CA5A (carbonic anhydrase 5A) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CA5A (carbonic anhydrase 5A) Homo sapiens
Analyze
Symbol: CA5A
Name: carbonic anhydrase 5A
RGD ID: 1347153
HGNC Page HGNC
Description: Predicted to have carbonate dehydratase activity. Predicted to be involved in one-carbon metabolic process. Predicted to localize to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CA-VA; CA5; CA5AD; carbonate dehydratase VA; carbonic anhydrase 5A, mitochondrial; carbonic anhydrase V, mitochondrial; carbonic anhydrase VA, mitochondrial; carbonic dehydratase; CAV; CAVA; GS1-21A4.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC005632.2   CA5AP1   LOC100421031  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1687,881,546 - 87,936,580 (-)EnsemblGRCh38hg38GRCh38
GRCh381687,881,549 - 87,936,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371687,915,155 - 87,970,135 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361686,479,126 - 86,527,613 (-)NCBINCBI36hg18NCBI36
Build 341686,479,125 - 86,527,613NCBI
Celera1672,219,173 - 72,267,375 (-)NCBI
Cytogenetic Map16q24.2NCBI
HuRef1673,662,132 - 73,710,650 (-)NCBIHuRef
CHM1_11689,333,043 - 89,381,480 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7490083   PMID:8356065   PMID:9733757   PMID:10082753   PMID:12477932   PMID:17174092   PMID:20877624   PMID:21873635   PMID:22632162   PMID:24530203   PMID:25834911   PMID:26490262  
PMID:26913920   PMID:28514442   PMID:29676528  


Genomics

Comparative Map Data
CA5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1687,881,546 - 87,936,580 (-)EnsemblGRCh38hg38GRCh38
GRCh381687,881,549 - 87,936,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371687,915,155 - 87,970,135 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361686,479,126 - 86,527,613 (-)NCBINCBI36hg18NCBI36
Build 341686,479,125 - 86,527,613NCBI
Celera1672,219,173 - 72,267,375 (-)NCBI
Cytogenetic Map16q24.2NCBI
HuRef1673,662,132 - 73,710,650 (-)NCBIHuRef
CHM1_11689,333,043 - 89,381,480 (-)NCBICHM1_1
Car5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398122,642,874 - 122,671,651 (-)NCBIGRCm39mm39
GRCm39 Ensembl8122,642,865 - 122,671,643 (-)Ensembl
GRCm388121,916,135 - 121,944,912 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8121,916,126 - 121,944,904 (-)EnsemblGRCm38mm10GRCm38
MGSCv378124,440,035 - 124,468,812 (-)NCBIGRCm37mm9NCBIm37
MGSCv368121,987,915 - 122,017,051 (-)NCBImm8
MGSCv368124,802,236 - 124,830,994 (-)NCBImm8
Celera8126,138,230 - 126,172,629 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map870.81NCBI
Ca5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21949,973,092 - 50,002,948 (-)NCBI
Rnor_6.0 Ensembl1954,731,859 - 54,761,670 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01954,731,829 - 54,761,697 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01965,451,126 - 65,480,815 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,158,607 - 52,188,664 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11952,163,493 - 52,193,545 (-)NCBI
Celera1949,218,046 - 49,247,995 (-)NCBICelera
Cytogenetic Map19q12NCBI
Ca5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,139,920 - 2,160,597 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,141,450 - 2,159,955 (-)NCBIChiLan1.0ChiLan1.0
CA5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11687,887,288 - 87,903,159 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01668,564,400 - 68,618,614 (-)NCBIMhudiblu_PPA_v0panPan3
CA5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1565,269,855 - 65,297,593 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl565,269,635 - 65,296,777 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha565,280,118 - 65,307,768 (+)NCBI
ROS_Cfam_1.0565,489,652 - 65,517,389 (+)NCBI
UMICH_Zoey_3.1565,515,185 - 65,542,854 (+)NCBI
UNSW_CanFamBas_1.0565,346,901 - 65,374,559 (+)NCBI
UU_Cfam_GSD_1.0565,753,935 - 65,781,642 (+)NCBI
Ca5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,719,672 - 25,742,042 (+)NCBI
SpeTri2.0NW_0049366411,478,285 - 1,495,490 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CA5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl61,505,566 - 1,538,494 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.161,495,615 - 1,539,390 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CA5A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1573,284,536 - 73,333,629 (-)NCBI
Ca5a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247461,293,619 - 1,323,067 (+)NCBI

Position Markers
RH71359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,921,681 - 87,921,842UniSTSGRCh37
GRCh371621,544,212 - 21,544,373UniSTSGRCh37
Build 361621,451,713 - 21,451,874RGDNCBI36
Celera1672,219,229 - 72,219,390RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1673,662,188 - 73,662,349UniSTS
SHGC-78863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,953,227 - 87,953,323UniSTSGRCh37
GRCh371622,437,109 - 22,437,208UniSTSGRCh37
Build 361622,344,610 - 22,344,709RGDNCBI36
Celera1672,250,540 - 72,250,636UniSTS
Celera1621,216,993 - 21,217,092RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1673,693,705 - 73,693,801UniSTS
HuRef1620,681,297 - 20,681,396UniSTS
TNG Radiation Hybrid Map1640105.0UniSTS
SHGC-144370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,952,275 - 87,952,582UniSTSGRCh37
Build 361686,509,776 - 86,510,083RGDNCBI36
Celera1672,249,588 - 72,249,895RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,692,753 - 73,693,060UniSTS
TNG Radiation Hybrid Map1640087.0UniSTS
RH70394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,958,406 - 87,958,684UniSTSGRCh37
Build 361686,515,907 - 86,516,185RGDNCBI36
Celera1672,255,721 - 72,255,999RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,698,886 - 73,699,164UniSTS
GeneMap99-GB4 RH Map16485.75UniSTS
SHGC-64110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371622,431,126 - 22,431,241UniSTSGRCh37
GRCh371687,947,186 - 87,947,303UniSTSGRCh37
Build 361622,338,627 - 22,338,742RGDNCBI36
Celera1621,211,010 - 21,211,125RGD
Celera1672,244,518 - 72,244,635UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map16p12.2UniSTS
HuRef1620,675,314 - 20,675,429UniSTS
HuRef1673,687,684 - 73,687,800UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:448
Count of miRNA genes:368
Interacting mature miRNAs:385
Transcripts:ENST00000309893, ENST00000566402, ENST00000568801
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
High
Medium 157 157 157 3
Low 23 11 307 271 178 272 78 16 91 53 55 109 2 1 2 1
Below cutoff 1392 2126 1046 134 1172 25 2872 1337 3417 250 1102 1262 118 797 1835 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC127455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ996241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000566402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,888,018 - 87,892,268 (-)Ensembl
RefSeq Acc Id: ENST00000568801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,925,539 - 87,936,529 (-)Ensembl
RefSeq Acc Id: ENST00000648022   ⟹   ENSP00000497934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,888,017 - 87,936,560 (-)Ensembl
RefSeq Acc Id: ENST00000648177   ⟹   ENSP00000497626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,881,549 - 87,936,580 (-)Ensembl
RefSeq Acc Id: ENST00000649158   ⟹   ENSP00000496993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,881,546 - 87,936,580 (-)Ensembl
RefSeq Acc Id: ENST00000649794   ⟹   ENSP00000498065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1687,888,013 - 87,936,529 (-)Ensembl
RefSeq Acc Id: NM_001367225   ⟹   NP_001354154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,881,549 - 87,936,529 (-)NCBI
RefSeq Acc Id: NM_001739   ⟹   NP_001730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,888,013 - 87,936,529 (-)NCBI
GRCh371687,921,625 - 87,970,173 (-)NCBI
Build 361686,479,126 - 86,527,613 (-)NCBI Archive
Celera1672,219,173 - 72,267,375 (-)RGD
HuRef1673,662,132 - 73,710,650 (-)RGD
CHM1_11689,333,043 - 89,381,480 (-)NCBI
Sequence:
RefSeq Acc Id: NR_159798
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,888,013 - 87,936,529 (-)NCBI
RefSeq Acc Id: NR_159799
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,888,013 - 87,936,529 (-)NCBI
RefSeq Acc Id: XM_005256134   ⟹   XP_005256191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,923,409 - 87,936,575 (-)NCBI
GRCh371687,921,625 - 87,970,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523309   ⟹   XP_011521611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,899,977 - 87,936,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023646   ⟹   XP_016879135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,891,463 - 87,936,575 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001730   ⟸   NM_001739
- Peptide Label: isoform 1 precursor
- UniProtKB: P35218 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005256191   ⟸   XM_005256134
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011521611   ⟸   XM_011523309
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016879135   ⟸   XM_017023646
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001354154   ⟸   NM_001367225
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: ENSP00000497626   ⟸   ENST00000648177
RefSeq Acc Id: ENSP00000497934   ⟸   ENST00000648022
RefSeq Acc Id: ENSP00000496993   ⟸   ENST00000649158
RefSeq Acc Id: ENSP00000498065   ⟸   ENST00000649794
Protein Domains
Alpha-carbonic anhydrase

Promoters
RGD ID:7233097
Promoter ID:EPDNEW_H22295
Type:initiation region
Name:CA5A_1
Description:carbonic anhydrase 5A
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
GRCh381687,936,529 - 87,936,589EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000114946] Chr16:87891876 [GRCh38]
Chr16:87925482 [GRCh37]
Chr16:16q24.2
pathogenic
NM_001739.2(CA5A):c.555G>A (p.Lys185=) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000114947]|not provided [RCV000483966] Chr16:87902425 [GRCh38]
Chr16:87936031 [GRCh37]
Chr16:16q24.2
pathogenic|likely pathogenic
NM_001739.1(CA5A):c.619-3421_774+502del (p.Asp207_Gln258del) deletion Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000114948] Chr16:87891310..87895375 [GRCh38]
Chr16:87924903..87928981 [GRCh37]
Chr16:16q24.2
pathogenic
NC_000016.10:g.(?_87904766)_(87904924_?)del deletion Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001032878] Chr16:87938372..87938530 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3 copy number gain See cases [RCV000142588] Chr16:87766820..88391819 [GRCh38]
Chr16:87800426..88458227 [GRCh37]
Chr16:86357927..86985728 [NCBI36]
Chr16:16q24.2
uncertain significance
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_001739.2(CA5A):c.799T>C (p.Phe267Leu) single nucleotide variant not provided [RCV000585378] Chr16:87888248 [GRCh38]
Chr16:87921854 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.340+20C>G single nucleotide variant not specified [RCV000606066] Chr16:87926728 [GRCh38]
Chr16:87960334 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001739.2(CA5A):c.453C>T (p.Pro151=) single nucleotide variant not provided [RCV000676816]|not specified [RCV000427348] Chr16:87904792 [GRCh38]
Chr16:87938398 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.807A>T (p.Ala269=) single nucleotide variant not provided [RCV000676813]|not specified [RCV000438053] Chr16:87888240 [GRCh38]
Chr16:87921846 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.143-9T>A single nucleotide variant not provided [RCV000676819]|not specified [RCV000418226] Chr16:87926954 [GRCh38]
Chr16:87960560 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000959331]|not specified [RCV000429140] Chr16:87936313 [GRCh38]
Chr16:87969919 [GRCh37]
Chr16:16q24.2
benign
NG_033227.1:g.49655G>A single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000681608] Chr16:87891852 [GRCh38]
Chr16:87925458 [GRCh37]
Chr16:16q24.2
pathogenic
NM_001739.2(CA5A):c.645C>T (p.Phe215=) single nucleotide variant not provided [RCV000676815]|not specified [RCV000422290] Chr16:87891928 [GRCh38]
Chr16:87925534 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001079348]|not provided [RCV000676820]|not specified [RCV000433253] Chr16:87936316 [GRCh38]
Chr16:87969922 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000681608]|not provided [RCV000440896] Chr16:87891852 [GRCh38]
Chr16:87925458 [GRCh37]
Chr16:16q24.2
pathogenic|likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3
not provided
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001739.2(CA5A):c.219C>T (p.Asp73=) single nucleotide variant not specified [RCV000600523] Chr16:87926869 [GRCh38]
Chr16:87960475 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001085440]|not provided [RCV000676814] Chr16:87891824 [GRCh38]
Chr16:87925430 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_001739.2(CA5A):c.214A>C (p.Arg72=) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001088268]|not provided [RCV000676818] Chr16:87926874 [GRCh38]
Chr16:87960480 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.267G>A (p.Ala89=) single nucleotide variant not provided [RCV000676817] Chr16:87926821 [GRCh38]
Chr16:87960427 [GRCh37]
Chr16:16q24.2
likely benign
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q24.2(chr16:87766191-87992527)x3 copy number gain not provided [RCV000683857] Chr16:87766191..87992527 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000702520] Chr16:87901974 [GRCh38]
Chr16:87935580 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NC_000016.10:g.(?_87936289)_(87936470_?)del deletion Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000708470] Chr16:87936289..87936470 [GRCh38]
Chr16:87969895..87970076 [GRCh37]
Chr16:16q24.2
pathogenic
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000691071] Chr16:87936357 [GRCh38]
Chr16:87969963 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q24.2(chr16:87669407-88114637)x3 copy number gain not provided [RCV000751806] Chr16:87669407..88114637 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001036669] Chr16:87891897 [GRCh38]
Chr16:87925503 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001070550] Chr16:87926817 [GRCh38]
Chr16:87960423 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV000917751] Chr16:87891912 [GRCh38]
Chr16:87925518 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.687C>T (p.Thr229=) single nucleotide variant not provided [RCV000921485] Chr16:87891886 [GRCh38]
Chr16:87925492 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.657T>C (p.Thr219=) single nucleotide variant not provided [RCV000902117] Chr16:87891916 [GRCh38]
Chr16:87925522 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_001739.2(CA5A):c.624G>A (p.Ala208=) single nucleotide variant not provided [RCV000914084] Chr16:87891949 [GRCh38]
Chr16:87925555 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.720C>A (p.Thr240=) single nucleotide variant not provided [RCV000839212] Chr16:87891853 [GRCh38]
Chr16:87925459 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q24.2(chr16:87513448-87930837)x1 copy number loss not provided [RCV000848541] Chr16:87513448..87930837 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2(chr16:87662098-88059562)x3 copy number gain not provided [RCV000847099] Chr16:87662098..88059562 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_001739.2(CA5A):c.767_774+13del deletion Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001235894] Chr16:87891786..87891806 [GRCh38]
Chr16:87925392..87925412 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.882G>A (p.Ala294=) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000974693] Chr16:87888165 [GRCh38]
Chr16:87921771 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala) single nucleotide variant not provided [RCV000974694] Chr16:87891918 [GRCh38]
Chr16:87925524 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.450C>T (p.Tyr150=) single nucleotide variant not provided [RCV000908532] Chr16:87904795 [GRCh38]
Chr16:87938401 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV000888813] Chr16:87926830 [GRCh38]
Chr16:87960436 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.543C>T (p.Gly181=) single nucleotide variant not provided [RCV000976357] Chr16:87902437 [GRCh38]
Chr16:87936043 [GRCh37]
Chr16:16q24.2
benign
NM_001739.2(CA5A):c.172G>A (p.Val58Met) single nucleotide variant not provided [RCV000981754] Chr16:87926916 [GRCh38]
Chr16:87960522 [GRCh37]
Chr16:16q24.2
benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_001739.2(CA5A):c.80C>G (p.Ser27Trp) single nucleotide variant not provided [RCV000912286] Chr16:87936371 [GRCh38]
Chr16:87969977 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.774+7C>T single nucleotide variant not provided [RCV000934898] Chr16:87891792 [GRCh38]
Chr16:87925398 [GRCh37]
Chr16:16q24.2
likely benign
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV000890830] Chr16:87926844 [GRCh38]
Chr16:87960450 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q24.2(chr16:87765473-87992527)x3 copy number gain not provided [RCV001006839] Chr16:87765473..87992527 [GRCh37]
Chr16:16q24.2
likely benign
NC_000016.10:g.(?_87888109)_(87891974_?)del deletion Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001032853] Chr16:87921715..87925580 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh37/hg19 16q24.2(chr16:87969915-87970056) copy number loss Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001004072] Chr16:87969915..87970056 [GRCh37]
Chr16:16q24.2
pathogenic
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001250192] Chr16:87901950 [GRCh38]
Chr16:87935556 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_001739.2(CA5A):c.110G>A (p.Arg37His) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001042304] Chr16:87936341 [GRCh38]
Chr16:87969947 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.473A>C (p.His158Pro) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001217769] Chr16:87902507 [GRCh38]
Chr16:87936113 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001063478] Chr16:87901935 [GRCh38]
Chr16:87935541 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001063806] Chr16:87891927 [GRCh38]
Chr16:87925533 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2(chr16:87728281-87982996)x1 copy number loss not provided [RCV001258662] Chr16:87728281..87982996 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2(chr16:87762484-88234413)x1 copy number loss not provided [RCV001258660] Chr16:87762484..88234413 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.629C>T (p.Ala210Val) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001337646] Chr16:87891944 [GRCh38]
Chr16:87925550 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.427C>G (p.His143Asp) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001344667] Chr16:87904818 [GRCh38]
Chr16:87938424 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_001739.2(CA5A):c.575C>T (p.Thr192Met) single nucleotide variant Carbonic anhydrase VA deficiency, hyperammonemia due to [RCV001345112] Chr16:87901955 [GRCh38]
Chr16:87935561 [GRCh37]
Chr16:16q24.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1377 AgrOrtholog
COSMIC CA5A COSMIC
Ensembl Genes ENSG00000174990 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000496993 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497626 UniProtKB/TrEMBL
  ENSP00000497934 UniProtKB/TrEMBL
  ENSP00000498065 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000648022 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000648177 UniProtKB/TrEMBL
  ENST00000649158 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000649794 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174990 GTEx
HGNC ID HGNC:1377 ENTREZGENE
Human Proteome Map CA5A 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
KEGG Report hsa:763 UniProtKB/Swiss-Prot
NCBI Gene 763 ENTREZGENE
OMIM 114761 OMIM
  615751 OMIM
PANTHER PTHR18952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carb_anhydrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25992 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 A0A3B3IRX9_HUMAN UniProtKB/TrEMBL
  A0A3B3ITA6_HUMAN UniProtKB/TrEMBL
  A0A3B3ITU9_HUMAN UniProtKB/TrEMBL
  CAH5A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RPF2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CA5A  carbonic anhydrase 5A    carbonic anhydrase VA, mitochondrial  Symbol and/or name change 5135510 APPROVED