CA8 (carbonic anhydrase 8) - Rat Genome Database

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Gene: CA8 (carbonic anhydrase 8) Homo sapiens
Analyze
Symbol: CA8
Name: carbonic anhydrase 8
RGD ID: 1312313
HGNC Page HGNC
Description: Predicted to have hydro-lyase activity. Predicted to be involved in one-carbon metabolic process. Predicted to localize to cytoplasm. Implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-related protein; CA-RP; CA-VIII; CALS; CAMRQ3; carbonate dehydratase; carbonic anhydrase VIII; carbonic anhydrase-like sequence; carbonic anhydrase-related protein; CARP; MGC120502; MGC99509
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 Ensembl860,185,412 - 60,281,400 (-)EnsemblGRCh38hg38GRCh38
GRCh38860,185,412 - 60,281,400 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37861,097,971 - 61,193,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36861,263,977 - 61,356,508 (-)NCBINCBI36hg18NCBI36
Build 34861,263,976 - 61,356,508NCBI
Celera857,092,480 - 57,182,989 (-)NCBI
Cytogenetic Map8q12.1NCBI
HuRef856,589,359 - 56,681,767 (-)NCBIHuRef
CHM1_1861,150,010 - 61,246,037 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
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  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-methylcholanthrene  (EXP)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
cyclosporin A  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
glafenine  (ISO)
hydralazine  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
quercetin  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7587398   PMID:7821612   PMID:8482548   PMID:8977131   PMID:9659390   PMID:12044474   PMID:12477932   PMID:12536316   PMID:12611586   PMID:12950015   PMID:14702039   PMID:15140539  
PMID:15389893   PMID:15489334   PMID:15942747   PMID:16169070   PMID:16609906   PMID:17207965   PMID:17219437   PMID:19172221   PMID:19360879   PMID:19461874   PMID:20819067   PMID:21348951  
PMID:21812104   PMID:21873635   PMID:21885617   PMID:22258531   PMID:22686558   PMID:22810586   PMID:22952603   PMID:22957024   PMID:23200251   PMID:23251661   PMID:24206642   PMID:24446689  
PMID:24476000   PMID:24794067   PMID:25056061   PMID:25416956   PMID:25814554   PMID:25910212   PMID:26186194   PMID:26711783   PMID:27107012   PMID:28514442   PMID:29407793   PMID:29792187  
PMID:31199789   PMID:31515488   PMID:31693170   PMID:31715371   PMID:31796584   PMID:32296183  


Genomics

Comparative Map Data
CA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl860,185,412 - 60,281,400 (-)EnsemblGRCh38hg38GRCh38
GRCh38860,185,412 - 60,281,400 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37861,097,971 - 61,193,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36861,263,977 - 61,356,508 (-)NCBINCBI36hg18NCBI36
Build 34861,263,976 - 61,356,508NCBI
Celera857,092,480 - 57,182,989 (-)NCBI
Cytogenetic Map8q12.1NCBI
HuRef856,589,359 - 56,681,767 (-)NCBIHuRef
CHM1_1861,150,010 - 61,246,037 (-)NCBICHM1_1
Car8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3948,141,493 - 8,239,226 (-)NCBIGRCm39mm39
GRCm39 Ensembl48,143,362 - 8,239,041 (-)Ensembl
GRCm3848,141,493 - 8,239,041 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl48,143,362 - 8,239,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv3748,068,640 - 8,166,188 (-)NCBIGRCm37mm9NCBIm37
MGSCv3647,613,848 - 7,709,581 (-)NCBImm8
MGSCv3648,068,640 - 8,166,188 (-)NCBImm8
Celera48,024,484 - 8,115,866 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map43.53NCBI
Ca8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2521,302,940 - 21,402,395 (-)NCBI
Rnor_6.0 Ensembl521,249,020 - 21,345,810 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0521,249,018 - 21,345,810 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0526,010,374 - 26,106,856 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4521,951,255 - 22,049,427 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1521,951,256 - 22,049,427 (-)NCBI
Celera520,578,323 - 20,675,389 (-)NCBICelera
Cytogenetic Map5q13NCBI
Ca8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544418,413,958 - 18,512,213 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544418,414,006 - 18,510,800 (+)NCBIChiLan1.0ChiLan1.0
CA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1858,273,696 - 58,367,615 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl858,273,696 - 58,367,615 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0856,606,454 - 56,702,357 (-)NCBIMhudiblu_PPA_v0panPan3
CA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12910,678,122 - 10,763,361 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2910,679,038 - 10,764,193 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2910,989,287 - 11,075,445 (-)NCBI
ROS_Cfam_1.02910,763,585 - 10,849,785 (-)NCBI
UMICH_Zoey_3.12910,765,703 - 10,851,540 (-)NCBI
UNSW_CanFamBas_1.02910,899,217 - 10,985,514 (-)NCBI
UU_Cfam_GSD_1.02911,167,585 - 11,253,944 (-)NCBI
Ca8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530361,800,602 - 61,889,623 (-)NCBI
SpeTri2.0NW_00493649612,895,858 - 12,984,303 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl473,047,847 - 73,141,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1473,047,867 - 73,172,215 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2479,510,120 - 79,573,391 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CA8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1856,111,149 - 56,203,797 (-)NCBI
ChlSab1.1 Ensembl856,131,599 - 56,203,336 (-)Ensembl
Ca8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474431,659,318 - 31,777,409 (+)NCBI

Position Markers
WI-21909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,101,557 - 61,101,835UniSTSGRCh37
Build 36861,264,111 - 61,264,389RGDNCBI36
Celera857,092,614 - 57,092,892RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,589,493 - 56,589,771UniSTS
GeneMap99-GB4 RH Map8325.12UniSTS
Whitehead-RH Map8417.2UniSTS
RH16303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,119,612 - 61,119,731UniSTSGRCh37
Build 36861,282,166 - 61,282,285RGDNCBI36
Celera857,110,656 - 57,110,775RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,607,537 - 56,607,656UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
NCBI RH Map8795.9UniSTS
RH16300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,167,104 - 61,167,237UniSTSGRCh37
Build 36861,329,658 - 61,329,791RGDNCBI36
Celera857,156,414 - 57,156,547RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,654,911 - 56,655,044UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
SGC44649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,143,741 - 61,143,941UniSTSGRCh37
Build 36861,306,295 - 61,306,495RGDNCBI36
Celera857,133,013 - 57,133,213RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,631,551 - 56,631,751UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
Whitehead-RH Map8418.8UniSTS
NCBI RH Map8795.9UniSTS
SHGC-77819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,105,761 - 61,106,070UniSTSGRCh37
Build 36861,268,315 - 61,268,624RGDNCBI36
Celera857,096,806 - 57,097,115RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,593,685 - 56,593,994UniSTS
TNG Radiation Hybrid Map830446.0UniSTS
RH102752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,194,194 - 61,194,345UniSTSGRCh37
Build 36861,356,748 - 61,356,899RGDNCBI36
Celera857,183,229 - 57,183,380RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,682,007 - 56,682,158UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
RH121122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,176,481 - 61,176,765UniSTSGRCh37
Build 36861,339,035 - 61,339,319RGDNCBI36
Celera857,165,790 - 57,166,074RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,664,288 - 56,664,572UniSTS
TNG Radiation Hybrid Map830409.0UniSTS
RH122992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,122,942 - 61,123,214UniSTSGRCh37
Build 36861,285,496 - 61,285,768RGDNCBI36
Celera857,113,986 - 57,114,258RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,610,867 - 56,611,139UniSTS
TNG Radiation Hybrid Map830449.0UniSTS
WI-17948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,157,672 - 61,157,802UniSTSGRCh37
Build 36861,320,226 - 61,320,356RGDNCBI36
Celera857,146,945 - 57,147,075RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,645,482 - 56,645,612UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
Whitehead-RH Map8419.6UniSTS
SHGC-44649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,143,783 - 61,143,886UniSTSGRCh37
Build 36861,306,337 - 61,306,440RGDNCBI36
Celera857,133,055 - 57,133,158RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,631,593 - 56,631,696UniSTS
TNG Radiation Hybrid Map830436.0UniSTS
SHGC-34991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,167,188 - 61,167,337UniSTSGRCh37
Build 36861,329,742 - 61,329,891RGDNCBI36
Celera857,156,498 - 57,156,647RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,654,995 - 56,655,144UniSTS
TNG Radiation Hybrid Map830412.0UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
Whitehead-RH Map8418.8UniSTS
NCBI RH Map8795.9UniSTS
GeneMap99-G3 RH Map82530.0UniSTS
SHGC-32354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,101,551 - 61,101,675UniSTSGRCh37
Build 36861,264,105 - 61,264,229RGDNCBI36
Celera857,092,608 - 57,092,732RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,589,487 - 56,589,611UniSTS
TNG Radiation Hybrid Map830443.0UniSTS
Stanford-G3 RH Map82437.0UniSTS
Whitehead-RH Map8415.6UniSTS
NCBI RH Map8794.2UniSTS
GeneMap99-G3 RH Map82527.0UniSTS
STS-H58922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,172,862 - 61,172,986UniSTSGRCh37
Build 36861,335,416 - 61,335,540RGDNCBI36
Celera857,162,172 - 57,162,296RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,660,669 - 56,660,793UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
RH70118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,173,201 - 61,173,419UniSTSGRCh37
Build 36861,335,755 - 61,335,973RGDNCBI36
Celera857,162,511 - 57,162,729RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,661,008 - 56,661,226UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
RH70985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,101,608 - 61,101,831UniSTSGRCh37
Build 36861,264,162 - 61,264,385RGDNCBI36
Celera857,092,665 - 57,092,888RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,589,544 - 56,589,767UniSTS
GeneMap99-GB4 RH Map8323.87UniSTS
SGC34477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37861,173,176 - 61,173,276UniSTSGRCh37
Build 36861,335,730 - 61,335,830RGDNCBI36
Celera857,162,486 - 57,162,586RGD
Cytogenetic Map8q12.1UniSTS
HuRef856,660,983 - 56,661,083UniSTS
GeneMap99-GB4 RH Map8327.65UniSTS
Whitehead-RH Map8418.8UniSTS
NCBI RH Map8795.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1145
Count of miRNA genes:737
Interacting mature miRNAs:854
Transcripts:ENST00000317995, ENST00000524872, ENST00000528666, ENST00000529918
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
Medium 39 2 194 9 53 9 54 4 716 30 360 71 11 1
Low 2307 1664 727 184 672 38 3522 2095 2907 252 770 1045 150 1185 2287 1
Below cutoff 49 1287 654 291 820 279 757 66 58 90 263 428 15 8 500

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY075022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM462961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU182748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY307263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317995   ⟹   ENSP00000314407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl860,185,412 - 60,281,400 (-)Ensembl
RefSeq Acc Id: ENST00000524872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl860,208,071 - 60,281,385 (-)Ensembl
RefSeq Acc Id: ENST00000528666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl860,222,649 - 60,232,673 (-)Ensembl
RefSeq Acc Id: ENST00000529918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl860,264,822 - 60,281,324 (-)Ensembl
RefSeq Acc Id: NM_001321837   ⟹   NP_001308766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,206,023 - 60,281,400 (-)NCBI
CHM1_1861,170,644 - 61,246,037 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321838   ⟹   NP_001308767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,206,023 - 60,281,400 (-)NCBI
CHM1_1861,170,644 - 61,246,037 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321839   ⟹   NP_001308768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,185,412 - 60,281,400 (-)NCBI
CHM1_1861,150,010 - 61,246,037 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004056   ⟹   NP_004047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,185,412 - 60,281,400 (-)NCBI
GRCh37861,101,423 - 61,193,954 (-)ENTREZGENE
Build 36861,263,977 - 61,356,508 (-)NCBI Archive
HuRef856,589,359 - 56,681,767 (-)ENTREZGENE
CHM1_1861,150,010 - 61,246,037 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135821
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,185,412 - 60,281,400 (-)NCBI
CHM1_1861,150,010 - 61,246,037 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517587   ⟹   XP_011515889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,263,327 - 60,281,395 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517588   ⟹   XP_011515890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,256,143 - 60,281,395 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013818   ⟹   XP_016869307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38860,187,347 - 60,281,395 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004047   ⟸   NM_004056
- Peptide Label: isoform a
- UniProtKB: P35219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515890   ⟸   XM_011517588
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515889   ⟸   XM_011517587
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001308768   ⟸   NM_001321839
- Peptide Label: isoform c
- UniProtKB: P35219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308766   ⟸   NM_001321837
- Peptide Label: isoform a
- UniProtKB: P35219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308767   ⟸   NM_001321838
- Peptide Label: isoform b
- UniProtKB: P35219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869307   ⟸   XM_017013818
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000314407   ⟸   ENST00000317995
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:7213371
Promoter ID:EPDNEW_H12431
Type:multiple initiation site
Name:CA8_1
Description:carbonic anhydrase 8
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
GRCh38860,281,400 - 60,281,460EPDNEW
RGD ID:6806552
Promoter ID:HG_KWN:61359
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   NB4
Transcripts:NM_004056,   UC003XUA.1,   UC003XUB.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36861,356,476 - 61,357,322 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [RCV000022460] Chr8:60222677 [GRCh38]
Chr8:61135236 [GRCh37]
Chr8:8q12.1
pathogenic
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [RCV000019170] Chr8:60266044 [GRCh38]
Chr8:61178603 [GRCh37]
Chr8:8q12.1
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 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
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 8q12.1-12.3(chr8:56925812-61691859)x1 copy number loss See cases [RCV000054241] Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
NM_004056.4(CA8):c.*35+7804T>C single nucleotide variant Lung cancer [RCV000107559] Chr8:60200946 [GRCh38]
Chr8:61113505 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_004056.6(CA8):c.299C>T (p.Ser100Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000717129]|not provided [RCV000972784]|not specified [RCV000116509] Chr8:60266043 [GRCh38]
Chr8:61178602 [GRCh37]
Chr8:8q12.1
benign
NM_004056.6(CA8):c.327A>G (p.Glu109=) single nucleotide variant History of neurodevelopmental disorder [RCV000715191]|not specified [RCV000116510] Chr8:60266015 [GRCh38]
Chr8:61178574 [GRCh37]
Chr8:8q12.1
benign|likely benign
NM_004056.6(CA8):c.334C>T (p.Leu112=) single nucleotide variant History of neurodevelopmental disorder [RCV000715631]|not specified [RCV000116511] Chr8:60266008 [GRCh38]
Chr8:61178567 [GRCh37]
Chr8:8q12.1
benign|likely benign
NM_004056.6(CA8):c.66A>G (p.Glu22=) single nucleotide variant History of neurodevelopmental disorder [RCV000716189]|not provided [RCV000967089]|not specified [RCV000116512] Chr8:60281082 [GRCh38]
Chr8:61193641 [GRCh37]
Chr8:8q12.1
benign
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
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 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 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2
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 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3
pathogenic
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_004056.6(CA8):c.795C>A (p.Gly265=) single nucleotide variant History of neurodevelopmental disorder [RCV000717472]|not provided [RCV000954943]|not specified [RCV000193022] Chr8:60208863 [GRCh38]
Chr8:61121422 [GRCh37]
Chr8:8q12.1
likely benign|uncertain significance
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3
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
NM_004056.6(CA8):c.449T>C (p.Phe150Ser) single nucleotide variant not specified [RCV000502561] Chr8:60232348 [GRCh38]
Chr8:61144907 [GRCh37]
Chr8:8q12.1
uncertain significance
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_004056.6(CA8):c.475A>T (p.Lys159Ter) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [RCV000625736] Chr8:60232322 [GRCh38]
Chr8:61144881 [GRCh37]
Chr8:8q12.1
likely 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
NM_004056.6(CA8):c.576+5G>A single nucleotide variant History of neurodevelopmental disorder [RCV000716970]|not provided [RCV000967088] Chr8:60226868 [GRCh38]
Chr8:61139427 [GRCh37]
Chr8:8q12.1
benign|likely benign
NM_004056.6(CA8):c.100+1G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [RCV000678676] Chr8:60281047 [GRCh38]
Chr8:61193606 [GRCh37]
Chr8:8q12.1
likely pathogenic
NM_004056.6(CA8):c.309A>G (p.Pro103=) single nucleotide variant History of neurodevelopmental disorder [RCV000715663]|not provided [RCV000956621] Chr8:60266033 [GRCh38]
Chr8:61178592 [GRCh37]
Chr8:8q12.1
benign|likely benign
NM_004056.6(CA8):c.206G>T (p.Arg69Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000719160] Chr8:60279775 [GRCh38]
Chr8:61192334 [GRCh37]
Chr8:8q12.1
uncertain significance
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_004056.6(CA8):c.81G>A (p.Val27=) single nucleotide variant not provided [RCV000919742] Chr8:60281067 [GRCh38]
Chr8:61193626 [GRCh37]
Chr8:8q12.1
likely benign
NM_004056.6(CA8):c.174G>A (p.Glu58=) single nucleotide variant not provided [RCV000924266] Chr8:60279807 [GRCh38]
Chr8:61192366 [GRCh37]
Chr8:8q12.1
likely benign
NM_004056.6(CA8):c.642T>C (p.Asp214=) single nucleotide variant not provided [RCV000916082] Chr8:60222745 [GRCh38]
Chr8:61135304 [GRCh37]
Chr8:8q12.1
likely benign
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
NM_004056.6(CA8):c.440C>T (p.Ser147Phe) single nucleotide variant not provided [RCV000999039] Chr8:60232357 [GRCh38]
Chr8:61144916 [GRCh37]
Chr8:8q12.1
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
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_004056.6(CA8):c.513+6C>T single nucleotide variant not provided [RCV000999038] Chr8:60232278 [GRCh38]
Chr8:61144837 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_004056.6(CA8):c.730dup (p.Gln244fs) duplication Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 [RCV001199037] Chr8:60222656..60222657 [GRCh38]
Chr8:61135215..61135216 [GRCh37]
Chr8:8q12.1
likely pathogenic
NM_004056.6(CA8):c.42C>T (p.Pro14=) single nucleotide variant not provided [RCV000908055] Chr8:60281106 [GRCh38]
Chr8:61193665 [GRCh37]
Chr8:8q12.1
benign
GRCh37/hg19 8q12.1(chr8:60717207-61303622)x3 copy number gain not provided [RCV001258410] Chr8:60717207..61303622 [GRCh37]
Chr8:8q12.1
uncertain significance
GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735) copy number gain duplication 8q12 [RCV001255692] Chr8:60026663..63779735 [GRCh37]
Chr8:8q12.1-12.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1382 AgrOrtholog
COSMIC CA8 COSMIC
Ensembl Genes ENSG00000178538 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000314407 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000317995 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot
GTEx ENSG00000178538 GTEx
HGNC ID HGNC:1382 ENTREZGENE
Human Proteome Map CA8 Human Proteome Map
InterPro CA_dom UniProtKB/Swiss-Prot
  CA_dom_sf UniProtKB/Swiss-Prot
  Carbonic_anhydrase_a-class UniProtKB/Swiss-Prot
  Carbonic_anhydrase_a-class_CS UniProtKB/Swiss-Prot
  CARP_VIII UniProtKB/Swiss-Prot
KEGG Report hsa:767 UniProtKB/Swiss-Prot
NCBI Gene 767 ENTREZGENE
OMIM 114815 OMIM
  613227 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot
Pfam Carb_anhydrase UniProtKB/Swiss-Prot
PharmGKB PA25997 PharmGKB
PROSITE ALPHA_CA_1 UniProtKB/Swiss-Prot
  ALPHA_CA_2 UniProtKB/Swiss-Prot
SMART Carb_anhydrase UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51069 UniProtKB/Swiss-Prot
UniProt CAH8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K0A5 UniProtKB/Swiss-Prot
  B3KQZ7 UniProtKB/Swiss-Prot
  Q32MY2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA8  carbonic anhydrase 8  CA8  carbonic anhydrase VIII  Symbol and/or name change 5135510 APPROVED