ATP2B2

Protein identityUniProt · HPA

UniProt accession

Q01814

Gene

ATP2B2

Ensembl

ENSG00000157087

Chromosome

3

Canonical length

1243 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1243 residues, UniProt reviewed canonical sequence.

>Q01814|ATP2B2
     1  MGDMTNSDFY SKNQRNESSH GGEFGCTMEE LRSLMELRGT EAVVKIKETY GDTEAICRRL
    61  KTSPVEGLPG TAPDLEKRKQ IFGQNFIPPK KPKTFLQLVW EALQDVTLII LEIAAIISLG
   121  LSFYHPPGEG NEGCATAQGG AEDEGEAEAG WIEGAAILLS VICVVLVTAF NDWSKEKQFR
   181  GLQSRIEQEQ KFTVVRAGQV VQIPVAEIVV GDIAQVKYGD LLPADGLFIQ GNDLKIDESS
   241  LTGESDQVRK SVDKDPMLLS GTHVMEGSGR MLVTAVGVNS QTGIIFTLLG AGGEEEEKKD
   301  KKGVKKGDGL QLPAADGAAA SNAADSANAS LVNGKMQDGN VDASQSKAKQ QDGAAAMEMQ
   361  PLKSAEGGDA DDRKKASMHK KEKSVLQGKL TKLAVQIGKA GLVMSAITVI ILVLYFTVDT
   421  FVVNKKPWLP ECTPVYVQYF VKFFIIGVTV LVVAVPEGLP LAVTISLAYS VKKMMKDNNL
   481  VRHLDACETM GNATAICSDK TGTLTTNRMT VVQAYVGDVH YKEIPDPSSI NTKTMELLIN
   541  AIAINSAYTT KILPPEKEGA LPRQVGNKTE CGLLGFVLDL KQDYEPVRSQ MPEEKLYKVY
   601  TFNSVRKSMS TVIKLPDESF RMYSKGASEI VLKKCCKILN GAGEPRVFRP RDRDEMVKKV
   661  IEPMACDGLR TICVAYRDFP SSPEPDWDNE NDILNELTCI CVVGIEDPVR PEVPEAIRKC
   721  QRAGITVRMV TGDNINTARA IAIKCGIIHP GEDFLCLEGK EFNRRIRNEK GEIEQERIDK
   781  IWPKLRVLAR SSPTDKHTLV KGIIDSTHTE QRQVVAVTGD GTNDGPALKK ADVGFAMGIA
   841  GTDVAKEASD IILTDDNFSS IVKAVMWGRN VYDSISKFLQ FQLTVNVVAV IVAFTGACIT
   901  QDSPLKAVQM LWVNLIMDTF ASLALATEPP TETLLLRKPY GRNKPLISRT MMKNILGHAV
   961  YQLALIFTLL FVGEKMFQID SGRNAPLHSP PSEHYTIIFN TFVMMQLFNE INARKIHGER
  1021  NVFDGIFRNP IFCTIVLGTF AIQIVIVQFG GKPFSCSPLQ LDQWMWCIFI GLGELVWGQV
  1081  IATIPTSRLK FLKEAGRLTQ KEEIPEEELN EDVEEIDHAE RELRRGQILW FRGLNRIQTQ
  1141  IRVVKAFRSS LYEGLEKPES RTSIHNFMAH PEFRIEDSQP HIPLIDDTDL EEDAALKQNS
  1201  SPPSSLNKNN SAIDSGINLT TDTSKSATSS SPGSPIHSLE TSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP2B2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

88 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP2B2.

Disease | AllUniProt

Conditions ATP2B2 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 82 (DFNA82) MIM:619804

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 625 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal dominant 82
• ATP2B2-related disorder
• Neurodevelopmental disorder
• Epileptic encephalopathy
• Autosomal dominant nonsyndromic hearing loss

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.15

gnomAD pLI

1

gnomAD missense Z

4.55

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• calcium ion transport
• monoatomic ion transmembrane transport
• neuron differentiation
• regulation of cardiac conduction
• regulation of cytosolic calcium ion concentration
• sensory perception of sound

Molecular functions

• ATP binding
• ATP hydrolysis activity
• calcium ion binding
• calmodulin binding
• metal ion binding
• P-type calcium transporter activity
• PDZ domain binding
• P-type calcium transporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration

Cellular components

• apical plasma membrane
• basolateral plasma membrane
• cytoplasm
• dendritic spine membrane
• extracellular exosome
• GABA-ergic synapse
• glutamatergic synapse
• plasma membrane
• postsynaptic density membrane

Protein domainsUniProt · Pfam · InterPro

• P-type ATPase
• Cation-transporting P-type ATPase, N-terminal
• Cation-transporting P-type ATPase, C-terminal
• P-type ATPase, subfamily IIB
• P-type ATPase, A domain superfamily
• P-type ATPase, phosphorylation site
• Plasma membrane calcium transporting P-type ATPase, C-terminal
• HAD superfamily
• P-type ATPase, transmembrane domain superfamily
• P-type ATPase, cytoplasmic domain N
• HAD-like superfamily
• P-type ATPase, haloacid dehalogenase domain
• P-type ATPase, A domain
• P-type ATPase actuator domain
• Cation transporting ATPase, C-terminus
• Cation transporter/ATPase, N-terminus
• haloacid dehalogenase-like hydrolase
• Plasma membrane calcium transporter ATPase C terminal
• P-type ATPase, cytoplasmic domain N

KeywordsUniProt

• ATP-binding
• Calcium
• Calcium transport
• Calmodulin-binding
• Cell membrane
• Deafness
• Ion transport
• Magnesium
• Membrane
• Metal-binding
• Non-syndromic deafness
• Nucleotide-binding
• Phosphoprotein
• Synapse
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP2B2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PDZD11