| Gene Symbol | ATP8A2 |
|---|---|
| Entrez Gene | 51761 |
| Alt Symbol | ATP, ATPIB, CAMRQ4, IB, ML-1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | ATPase, aminophospholipid transporter, class I, type 8A, member 2 |
| Other Description | ATPase class I type 8A member 2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|P4-ATPase flippase complex alpha subunit ATP8A2|phospholipid-transporting ATPase IB|probable phospholipid-transporting ATPase IB |
| Swissprots | Q9NTL2 Q9NTI2 Q9NPU6 Q9NYM3 Q9H527 |
| Accessions | CAE84542 EAX08372 EAX08373 EAX08374 EAX08375 EAX08376 Q9NTI2 AF236871 AAF40215 AK022096 AK094653 BAC04396 AK126031 BAC86402 AK127263 BAC86905 AK302980 BAH13866 AK310254 AL137256 CAB70658 AL390129 CAB99084 BC144228 BC144229 BC156471 AAI56472 BC172535 AAI72535 BX537836 CAD97848 XM_005266419 XP_005266476 XM_011535103 XP_011533405 XM_011535104 XP_011533406 XM_011535105 XP_011533407 XM_011535106 XP_011533408 XM_011535107 XP_011533409 XM_011535108 XP_011533410 XM_011535109 XP_011533411 XM_011535110 XP_011533412 XM_011535111 XP_011533413 XM_011535112 XP_011533414 XM_011535113 XP_011533415 XM_011535114 XP_011533416 XM_011535115 XP_011533417 NM_016529 NP_057613 |
| Function | Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival. |
| Subcellular Location | Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:20947505}. Endosome {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:20947505}. Note=Localizes to the Golgi and endosomes in photoreceptor cells. Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity). {ECO:0000250}. |
| Tissue Specificity | Strongly expressed in the brain, cerebellum, retina and testis. {ECO:0000269|PubMed:20683487, ECO:0000269|PubMed:22892528}. |