Details for: ATP2B2

Gene ID: 491

Symbol: ATP2B2

Ensembl ID: ENSG00000157087

Description: ATPase plasma membrane Ca2+ transporting 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 5.05
    Marker Score: 10458
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.46
    Marker Score: 150571
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.63
    Marker Score: 52407.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.58
    Marker Score: 98116
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.58
    Marker Score: 10689
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.54
    Marker Score: 54199.5
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.52
    Marker Score: 800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.51
    Marker Score: 19226.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.44
    Marker Score: 36500
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.43
    Marker Score: 1597
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.43
    Marker Score: 89471
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.24
    Marker Score: 10376
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.21
    Marker Score: 3704
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.2
    Marker Score: 922
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.2
    Marker Score: 8497
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.16
    Marker Score: 20346.5
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.14
    Marker Score: 7003
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.09
    Marker Score: 3965
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127314
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2
    Marker Score: 20666.5
  • Cell Name: neuron (CL0000540)
    Fold Change: 2
    Marker Score: 8124
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.92
    Marker Score: 18256.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.87
    Marker Score: 16080
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.8
    Marker Score: 1564
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.76
    Marker Score: 9474
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.71
    Marker Score: 468
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.68
    Marker Score: 4784
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.66
    Marker Score: 2566
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.63
    Marker Score: 914
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.34
    Marker Score: 2729
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.33
    Marker Score: 512
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.32
    Marker Score: 5519
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.28
    Marker Score: 744
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.24
    Marker Score: 19353.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.18
    Marker Score: 712
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.17
    Marker Score: 744.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.11
    Marker Score: 1369
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.1
    Marker Score: 4760
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.08
    Marker Score: 2544
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.07
    Marker Score: 3590
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.07
    Marker Score: 7099
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.07
    Marker Score: 6851
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.06
    Marker Score: 2413
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.03
    Marker Score: 5546
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.03
    Marker Score: 2605
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.01
    Marker Score: 497
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48036
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1
    Marker Score: 479
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5340
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.92
    Marker Score: 481
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.9
    Marker Score: 4727
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.89
    Marker Score: 680
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.81
    Marker Score: 555
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.81
    Marker Score: 376
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.8
    Marker Score: 258
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.79
    Marker Score: 353
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.75
    Marker Score: 497
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 356
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.7
    Marker Score: 5255
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.66
    Marker Score: 208
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.64
    Marker Score: 165
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 479
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.59
    Marker Score: 1191
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.57
    Marker Score: 916
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.56
    Marker Score: 703
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.55
    Marker Score: 633
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.55
    Marker Score: 5533
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.51
    Marker Score: 304
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.5
    Marker Score: 220
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.45
    Marker Score: 1025
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.43
    Marker Score: 226.5
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.43
    Marker Score: 121
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.41
    Marker Score: 979
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.4
    Marker Score: 372
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.4
    Marker Score: 114
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.4
    Marker Score: 149
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.4
    Marker Score: 143
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.39
    Marker Score: 703.5
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.38
    Marker Score: 286
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.37
    Marker Score: 1569
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.36
    Marker Score: 386
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.36
    Marker Score: 505
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.35
    Marker Score: 107
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.34
    Marker Score: 375.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.34
    Marker Score: 123
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.34
    Marker Score: 5994
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.32
    Marker Score: 181
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 108
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.3
    Marker Score: 112.5
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.3
    Marker Score: 282.5

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Other Information

**Key characteristics:** * The gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of approximately 1300 amino acids. * The protein is a member of the ATPase superfamily, which is responsible for transporting calcium ions across cell membranes. * ATP2B2 is a calcium-transporting ATPase, which means that it moves calcium ions from an area of higher concentration to an area of lower concentration. * The protein is also a regulator of cardiac conduction, muscle contraction, and sensory perception. **Pathways and functions:** * ATP2B2 is involved in cardiac conduction by regulating the opening and closing of ion channels in the heart. * The protein is also involved in muscle contraction by regulating the opening and closing of calcium channels in muscle cells. * ATP2B2 is also involved in sensory perception by regulating the flow of calcium ions across the sensory cells of the ear. **Clinical significance:** * Mutations in the ATP2B2 gene have been linked to a variety of human diseases, including hyperkalemia, heart failure, and tinnitus. * These diseases are caused by mutations that disrupt the function of the ATP2B2 protein. * Targeted therapy of ATP2B2 has been investigated as a treatment for these diseases. **Other relevant information:** * The ATP2B2 gene is also known as ATPA2B2, CA2BP1, and PMCA2B. * The protein is expressed in a variety of cell types, including endothelial cells, smooth muscle cells, and cardiac cells. * ATP2B2 is a highly conserved protein, with a similar protein found in mammals, birds, and fish.

Genular Protein ID: 1546578330

Symbol: AT2B2_HUMAN

Name: Plasma membrane calcium-transporting ATPase 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1427863

Title: Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2.

PubMed ID: 1427863

DOI: 10.1016/s0888-7543(05)80246-0

PubMed ID: 8428366

Title: von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region.

PubMed ID: 8428366

PubMed ID: 1313367

Title: Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region.

PubMed ID: 1313367

DOI: 10.1111/j.1432-1033.1992.tb16784.x

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 8245032

Title: Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes.

PubMed ID: 8245032

DOI: 10.1016/s0021-9258(19)74484-6

PubMed ID: 7989379

Title:

PubMed ID: 7989379

DOI: 10.1016/s0021-9258(18)31797-6

PubMed ID: 12763866

Title: Characterization of PISP, a novel single-PDZ protein that binds to all plasma membrane Ca2+-ATPase b-splice variants.

PubMed ID: 12763866

DOI: 10.1111/j.1749-6632.2003.tb07230.x

PubMed ID: 12624087

Title: Alternative splicing of the first intracellular loop of plasma membrane Ca2+-ATPase isoform 2 alters its membrane targeting.

PubMed ID: 12624087

DOI: 10.1074/jbc.m301482200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25690014

Title: Plasma membrane Ca2+-ATPases can shape the pattern of Ca2+ transients induced by store-operated C2+ entry.

PubMed ID: 25690014

DOI: 10.1126/scisignal.2005672

PubMed ID: 15829536

Title: Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

PubMed ID: 15829536

DOI: 10.1056/nejmoa043899

PubMed ID: 17234811

Title: A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.

PubMed ID: 17234811

DOI: 10.1073/pnas.0609775104

PubMed ID: 30535804

Title: De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

PubMed ID: 30535804

DOI: 10.1007/s00439-018-1965-1

Sequence Information:

  • Length: 1243
  • Mass: 136876
  • Checksum: 7F10221B7B9AC3A2
  • Sequence:
  • MGDMTNSDFY SKNQRNESSH GGEFGCTMEE LRSLMELRGT EAVVKIKETY GDTEAICRRL 
    KTSPVEGLPG TAPDLEKRKQ IFGQNFIPPK KPKTFLQLVW EALQDVTLII LEIAAIISLG 
    LSFYHPPGEG NEGCATAQGG AEDEGEAEAG WIEGAAILLS VICVVLVTAF NDWSKEKQFR 
    GLQSRIEQEQ KFTVVRAGQV VQIPVAEIVV GDIAQVKYGD LLPADGLFIQ GNDLKIDESS 
    LTGESDQVRK SVDKDPMLLS GTHVMEGSGR MLVTAVGVNS QTGIIFTLLG AGGEEEEKKD 
    KKGVKKGDGL QLPAADGAAA SNAADSANAS LVNGKMQDGN VDASQSKAKQ QDGAAAMEMQ 
    PLKSAEGGDA DDRKKASMHK KEKSVLQGKL TKLAVQIGKA GLVMSAITVI ILVLYFTVDT 
    FVVNKKPWLP ECTPVYVQYF VKFFIIGVTV LVVAVPEGLP LAVTISLAYS VKKMMKDNNL 
    VRHLDACETM GNATAICSDK TGTLTTNRMT VVQAYVGDVH YKEIPDPSSI NTKTMELLIN 
    AIAINSAYTT KILPPEKEGA LPRQVGNKTE CGLLGFVLDL KQDYEPVRSQ MPEEKLYKVY 
    TFNSVRKSMS TVIKLPDESF RMYSKGASEI VLKKCCKILN GAGEPRVFRP RDRDEMVKKV 
    IEPMACDGLR TICVAYRDFP SSPEPDWDNE NDILNELTCI CVVGIEDPVR PEVPEAIRKC 
    QRAGITVRMV TGDNINTARA IAIKCGIIHP GEDFLCLEGK EFNRRIRNEK GEIEQERIDK 
    IWPKLRVLAR SSPTDKHTLV KGIIDSTHTE QRQVVAVTGD GTNDGPALKK ADVGFAMGIA 
    GTDVAKEASD IILTDDNFSS IVKAVMWGRN VYDSISKFLQ FQLTVNVVAV IVAFTGACIT 
    QDSPLKAVQM LWVNLIMDTF ASLALATEPP TETLLLRKPY GRNKPLISRT MMKNILGHAV 
    YQLALIFTLL FVGEKMFQID SGRNAPLHSP PSEHYTIIFN TFVMMQLFNE INARKIHGER 
    NVFDGIFRNP IFCTIVLGTF AIQIVIVQFG GKPFSCSPLQ LDQWMWCIFI GLGELVWGQV 
    IATIPTSRLK FLKEAGRLTQ KEEIPEEELN EDVEEIDHAE RELRRGQILW FRGLNRIQTQ 
    IRVVKAFRSS LYEGLEKPES RTSIHNFMAH PEFRIEDSQP HIPLIDDTDL EEDAALKQNS 
    SPPSSLNKNN SAIDSGINLT TDTSKSATSS SPGSPIHSLE TSL

Genular Protein ID: 3104396399

Symbol: Q4LE63_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 1210
  • Mass: 133770
  • Checksum: 57832447CF2C571B
  • Sequence:
  • PLGPARARTA ANMGDMTNSD FYSKNQRNES SHGGEFGCTM EELRSLMELR GTEAVVKIKE 
    TYGDTEAICR RLKTSPVEGL PGTAPDLEKR KQIFGQNFIP PKKPKTFLQL VWEALQDVTL 
    IILEIAAIIS LGLSFYHPPG EGNEGCATAQ GGAEDEGEAE AGWIEGAAIL LSVICVVLVT 
    AFNDWSKEKQ FRGLQSRIEQ EQKFTVVRAG QVVQIPVAEI VVGDIAQVKY GDLLPADGLF 
    IQGNDLKIDE SSLTGESDQV RKSVDKDPML LSGTHVMEGS GRMLVTAVGV NSQTGIIFTL 
    LGAGGEEEEK KDKKAKQQDG AAAMEMQPLK SAEGGDADDR KKASMHKKEK SVLQGKLTKL 
    AVQIGKAGLV MSAITVIILV LYFTVDTFVV NKKPWLPECT PVYVQYFVKF FIIGVTVLVV 
    AVPEGLPLAV TISLAYSVKK MMKDNNLVRH LDACETMGNA TAICSDKTGT LTTNRMTVVQ 
    AYVGDVHYKE IPDPSSINTK TMELLINAIA INSAYTTKIL PPEKEGALPR QVGNKTECGL 
    LGFVLDLKQD YEPVRSQMPE EKLYKVYTFN SVRKSMSTVI KLPDESFRMY SKGASEIVLK 
    KCCKILNGAG EPRVFRPRDR DEMVKKVIEP MACDGLRTIC VAYRDFPSSP EPDWDNENDI 
    LNELTCICVV GIEDPVRPEV PEAIRKCQRA GITVRMVTGD NINTARAIAI KCGIIHPGED 
    FLCLEGKEFN RRIRNEKGEI EQERIDKIWP KLRVLARSSP TDKHTLVKGI IDSTHTEQRQ 
    VVAVTGDGTN DGPALKKADV GFAMGIAGTD VAKEASDIIL TDDNFSSIVK AVMWGRNVYD 
    SISKFLQFQL TVNVVAVIVA FTGACITQDS PLKAVQMLWV NLIMDTFASL ALATEPPTET 
    LLLRKPYGRN KPLISRTMMK NILGHAVYQL ALIFTLLFVG EKMFQIDSGR NAPLHSPPSE 
    HYTIIFNTFV MMQLFNEINA RKIHGERNVF DGIFRNPIFC TIVLGTFAIQ IVIVQFGGKP 
    FSCSPLQLDQ WMWCIFIGLG ELVWGQVIAT IPTSRLKFLK EAGRLTQKEE IPEEELNEDV 
    EEIDHAEREL RRGQILWFRG LNRIQTQIRV VKAFRSSLYE GLEKPESRTS IHNFMAHPEF 
    RIEDSQPHIP LIDDTDLEED AALKQNSSPP SSLNKNNSAI DSGINLTTDT SKSATSSSPG 
    SPIHSLETSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.