CA5A (carbonic anhydrase 5A)

2014-11-01 Affiliation

Identity

HGNC

CA5A

LOCATION

16q24.2

LOCUSID

763

ALIAS

CA5,CA5AD,CAV,CAVA,GS1-21A4.1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174990	ENST00000648022	A0A3B3ITU9
ENSG00000174990	ENST00000648177	A0A3B3ITA6
ENSG00000174990	ENST00000649158	A0A3B3IRX9
ENSG00000174990	ENST00000649794	P35218

Expression (GTEx)

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

Pathway	Source	External ID
Nitrogen metabolism	KEGG	ko00910
Nitrogen metabolism	KEGG	hsa00910
Metabolism	REACTOME	R-HSA-1430728
Reversible hydration of carbon dioxide	REACTOME	R-HSA-1475029

References

Pubmed ID	Year	Title	Citations
24530203	2014	Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
17174092	2007	Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.	6
26913920	2016	Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.	2

Citation

Dessen P

CA5A (carbonic anhydrase 5A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61342/ca5a