CA6 (carbonic anhydrase 6) - Rat Genome Database

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Gene: CA6 (carbonic anhydrase 6) Homo sapiens
Analyze
Symbol: CA6
Name: carbonic anhydrase 6
RGD ID: 1323700
HGNC Page HGNC
Description: Predicted to have carbonate dehydratase activity. Involved in detection of chemical stimulus involved in sensory perception of bitter taste. Localizes to extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-VI; carbonate dehydratase VI; carbonic anhydrase VI; carbonic anhydrase VI nirs variant 2; GUSTIN; MGC21256; salivary carbonic anhydrase; secreted carbonic anhydrase
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 Ensembl18,945,867 - 8,975,092 (+)EnsemblGRCh38hg38GRCh38
GRCh3818,945,868 - 8,975,092 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,005,927 - 9,035,151 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,928,509 - 8,957,738 (+)NCBINCBI36hg18NCBI36
Build 3418,940,207 - 8,969,412NCBI
Celera18,114,641 - 8,143,865 (+)NCBI
Cytogenetic Map1p36.23NCBI
HuRef18,155,174 - 8,184,890 (+)NCBIHuRef
CHM1_118,995,837 - 9,025,073 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1899030   PMID:2113069   PMID:2433278   PMID:2505973   PMID:8429198   PMID:9439449   PMID:9691177   PMID:9784398   PMID:10207193   PMID:10415846   PMID:10523402   PMID:10705347  
PMID:11303978   PMID:11304804   PMID:11553764   PMID:11875253   PMID:12477932   PMID:15342556   PMID:16502470   PMID:16710414   PMID:17499996   PMID:19199708   PMID:19721466   PMID:20379614  
PMID:20631203   PMID:21631296   PMID:21712049   PMID:21873635   PMID:22198626   PMID:22366092   PMID:23652931   PMID:24040192   PMID:24248522   PMID:24534176   PMID:24722188   PMID:25416956  
PMID:25447475   PMID:26125798   PMID:26212680   PMID:26377569   PMID:26544073   PMID:27100223   PMID:28455260   PMID:28514442   PMID:28858874   PMID:29504954   PMID:30679524   PMID:32013665  
PMID:32033224   PMID:32319846   PMID:32918121  


Genomics

Comparative Map Data
CA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl18,945,867 - 8,975,092 (+)EnsemblGRCh38hg38GRCh38
GRCh3818,945,868 - 8,975,092 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,005,927 - 9,035,151 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,928,509 - 8,957,738 (+)NCBINCBI36hg18NCBI36
Build 3418,940,207 - 8,969,412NCBI
Celera18,114,641 - 8,143,865 (+)NCBI
Cytogenetic Map1p36.23NCBI
HuRef18,155,174 - 8,184,890 (+)NCBIHuRef
CHM1_118,995,837 - 9,025,073 (+)NCBICHM1_1
Car6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,271,472 - 150,285,592 (-)NCBIGRCm39mm39
GRCm39 Ensembl4150,271,472 - 150,285,789 (-)Ensembl
GRCm384150,187,015 - 150,201,135 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,187,015 - 150,201,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv374149,561,124 - 149,575,244 (-)NCBIGRCm37mm9NCBIm37
MGSCv364149,030,815 - 149,042,270 (-)NCBImm8
Celera4152,461,682 - 152,476,184 (-)NCBICelera
Cytogenetic Map4E2NCBI
Ca6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25160,658,104 - 160,676,644 (-)NCBI
Rnor_6.0 Ensembl5167,226,246 - 167,244,786 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05167,226,246 - 167,244,786 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05170,854,181 - 170,872,721 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45167,332,219 - 167,350,880 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15167,342,413 - 167,361,042 (-)NCBI
Celera5158,915,352 - 158,933,838 (-)NCBICelera
Cytogenetic Map5q36NCBI
Ca6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554864,234,235 - 4,247,876 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554864,234,293 - 4,249,026 (-)NCBIChiLan1.0ChiLan1.0
CA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.118,938,158 - 8,966,305 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl18,938,164 - 8,966,300 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v017,703,187 - 7,732,409 (+)NCBIMhudiblu_PPA_v0panPan3
CA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1562,358,521 - 62,379,901 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl562,358,403 - 62,379,897 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha562,375,992 - 62,397,372 (+)NCBI
ROS_Cfam_1.0562,580,266 - 62,606,464 (+)NCBI
UMICH_Zoey_3.1562,583,427 - 62,604,811 (+)NCBI
UNSW_CanFamBas_1.0562,447,719 - 62,469,108 (+)NCBI
UU_Cfam_GSD_1.0562,851,948 - 62,873,335 (+)NCBI
Ca6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505832,675,341 - 32,703,732 (+)NCBI
SpeTri2.0NW_0049366233,169,095 - 3,188,947 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl669,447,439 - 69,468,821 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1669,447,662 - 69,468,819 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2663,673,124 - 63,695,013 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CA6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120122,777,961 - 122,817,689 (-)NCBI
ChlSab1.1 Ensembl20122,777,895 - 122,810,359 (-)Ensembl
Vero_WHO_p1.0NW_02366605426,799,675 - 26,832,454 (-)NCBI
Ca6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248183,179,847 - 3,193,699 (-)NCBI

Position Markers
GDB:636125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,034,980 - 9,035,108UniSTSGRCh37
Build 3618,957,567 - 8,957,695RGDNCBI36
Celera18,143,694 - 8,143,822RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,184,719 - 8,184,847UniSTS
SHGC-74181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,034,804 - 9,034,995UniSTSGRCh37
Build 3618,957,391 - 8,957,582RGDNCBI36
Cytogenetic Map1p36.2UniSTS
TNG Radiation Hybrid Map14364.0UniSTS
GeneMap99-GB4 RH Map132.73UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1148
Count of miRNA genes:668
Interacting mature miRNAs:723
Transcripts:ENST00000377436, ENST00000377442, ENST00000377443, ENST00000476083, ENST00000480186, ENST00000549778
Prediction methods:Microtar, Miranda, Rnahybrid
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 pharyngeal arch
High 3 2
Medium 3 1 2 837 2 1 10 517
Low 12 56 18 18 120 499 6 12 6 35 41 19 22 187 2
Below cutoff 928 1482 815 220 1161 102 1286 815 1896 147 788 836 125 551 853 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB102863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB103090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB103091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP333541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP334640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX282262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB956732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377436   ⟹   ENSP00000366654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,887 - 8,974,444 (+)Ensembl
RefSeq Acc Id: ENST00000377442   ⟹   ENSP00000366661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,887 - 8,974,704 (+)Ensembl
RefSeq Acc Id: ENST00000377443   ⟹   ENSP00000366662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,868 - 8,975,092 (+)Ensembl
RefSeq Acc Id: ENST00000476083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,868 - 8,974,874 (+)Ensembl
RefSeq Acc Id: ENST00000480186   ⟹   ENSP00000435280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,882 - 8,952,651 (+)Ensembl
RefSeq Acc Id: ENST00000549778   ⟹   ENSP00000447108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl18,945,867 - 8,967,745 (+)Ensembl
RefSeq Acc Id: NM_001215   ⟹   NP_001206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,975,092 (+)NCBI
GRCh3719,005,893 - 9,035,151 (+)NCBI
Build 3618,928,509 - 8,957,738 (+)NCBI Archive
HuRef18,155,174 - 8,184,890 (+)NCBI
CHM1_118,995,837 - 9,025,073 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270500   ⟹   NP_001257429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,974,444 (+)NCBI
GRCh3719,005,893 - 9,035,151 (+)NCBI
HuRef18,155,174 - 8,184,890 (+)NCBI
CHM1_118,995,837 - 9,024,422 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270501   ⟹   NP_001257430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,975,092 (+)NCBI
GRCh3719,005,893 - 9,035,151 (+)NCBI
HuRef18,155,174 - 8,184,890 (+)NCBI
CHM1_118,995,837 - 9,025,073 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270502   ⟹   NP_001257431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,975,092 (+)NCBI
GRCh3719,005,893 - 9,035,151 (+)NCBI
HuRef18,155,174 - 8,184,890 (+)NCBI
CHM1_118,995,837 - 9,025,073 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542083   ⟹   XP_011540385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,974,287 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542084   ⟹   XP_011540386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,974,520 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001206   ⟸   NM_001215
- Peptide Label: isoform 1 precursor
- UniProtKB: P23280 (UniProtKB/Swiss-Prot),   B4DUH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257430   ⟸   NM_001270501
- Peptide Label: isoform 3 precursor
- UniProtKB: P23280 (UniProtKB/Swiss-Prot),   B4DUH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257431   ⟸   NM_001270502
- Peptide Label: isoform 4
- UniProtKB: B4DUH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257429   ⟸   NM_001270500
- Peptide Label: isoform 2 precursor
- UniProtKB: P23280 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540386   ⟸   XM_011542084
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011540385   ⟸   XM_011542083
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000435280   ⟸   ENST00000480186
RefSeq Acc Id: ENSP00000366654   ⟸   ENST00000377436
RefSeq Acc Id: ENSP00000366662   ⟸   ENST00000377443
RefSeq Acc Id: ENSP00000366661   ⟸   ENST00000377442
RefSeq Acc Id: ENSP00000447108   ⟸   ENST00000549778
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:6853986
Promoter ID:EPDNEW_H158
Type:multiple initiation site
Name:CA6_1
Description:carbonic anhydrase 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,945,868 - 8,945,928EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
NM_001215.3(CA6):c.777C>T (p.Ile259=) single nucleotide variant Malignant melanoma [RCV000064939] Chr1:8970914 [GRCh38]
Chr1:9030973 [GRCh37]
Chr1:8953560 [NCBI36]
Chr1:1p36.23
not provided
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3 copy number gain See cases [RCV000143200] Chr1:8819278..9634691 [GRCh38]
Chr1:8879337..9694749 [GRCh37]
Chr1:8801924..9617336 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1 copy number loss See cases [RCV000510311] Chr1:8855705..9389530 [GRCh37]
Chr1:1p36.23-36.22
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1 copy number loss not provided [RCV000684545] Chr1:7331314..9427796 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1 copy number loss not provided [RCV000684546] Chr1:7391956..9775929 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.23(chr1:8986476-9043357)x1 copy number loss not provided [RCV000684547] Chr1:8986476..9043357 [GRCh37]
Chr1:1p36.23
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_001215.4(CA6):c.210C>T (p.Gly70=) single nucleotide variant not provided [RCV000966726] Chr1:8949393 [GRCh38]
Chr1:9009452 [GRCh37]
Chr1:1p36.23
benign
GRCh37/hg19 1p36.23(chr1:8850514-9094343)x3 copy number gain not provided [RCV000848258] Chr1:8850514..9094343 [GRCh37]
Chr1:1p36.23
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3 copy number gain not provided [RCV000846820] Chr1:8698108..9266627 [GRCh37]
Chr1:1p36.23-36.22
uncertain significance
GRCh37/hg19 1p36.23(chr1:8850514-9092079)x3 copy number gain not provided [RCV001005064] Chr1:8850514..9092079 [GRCh37]
Chr1:1p36.23
uncertain significance
GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3 copy number gain not provided [RCV001259573] Chr1:8869809..9115610 [GRCh37]
Chr1:1p36.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1380 AgrOrtholog
COSMIC CA6 COSMIC
Ensembl Genes ENSG00000131686 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000366654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366662 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435280 UniProtKB/TrEMBL
  ENSP00000447108 UniProtKB/TrEMBL
Ensembl Transcript ENST00000377436 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377442 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377443 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000480186 UniProtKB/TrEMBL
  ENST00000549778 UniProtKB/TrEMBL
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131686 GTEx
HGNC ID HGNC:1380 ENTREZGENE
Human Proteome Map CA6 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_CA6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:765 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 765 ENTREZGENE
OMIM 114780 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18952:SF110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25995 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 B4DUH8 ENTREZGENE, UniProtKB/TrEMBL
  CAH6_HUMAN UniProtKB/Swiss-Prot
  F8W148_HUMAN UniProtKB/TrEMBL
  P23280 ENTREZGENE
  Q5FBW4_HUMAN UniProtKB/TrEMBL
  Q8N4G4_HUMAN UniProtKB/TrEMBL
UniProt Secondary E7EMQ1 UniProtKB/Swiss-Prot
  Q5FBW3 UniProtKB/Swiss-Prot
  Q5FC00 UniProtKB/Swiss-Prot
  Q96QX8 UniProtKB/Swiss-Prot
  Q9UF03 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA6  carbonic anhydrase 6    carbonic anhydrase VI  Symbol and/or name change 5135510 APPROVED
2011-08-17 CA6  carbonic anhydrase VI  CA6  carbonic anhydrase VI  Symbol and/or name change 5135510 APPROVED