CA8 (carbonic anhydrase 8)

2007-07-01  

Identity

HGNC
LOCATION
8q12.1
LOCUSID
ALIAS
CA-RP,CA-VIII,CALS,CAMRQ3,CARP
FUSION GENES

Other Information

Locus ID:

NCBI: 767
MIM: 114815
HGNC: 1382
Ensembl: ENSG00000178538

Variants:

dbSNP: 767
ClinVar: 767
TCGA: ENSG00000178538
COSMIC: CA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178538ENST00000317995P35219

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Nitrogen metabolismKEGGko00910
Nitrogen metabolismKEGGhsa00910

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
385713702024Effects of down-regulated carbonic anhydrase 8 on cell survival and glucose metabolism in human colorectal cancer cell lines.0
385713702024Effects of down-regulated carbonic anhydrase 8 on cell survival and glucose metabolism in human colorectal cancer cell lines.0
354889422022Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.0
359010812022Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.0
354889422022Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.0
359010812022Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.0
325830432021Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells.1
325830432021Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells.1
316931702020Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.0
317153712020CA8 promotes RCC proliferation and migration though its expression level is lower in tumor compared to adjacent normal tissue.10
332477722020Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.2
316931702020Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.0
317153712020CA8 promotes RCC proliferation and migration though its expression level is lower in tumor compared to adjacent normal tissue.10
332477722020Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.2
311997892019Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL.5

Citation

Dessen P

CA8 (carbonic anhydrase 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47616/ca8