CA9 (carbonic anhydrase 9) - Rat Genome Database

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Gene: CA9 (carbonic anhydrase 9) Homo sapiens
Analyze
Symbol: CA9
Name: carbonic anhydrase 9
RGD ID: 1315034
HGNC Page HGNC
Description: Predicted to have carbonate dehydratase activity. Predicted to be involved in one-carbon metabolic process. Localizes to plasma membrane. Implicated in hepatitis B and renal cell carcinoma. Biomarker of breast carcinoma; endometrial hyperplasia; renal cell carcinoma; transitional cell carcinoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-IX; CAIX; carbonate dehydratase IX; carbonic anhydrase IX; carbonic dehydratase; membrane antigen MN; MN; P54/58N; pMW1; RCC-associated antigen G250; RCC-associated protein G250; renal cell carcinoma-associated antigen G250
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 Ensembl935,673,918 - 35,681,159 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,673,809 - 35,681,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,673,925 - 35,681,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,663,915 - 35,671,152 (+)NCBINCBI36hg18NCBI36
Build 34935,663,914 - 35,671,152NCBI
Celera935,607,463 - 35,614,702 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,629,523 - 35,636,764 (+)NCBIHuRef
CHM1_1935,673,743 - 35,680,984 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-methylumbelliferyl beta-D-galactoside  (EXP)
acetamide  (ISO)
acetazolamide  (EXP)
acrylamide  (EXP)
ampicillin  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
betulin  (EXP)
betulinic acid  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A5  (EXP)
bortezomib  (EXP)
butanal  (EXP)
butyric acid  (EXP)
calcitriol  (EXP)
captan  (ISO)
carbonates  (EXP)
chloric acid  (EXP)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
crocidolite asbestos  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
Deguelin  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
ethanol  (EXP)
folpet  (ISO)
Genipin  (EXP)
heptanal  (EXP)
hexanal  (EXP)
hydroquinone  (EXP)
iron(III) citrate  (EXP)
L-ascorbic acid  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
LY294002  (EXP)
molybdate  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nitric acid  (EXP)
Nonidet P-40  (EXP)
O-methyleugenol  (EXP)
octanal  (EXP)
oryzalin  (EXP)
oxaliplatin  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
perchlorate  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
rac-lactic acid  (EXP)
serpentine asbestos  (EXP)
silibinin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sulfamic acid  (EXP)
sulfates  (EXP)
sulindac  (EXP)
tributylstannane  (ISO)
Triptolide  (EXP)
tungstate  (EXP)
Tungsten carbide  (EXP)
urethane  (EXP)
vorinostat  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1312272   PMID:8084592   PMID:8486430   PMID:8661007   PMID:9024293   PMID:9524195   PMID:9770531   PMID:9787087   PMID:10709109   PMID:11083462   PMID:11303978   PMID:11676494  
PMID:11680594   PMID:11705854   PMID:12137853   PMID:12154057   PMID:12477932   PMID:12560438   PMID:12576453   PMID:12615703   PMID:12676895   PMID:12854129   PMID:12865916   PMID:14567991  
PMID:14578124   PMID:14654550   PMID:15184875   PMID:15199132   PMID:15240538   PMID:15340161   PMID:15489334   PMID:15500003   PMID:15556624   PMID:15585626   PMID:15671533   PMID:15809767  
PMID:15833446   PMID:15837325   PMID:15847702   PMID:15849821   PMID:15856466   PMID:15935515   PMID:16168127   PMID:16243791   PMID:16288478   PMID:16416108   PMID:16428489   PMID:16533775  
PMID:16944313   PMID:16954440   PMID:16964400   PMID:17200340   PMID:17220880   PMID:17255364   PMID:17367605   PMID:17390110   PMID:17452775   PMID:17536770   PMID:17652430   PMID:17674038  
PMID:17706406   PMID:17852557   PMID:17855694   PMID:17906661   PMID:18026188   PMID:18060036   PMID:18173856   PMID:18290322   PMID:18336315   PMID:18336316   PMID:18440050   PMID:18482982  
PMID:18676750   PMID:18695901   PMID:18703501   PMID:18728663   PMID:18841153   PMID:18941400   PMID:18976937   PMID:19008051   PMID:19017360   PMID:19022520   PMID:19074859   PMID:19165203  
PMID:19204726   PMID:19291313   PMID:19347577   PMID:19367501   PMID:19458084   PMID:19469910   PMID:19473055   PMID:19523858   PMID:19539328   PMID:19540352   PMID:19564335   PMID:19619339  
PMID:19805286   PMID:19808899   PMID:19861127   PMID:19913121   PMID:19950233   PMID:20038959   PMID:20127031   PMID:20170095   PMID:20224781   PMID:20358226   PMID:20398423   PMID:20423227  
PMID:20461082   PMID:20514415   PMID:20521252   PMID:20526721   PMID:20628086   PMID:20819778   PMID:20822935   PMID:20840814   PMID:20875751   PMID:20964835   PMID:20978319   PMID:21040473  
PMID:21088149   PMID:21090098   PMID:21209841   PMID:21223596   PMID:21249485   PMID:21281785   PMID:21302028   PMID:21306648   PMID:21363891   PMID:21442770   PMID:21454639   PMID:21519917  
PMID:21547579   PMID:21664839   PMID:21691815   PMID:21694464   PMID:21745383   PMID:21761968   PMID:21870331   PMID:21873635   PMID:21910893   PMID:21959110   PMID:21966417   PMID:22037869  
PMID:22087255   PMID:22133596   PMID:22147747   PMID:22170054   PMID:22175902   PMID:22199327   PMID:22289741   PMID:22366443   PMID:22367930   PMID:22430125   PMID:22436629   PMID:22465027  
PMID:22484976   PMID:22486898   PMID:22699808   PMID:22843905   PMID:22918393   PMID:22939629   PMID:22976806   PMID:23074198   PMID:23098453   PMID:23141780   PMID:23181366   PMID:23208505  
PMID:23226406   PMID:23226559   PMID:23263636   PMID:23291973   PMID:23299542   PMID:23372804   PMID:23391777   PMID:23503645   PMID:23512428   PMID:23656776   PMID:23802595   PMID:23860929  
PMID:23869833   PMID:23910904   PMID:23957700   PMID:23991099   PMID:24008660   PMID:24068505   PMID:24111817   PMID:24146381   PMID:24146382   PMID:24146383   PMID:24217923   PMID:24349364  
PMID:24436269   PMID:24471939   PMID:24518567   PMID:24695043   PMID:24737069   PMID:24745019   PMID:24821582   PMID:24878360   PMID:24886661   PMID:24893880   PMID:24926090   PMID:25031713  
PMID:25117006   PMID:25130478   PMID:25230982   PMID:25374230   PMID:25377659   PMID:25422154   PMID:25426861   PMID:25431204   PMID:25434612   PMID:25577552   PMID:25603870   PMID:25738958  
PMID:25755787   PMID:25793203   PMID:25862852   PMID:25890268   PMID:25963717   PMID:26026587   PMID:26130414   PMID:26138037   PMID:26164067   PMID:26224207   PMID:26249175   PMID:26252502  
PMID:26259239   PMID:26276155   PMID:26337752   PMID:26439863   PMID:26510737   PMID:26522624   PMID:26526582   PMID:26553365   PMID:26648507   PMID:26648580   PMID:26794023   PMID:26871637  
PMID:26993100   PMID:27102843   PMID:27153561   PMID:27184798   PMID:27207653   PMID:27373313   PMID:27494883   PMID:27630286   PMID:27688658   PMID:27721473   PMID:27775441   PMID:27901496  
PMID:28028936   PMID:28055960   PMID:28075522   PMID:28099149   PMID:28319085   PMID:28347233   PMID:28388044   PMID:28554753   PMID:28667334   PMID:28692057   PMID:28830777   PMID:28849188  
PMID:28851650   PMID:28921449   PMID:29235571   PMID:29520426   PMID:29564477   PMID:29666945   PMID:29691298   PMID:29693741   PMID:29725249   PMID:29749469   PMID:29893327   PMID:29949785  
PMID:29952031   PMID:29965974   PMID:30029935   PMID:30058688   PMID:30066203   PMID:30206370   PMID:30214007   PMID:30242913   PMID:30322727   PMID:30383070   PMID:30452451   PMID:30565710  
PMID:30636023   PMID:30638861   PMID:30654595   PMID:30755643   PMID:31041828   PMID:31072911   PMID:31078621   PMID:31127991   PMID:31155437   PMID:31276594   PMID:31318683   PMID:31442913  
PMID:31588921   PMID:31589317   PMID:31625068   PMID:31636386   PMID:31723238   PMID:31790614   PMID:31795962   PMID:31819195   PMID:31905844   PMID:32066909   PMID:32244610   PMID:32264924  
PMID:32296183   PMID:32299152   PMID:32438691   PMID:32443462   PMID:32493992   PMID:32560271   PMID:32722392   PMID:32784815   PMID:32788634   PMID:32823915   PMID:32824856   PMID:32879359  
PMID:32998233   PMID:33159147   PMID:33198416   PMID:33201250   PMID:33296398  


Genomics

Comparative Map Data
CA9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,673,918 - 35,681,159 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,673,809 - 35,681,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,673,925 - 35,681,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,663,915 - 35,671,152 (+)NCBINCBI36hg18NCBI36
Build 34935,663,914 - 35,671,152NCBI
Celera935,607,463 - 35,614,702 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,629,523 - 35,636,764 (+)NCBIHuRef
CHM1_1935,673,743 - 35,680,984 (+)NCBICHM1_1
Car9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,507,026 - 43,513,729 (+)NCBIGRCm39mm39
GRCm39 Ensembl443,506,966 - 43,513,729 (+)Ensembl
GRCm38443,507,026 - 43,513,729 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,506,966 - 43,513,729 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,519,898 - 43,526,597 (+)NCBIGRCm37mm9NCBIm37
MGSCv36443,528,107 - 43,534,829 (+)NCBImm8
Celera443,540,895 - 43,547,584 (+)NCBICelera
Cytogenetic Map4A5NCBI
Ca9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2557,763,234 - 57,769,838 (+)NCBI
Rnor_6.0 Ensembl559,008,933 - 59,015,528 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0559,008,277 - 59,015,535 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0563,533,527 - 63,540,129 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,986,413 - 59,993,015 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,986,589 - 59,992,484 (+)NCBI
Celera556,343,808 - 56,350,416 (+)NCBICelera
Cytogenetic Map5q22NCBI
Ca9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472619,245 - 625,051 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472619,084 - 625,570 (-)NCBIChiLan1.0ChiLan1.0
CA9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1936,328,205 - 36,335,474 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,328,303 - 36,335,340 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0935,525,877 - 35,533,159 (+)NCBIMhudiblu_PPA_v0panPan3
CA9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,205,619 - 52,211,281 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,205,668 - 52,211,267 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,773,252 - 50,778,851 (+)NCBI
ROS_Cfam_1.01153,270,515 - 53,276,220 (+)NCBI
UMICH_Zoey_3.11151,815,201 - 51,820,803 (+)NCBI
UNSW_CanFamBas_1.01151,798,686 - 51,804,281 (+)NCBI
UU_Cfam_GSD_1.01152,500,820 - 52,506,421 (+)NCBI
Ca9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,124,669 - 167,131,057 (+)NCBI
SpeTri2.0NW_0049365243,672,393 - 3,678,630 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,388,690 - 236,400,822 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,393,727 - 236,400,994 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,118,816 - 264,126,024 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CA9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,921,530 - 44,929,504 (-)NCBI
ChlSab1.1 Ensembl1244,921,665 - 44,928,831 (-)Ensembl
Ca9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248685,110,602 - 5,131,167 (-)NCBI

Position Markers
RH66792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,680,801 - 35,681,054UniSTSGRCh37
Build 36935,670,801 - 35,671,054RGDNCBI36
Celera935,614,347 - 35,614,600RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,636,409 - 35,636,662UniSTS
GeneMap99-GB4 RH Map9158.81UniSTS
STS-X66839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,680,747 - 35,681,040UniSTSGRCh37
Build 36935,670,747 - 35,671,040RGDNCBI36
Celera935,614,293 - 35,614,586RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,636,355 - 35,636,648UniSTS
GeneMap99-GB4 RH Map9152.85UniSTS
NCBI RH Map9460.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:382
Count of miRNA genes:267
Interacting mature miRNAs:288
Transcripts:ENST00000378357, ENST00000485665, ENST00000493245
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 adipose tissue appendage entire extraembryonic component
High 22 4 4 4 2 1 1
Medium 435 188 39 32 64 33 614 50 503 118 510 109 3 127 283
Low 1857 1464 764 313 429 300 1827 1022 1045 117 796 334 19 395 1248
Below cutoff 102 927 810 243 833 109 1682 1011 2053 144 116 1008 136 591 1135 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI023541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL554705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU570447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC729665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z54349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378357   ⟹   ENSP00000367608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,673,928 - 35,681,159 (+)Ensembl
RefSeq Acc Id: ENST00000485665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,680,701 - 35,681,159 (+)Ensembl
RefSeq Acc Id: ENST00000493245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,676,163 - 35,681,138 (+)Ensembl
RefSeq Acc Id: ENST00000617161   ⟹   ENSP00000482050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,673,918 - 35,681,155 (+)Ensembl
RefSeq Acc Id: NM_001216   ⟹   NP_001207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,673,928 - 35,681,159 (+)NCBI
GRCh37935,673,915 - 35,681,156 (+)ENTREZGENE
Build 36935,663,915 - 35,671,152 (+)NCBI Archive
HuRef935,629,523 - 35,636,764 (+)ENTREZGENE
CHM1_1935,673,743 - 35,680,984 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746374
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,673,809 - 35,681,159 (+)NCBI
Sequence:
RefSeq Acc Id: XR_428428
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,673,861 - 35,681,159 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001207   ⟸   NM_001216
- Peptide Label: precursor
- UniProtKB: Q16790 (UniProtKB/Swiss-Prot),   A0A0S2Z3D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367608   ⟸   ENST00000378357
RefSeq Acc Id: ENSP00000482050   ⟸   ENST00000617161
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:6807427
Promoter ID:HG_KWN:63092
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000055479,   UC003ZXN.1,   UC003ZXP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,663,676 - 35,664,176 (+)MPROMDB
RGD ID:6807368
Promoter ID:HG_KWN:63093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000052333,   OTTHUMT00000055480
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,665,661 - 35,666,161 (+)MPROMDB
RGD ID:6807357
Promoter ID:HG_KWN:63094
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000055481
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,669,876 - 35,671,177 (+)MPROMDB
RGD ID:7215021
Promoter ID:EPDNEW_H13256
Type:initiation region
Name:CA9_1
Description:carbonic anhydrase 9
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
GRCh38935,673,928 - 35,673,988EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001216.2(CA9):c.248T>C (p.Leu83Pro) single nucleotide variant Malignant melanoma [RCV000068654] Chr9:35674207 [GRCh38]
Chr9:35674204 [GRCh37]
Chr9:35664204 [NCBI36]
Chr9:9p13.3
not provided
NM_001216.2(CA9):c.252T>C (p.Pro84=) single nucleotide variant Malignant melanoma [RCV000061935] Chr9:35674211 [GRCh38]
Chr9:35674208 [GRCh37]
Chr9:35664208 [NCBI36]
Chr9:9p13.3
not provided
NM_003289.3(TPM2):c.261C>T (p.Ser87=) single nucleotide variant Malignant melanoma [RCV000068655] Chr9:35685760 [GRCh38]
Chr9:35685757 [GRCh37]
Chr9:35675757 [NCBI36]
Chr9:9p13.3
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
NM_001216.3(CA9):c.342T>C (p.Pro114=) single nucleotide variant not provided [RCV000915811] Chr9:35674301 [GRCh38]
Chr9:35674298 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1383 AgrOrtholog
COSMIC CA9 COSMIC
Ensembl Genes ENSG00000107159 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367608 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482050 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617161 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107159 GTEx
HGNC ID HGNC:1383 ENTREZGENE
Human Proteome Map CA9 Human Proteome Map
InterPro CA9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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:768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 768 ENTREZGENE
OMIM 603179 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18952:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25998 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 A0A087WYS4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z341_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3D0 ENTREZGENE, UniProtKB/TrEMBL
  CAH9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5T4R1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA9  carbonic anhydrase 9    carbonic anhydrase IX  Symbol and/or name change 5135510 APPROVED