Property Summary

NCBI Gene PubMed Count 16
PubMed Score 13.62
PubTator Score 119.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 4.77652677555901E-78
ependymoma 2514 7.58663083514092E-28
pediatric high grade glioma 2712 2.20719975073157E-10
non-small cell lung cancer 2798 5.46650362902825E-8
glioblastoma 5572 8.29332685137818E-8
atypical teratoid / rhabdoid tumor 4369 1.97789110900126E-7
sonic hedgehog group medulloblastoma 1482 5.47870307140407E-7
lung adenocarcinoma 2714 6.35109810632327E-6
pilocytic astrocytoma 3086 1.37713301393572E-5
lung cancer 4473 4.58132091154299E-5
primitive neuroectodermal tumor 3031 5.27530858884428E-4
medulloblastoma, large-cell 6234 0.00161355017678676
astrocytic glioma 2241 0.00166052428199519
oligodendroglioma 2849 0.00243197383063707
osteosarcoma 7933 0.00540605892730561
psoriasis 6685 0.0292671284644221
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Anorexia nervosa 59 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 3.059 1.5

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytic glioma -2.500 0.002
ependymoma -4.000 0.000
oligodendroglioma -2.300 0.002
psoriasis -1.300 0.029
glioblastoma -3.900 0.000
osteosarcoma 1.484 0.005
sonic hedgehog group medulloblastoma -2.800 0.000
atypical teratoid / rhabdoid tumor -3.400 0.000
medulloblastoma, large-cell -3.000 0.002
primitive neuroectodermal tumor -2.400 0.001
non-small cell lung cancer -1.208 0.000
lung cancer -2.500 0.000
pediatric high grade glioma -3.500 0.000
pilocytic astrocytoma -2.000 0.000
lung adenocarcinoma -1.500 0.000
lung carcinoma 6.200 0.000

Synonym

Accession Q9NTI2 Q9H527 Q9NPU6 Q9NTL2 Q9NYM3
Symbols IB
ATP
ML-1
ATPIB
CAMRQ4

Gene

PANTHER Protein Class (2)

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse EggNOG Inparanoid
Dog OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA Inparanoid
S.cerevisiae OMA Inparanoid

Gene RIF (4)

PMID Text
22892528 ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait.
21454556 CDC50A is the beta-subunit of ATP8A2 and is crucial for the correct folding, stable expression, export from endoplasmic reticulum, and phosphatidylserine flippase activity of ATP8A2
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19778899 P4-ATPase Atp8a2 is a phosphatidylserine flippase in photoreceptor disc membranes

AA Sequence

MSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIP      1 - 70
DVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVN     71 - 140
GQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDF    141 - 210
TGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVL    211 - 280
FGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQA    281 - 350
LFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREP    351 - 420
SSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAA    421 - 490
LVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFE    491 - 560
RLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKN    561 - 630
LLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATR    631 - 700
AAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKK    701 - 770
RVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCIL    771 - 840
YCFYKNVVLYIIELWFAFVNGFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKIT    841 - 910
QNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLET    911 - 980
TAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWR    981 - 1050
AAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRKTPPTLFRGSSLQQGVPHGYA   1051 - 1120
FSQEEHGAVSQEEVIRAYDTTKKKSRKK                                             1121 - 1148
//

Text Mined References (17)

PMID Year Title
26240149 2015 Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.
24077738 2014 P4-ATPases: lipid flippases in cell membranes.
23579954 2013 P4 ATPases: flippases in health and disease.
23568457 2013 Genetic variants associated with disordered eating.
22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
21454556 2011 Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2.
20947505 2010 Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20683487 2010 Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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