12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1563,321,378 - 63,381,846 (-)EnsemblGRCh38hg38GRCh38
GRCh381563,321,378 - 63,381,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371563,613,577 - 63,674,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361561,402,783 - 61,461,128 (-)NCBINCBI36hg18NCBI36
Celera1540,494,364 - 40,552,718 (-)NCBI
Cytogenetic Map15q22.2NCBI
HuRef1540,438,444 - 40,496,766 (-)NCBIHuRef
CHM1_11563,732,628 - 63,793,404 (-)NCBICHM1_1
Car12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39966,619,026 - 66,674,127 (+)NCBIGRCm39mm39
GRCm39 Ensembl966,620,968 - 66,674,127 (+)Ensembl
GRCm38966,712,296 - 66,766,845 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl966,713,686 - 66,766,845 (+)EnsemblGRCm38mm10GRCm38
MGSCv37966,561,493 - 66,614,652 (+)NCBIGRCm37mm9NCBIm37
MGSCv36966,512,886 - 66,565,989 (+)NCBImm8
Celera963,948,029 - 64,000,964 (+)NCBICelera
Cytogenetic Map9CNCBI
Ca12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2867,274,739 - 67,330,428 (+)NCBI
Rnor_6.0 Ensembl872,405,748 - 72,460,240 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0872,405,770 - 72,461,425 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0872,071,988 - 72,127,646 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4871,017,732 - 71,070,729 (+)NCBIRGSC3.4rn4RGSC3.4
Celera866,660,144 - 66,713,076 (+)NCBICelera
Cytogenetic Map8q24NCBI
Ca12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545011,943,340 - 11,975,928 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545011,927,730 - 11,975,553 (+)NCBIChiLan1.0ChiLan1.0
CA12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11560,565,592 - 60,624,008 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1560,565,592 - 60,624,008 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01542,270,188 - 42,328,952 (-)NCBIMhudiblu_PPA_v0panPan3
CA12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13027,903,460 - 27,957,162 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3027,905,837 - 27,957,742 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3027,822,431 - 27,876,096 (-)NCBI
ROS_Cfam_1.03028,075,321 - 28,129,041 (-)NCBI
UMICH_Zoey_3.13028,012,749 - 28,066,343 (-)NCBI
UNSW_CanFamBas_1.03028,074,625 - 28,128,260 (-)NCBI
UU_Cfam_GSD_1.03028,311,867 - 28,365,995 (-)NCBI
Ca12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640106,028,826 - 106,081,389 (-)NCBI
SpeTri2.0NW_00493647123,876,889 - 23,929,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1108,649,271 - 108,710,651 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11108,649,277 - 108,710,658 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21119,822,275 - 119,904,112 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CA12
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12620,162,706 - 20,221,680 (+)NCBI
ChlSab1.1 Ensembl2620,162,926 - 20,224,502 (+)Ensembl
Ca12
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247819,140,753 - 9,195,651 (+)NCBI

Position Markers
RH47249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,617,213 - 63,617,338UniSTSGRCh37
Build 361561,404,266 - 61,404,391RGDNCBI36
Celera1540,495,847 - 40,495,972RGD
Cytogenetic Map15q22UniSTS
HuRef1540,439,927 - 40,440,052UniSTS
GeneMap99-GB4 RH Map15224.23UniSTS
NCBI RH Map15360.5UniSTS
SHGC-144530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,625,882 - 63,626,169UniSTSGRCh37
Build 361561,412,935 - 61,413,222RGDNCBI36
Celera1540,504,517 - 40,504,804RGD
Cytogenetic Map15q22UniSTS
HuRef1540,448,597 - 40,448,884UniSTS
TNG Radiation Hybrid Map1523375.0UniSTS
SHGC-147205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,663,707 - 63,664,025UniSTSGRCh37
Build 361561,450,760 - 61,451,078RGDNCBI36
Celera1540,542,345 - 40,542,663RGD
Cytogenetic Map15q22UniSTS
HuRef1540,486,379 - 40,486,697UniSTS
TNG Radiation Hybrid Map1523337.0UniSTS
SHGC-32776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,617,213 - 63,617,340UniSTSGRCh37
Build 361561,404,266 - 61,404,393RGDNCBI36
Celera1540,495,847 - 40,495,974RGD
Cytogenetic Map15q22UniSTS
HuRef1540,439,927 - 40,440,054UniSTS
Stanford-G3 RH Map151971.0UniSTS
GeneMap99-GB4 RH Map15227.31UniSTS
Whitehead-RH Map15223.3UniSTS
NCBI RH Map15355.9UniSTS
GeneMap99-G3 RH Map151971.0UniSTS
D15S1357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,666,390 - 63,666,581UniSTSGRCh37
Build 361561,453,443 - 61,453,634RGDNCBI36
Celera1540,545,029 - 40,545,220RGD
Cytogenetic Map15q22UniSTS
HuRef1540,489,064 - 40,489,255UniSTS
Stanford-G3 RH Map151990.0UniSTS
NCBI RH Map15362.5UniSTS
CA12_8238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,616,864 - 63,617,771UniSTSGRCh37
Build 361561,403,917 - 61,404,824RGDNCBI36
Celera1540,495,498 - 40,496,405RGD
HuRef1540,439,578 - 40,440,485UniSTS
SHGC-36693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,615,934 - 63,616,070UniSTSGRCh37
Build 361561,402,987 - 61,403,123RGDNCBI36
Celera1540,494,568 - 40,494,704RGD
Cytogenetic Map15q22UniSTS
HuRef1540,438,648 - 40,438,784UniSTS
GeneMap99-G3 RH Map151971.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4839
Count of miRNA genes:1223
Interacting mature miRNAs:1537
Transcripts:ENST00000178638, ENST00000344366, ENST00000422263, ENST00000558287, ENST00000560293, ENST00000560666
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 1 1 1 13
Medium 820 469 191 191 88 38 1663 226 812 373 495 203 159 1 353 808 1
Low 1484 1299 983 144 579 136 1649 769 2466 27 808 1220 15 831 987 4 2
Below cutoff 122 1207 504 244 845 245 1029 1185 455 3 154 167 20 991 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF051882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM994285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ440047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU630152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU944741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA309380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA509400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA546357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000178638   ⟹   ENSP00000178638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,321,378 - 63,381,846 (-)Ensembl
RefSeq Acc Id: ENST00000344366   ⟹   ENSP00000343088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,324,688 - 63,381,835 (-)Ensembl
RefSeq Acc Id: ENST00000422263   ⟹   ENSP00000403028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,324,707 - 63,381,846 (-)Ensembl
RefSeq Acc Id: ENST00000558287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,340,022 - 63,342,074 (-)Ensembl
RefSeq Acc Id: ENST00000560293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,375,460 - 63,379,073 (-)Ensembl
RefSeq Acc Id: ENST00000560666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1563,325,980 - 63,331,813 (-)Ensembl
RefSeq Acc Id: NM_001218   ⟹   NP_001209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,321,378 - 63,381,846 (-)NCBI
GRCh371563,615,730 - 63,674,326 (-)NCBI
Build 361561,402,783 - 61,461,128 (-)NCBI Archive
HuRef1540,438,444 - 40,496,766 (-)ENTREZGENE
CHM1_11563,734,781 - 63,793,348 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001293642   ⟹   NP_001280571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,321,378 - 63,381,846 (-)NCBI
CHM1_11563,734,781 - 63,793,348 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206925   ⟹   NP_996808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,321,378 - 63,381,846 (-)NCBI
GRCh371563,615,730 - 63,674,326 (-)NCBI
Build 361561,402,783 - 61,461,128 (-)NCBI Archive
HuRef1540,438,444 - 40,496,766 (-)ENTREZGENE
CHM1_11563,734,781 - 63,793,348 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135511
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,321,378 - 63,381,846 (-)NCBI
CHM1_11563,732,628 - 63,793,404 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_996808   ⟸   NM_206925
- Peptide Label: isoform 2 precursor
- UniProtKB: O43570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001209   ⟸   NM_001218
- Peptide Label: isoform 1 precursor
- UniProtKB: O43570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280571   ⟸   NM_001293642
- Peptide Label: isoform 3 precursor
- UniProtKB: B3KUB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000178638   ⟸   ENST00000178638
RefSeq Acc Id: ENSP00000403028   ⟸   ENST00000422263
RefSeq Acc Id: ENSP00000343088   ⟸   ENST00000344366
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:6792158
Promoter ID:HG_KWN:21625
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_206925,   OTTHUMT00000256370,   UC002AME.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361561,460,791 - 61,461,291 (-)MPROMDB
RGD ID:6851174
Promoter ID:EP73384
Type:initiation region
Name:HS_CA12
Description:Carbonic anhydrase XII.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361561,461,098 - 61,461,158EPD
RGD ID:7229737
Promoter ID:EPDNEW_H20614
Type:initiation region
Name:CA12_1
Description:carbonic anhydrase 12
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
GRCh381563,381,846 - 63,381,906EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001218.5(CA12):c.427G>A (p.Glu143Lys) single nucleotide variant Hyperchlorhidrosis, isolated [RCV000006931] Chr15:63345479 [GRCh38]
Chr15:63637678 [GRCh37]
Chr15:15q22.2
pathogenic
NM_001218.4(CA12):c.106+2653C>A single nucleotide variant Lung cancer [RCV000099614] Chr15:63373005 [GRCh38]
Chr15:63665204 [GRCh37]
Chr15:15q22.2
uncertain significance
NM_001218.5(CA12):c.355C>T (p.His119Tyr) single nucleotide variant Hyperchlorhidrosis, isolated [RCV001331828] Chr15:63345551 [GRCh38]
Chr15:63637750 [GRCh37]
Chr15:15q22.2
uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
Single allele deletion Nemaline myopathy 6 [RCV000677940] Chr15:63414894..66439797 [GRCh37]
Chr15:15q22.2-22.31
likely pathogenic
NM_001218.5(CA12):c.363C>A (p.His121Gln) single nucleotide variant Hyperchlorhidrosis, isolated [RCV000235472] Chr15:63345543 [GRCh38]
Chr15:63637742 [GRCh37]
Chr15:15q22.2
pathogenic
NM_001218.5(CA12):c.908-1G>A single nucleotide variant Hyperchlorhidrosis, isolated [RCV000236291] Chr15:63327234 [GRCh38]
Chr15:63619433 [GRCh37]
Chr15:15q22.2
pathogenic|conflicting interpretations of pathogenicity
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs) insertion Hyperchlorhidrosis, isolated [RCV000236787] Chr15:63338833..63338834 [GRCh38]
Chr15:63631032..63631033 [GRCh37]
Chr15:15q22.2
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_001218.5(CA12):c.954_955TG[1] (p.Val319fs) microsatellite Hyperchlorhidrosis, isolated [RCV000680444] Chr15:63327184..63327185 [GRCh38]
Chr15:63619383..63619384 [GRCh37]
Chr15:15q22.2
pathogenic|likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001218.5(CA12):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV000960800] Chr15:63340732 [GRCh38]
Chr15:63632931 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.408C>T (p.Ser136=) single nucleotide variant not provided [RCV000880891] Chr15:63345498 [GRCh38]
Chr15:63637697 [GRCh37]
Chr15:15q22.2
benign
NM_001218.5(CA12):c.765A>G (p.Thr255=) single nucleotide variant not provided [RCV000928682] Chr15:63338928 [GRCh38]
Chr15:63631127 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.204C>T (p.Asp68=) single nucleotide variant not provided [RCV000903797] Chr15:63346612 [GRCh38]
Chr15:63638811 [GRCh37]
Chr15:15q22.2
benign
NM_001218.5(CA12):c.249C>G (p.Ala83=) single nucleotide variant not provided [RCV000925091] Chr15:63346567 [GRCh38]
Chr15:63638766 [GRCh37]
Chr15:15q22.2
benign
NM_001218.5(CA12):c.1061C>T (p.Ala354Val) single nucleotide variant not provided [RCV000976623] Chr15:63326289 [GRCh38]
Chr15:63618488 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.315C>T (p.His105=) single nucleotide variant not provided [RCV000887466] Chr15:63345591 [GRCh38]
Chr15:63637790 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.228C>T (p.Phe76=) single nucleotide variant Hyperchlorhidrosis, isolated [RCV001007601]|not provided [RCV000881554] Chr15:63346588 [GRCh38]
Chr15:63638787 [GRCh37]
Chr15:15q22.2
benign
NM_001218.5(CA12):c.73G>A (p.Ala25Thr) single nucleotide variant not provided [RCV000891585] Chr15:63381648 [GRCh38]
Chr15:63673847 [GRCh37]
Chr15:15q22.2
benign
NM_001218.5(CA12):c.77C>G (p.Pro26Arg) single nucleotide variant not provided [RCV000897103] Chr15:63381644 [GRCh38]
Chr15:63673843 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.21C>T (p.His7=) single nucleotide variant not provided [RCV000943247] Chr15:63381700 [GRCh38]
Chr15:63673899 [GRCh37]
Chr15:15q22.2
likely benign
NM_001218.5(CA12):c.501C>T (p.Leu167=) single nucleotide variant not provided [RCV000955015] Chr15:63342026 [GRCh38]
Chr15:63634225 [GRCh37]
Chr15:15q22.2
likely benign
NC_000015.10:g.(?_63042820)_(63869153_?)dup duplication Hypertrophic cardiomyopathy [RCV001033641] Chr15:63335019..64161352 [GRCh37]
Chr15:15q22.2-22.31
uncertain significance
GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3 copy number gain not provided [RCV001006703] Chr15:63555363..63800908 [GRCh37]
Chr15:15q22.2-22.31
uncertain significance
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) insertion Hyperchlorhidrosis, isolated [RCV001250667] Chr15:63338829..63338830 [GRCh38]
Chr15:63631028..63631029 [GRCh37]
Chr15:15q22.2
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NC_000015.9:g.(?_63335019)_(64161352_?)dup duplication Hypertrophic cardiomyopathy [RCV001304134] Chr15:63335019..64161352 [GRCh37]
Chr15:15q22.2-22.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1371 AgrOrtholog
COSMIC CA12 COSMIC
Ensembl Genes ENSG00000074410 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000178638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403028 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000178638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000344366 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422263 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000074410 GTEx
HGNC ID HGNC:1371 ENTREZGENE
Human Proteome Map CA12 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_CA12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:771 UniProtKB/Swiss-Prot
NCBI Gene 771 ENTREZGENE
OMIM 143860 OMIM
  603263 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18952:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25987 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 B3KUB4 ENTREZGENE, UniProtKB/TrEMBL
  CAH12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NXM9_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RE24 UniProtKB/Swiss-Prot
  Q53YE5 UniProtKB/Swiss-Prot
  Q9BWG2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA12  carbonic anhydrase 12    carbonic anhydrase XII  Symbol and/or name change 5135510 APPROVED
2011-08-16 CA12  carbonic anhydrase XII  CA12  carbonic anhydrase XII  Symbol and/or name change 5135510 APPROVED