CA8 (carbonic anhydrase 8)

2007-07-01  

Identity

HGNC
CA8
LOCATION
8q12.1
LOCUSID
767
ALIAS
CA-RP,CA-VIII,CALS,CAMRQ3,CARP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Nitrogen metabolismKEGGko00910
Nitrogen metabolismKEGGhsa00910

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
194618742009CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.47
218121042011Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.21
193608792009Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing.9
208190672010Carbonic anhydrase related protein VIII and its role in neurodegeneration and cancer.9
172194372007Carbonic anhydrase-related protein VIII promotes colon cancer cell growth.7
297921872018Carbonic anhydrase related protein expression in astrocytomas and oligodendroglial tumors.5
191722212009Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis.4
191722212009Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis.4
247940672014Roles of carbonic anhydrase 8 in neuronal cells and zebrafish.4
267117832016Oncogenic roles of carbonic anhydrase 8 in human osteosarcoma cells.2

Citation

Dessen P

CA8 (carbonic anhydrase 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

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