CA5A (carbonic anhydrase 5A)

2014-11-01  

Identity

HGNC
CA5A
LOCATION
16q24.2
LOCUSID
763
ALIAS
CA5,CA5AD,CAV,CAVA,GS1-21A4.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 763
MIM: 114761
HGNC: 1377
Ensembl: ENSG00000174990

Variants:

dbSNP: 763
ClinVar: 763
TCGA: ENSG00000174990
COSMIC: CA5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174990ENST00000648022A0A3B3ITU9
ENSG00000174990ENST00000648177A0A3B3ITA6
ENSG00000174990ENST00000649158A0A3B3IRX9
ENSG00000174990ENST00000649794P35218

Expression (GTEx)

0
1
2
3
4
5
6
7
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
MetabolismREACTOMER-HSA-1430728
Reversible hydration of carbon dioxideREACTOMER-HSA-1475029

References

Pubmed IDYearTitleCitations
364648342023Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.0
364648342023Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.0
269139202016Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.13
269139202016Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.13
245302032014Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.39
245302032014Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.39
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
171740922007Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.11
171740922007Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.11

Citation

Dessen P

CA5A (carbonic anhydrase 5A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61342/ca5a-(carbonic-anhydrase-5a)