Search for a gene
ATP2B3 - ATPase plasma membrane Ca2+ transporting 3
- Synonym(s) : CFAP39, cilia and flagella associated protein 39, Plasma membrane calcium-transporting ATPase 3, plasma membrane calcium-transporting ATPase 3, PMCA3
- Previous symbols and names : ATPase, Ca++ transporting, plasma membrane 3, CLA2, SCAX1, cerebellar ataxia 2 (X-linked), spinocerebellar ataxia, X-linked 1
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300014
- HGNC: 816
- UniProtKB: Q16720
- Genatlas: ATP2B3
- GenCC: ATP2B3
- Ensembl: ENSG00000067842
- IUPHAR-DB: 845
- Reactome: Q16720
- LOVD: ATP2B3
Diseases list
- Disease-causing germline mutation(s) in X-linked non progressive cerebellar ataxia
ORPHA:314978 
- Disease-causing somatic mutation(s) in NON RARE IN EUROPE: Aldosterone-producing adenoma
ORPHA:85142
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.