Property Summary

NCBI Gene PubMed Count 20
PubMed Score 13.19
PubTator Score 8.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count
Intellectual disability 573
Disease Target Count P-value
oligodendroglioma 2849 4.32529526977408E-15
medulloblastoma 1524 1.97174662111545E-9
atypical teratoid / rhabdoid tumor 4369 3.84399651555158E-9
pilocytic astrocytoma 3086 1.90121398740353E-7
glioblastoma 5572 2.12081612174303E-7
pediatric high grade glioma 2712 8.41785090038977E-7
ependymoma 2514 1.14323095039706E-6
medulloblastoma, large-cell 6234 1.95949974975111E-5
ovarian cancer 8492 5.23274669534823E-5
ulcerative colitis 2087 7.1039140761708E-5
primitive neuroectodermal tumor 3031 1.01388290025608E-4
psoriasis 6685 5.15991707522412E-4
osteosarcoma 7933 0.00210025293711408
astrocytic glioma 2241 0.00776015421830888
Pick disease 1893 0.0115792911395998
subependymal giant cell astrocytoma 2287 0.0243462157745812
gastric carcinoma 832 0.0330979215331977

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -1.300 0.008
psoriasis -2.500 0.001
glioblastoma -2.100 0.000
oligodendroglioma -1.200 0.000
osteosarcoma -1.254 0.002
ependymoma -1.400 0.000
atypical teratoid / rhabdoid tumor -2.500 0.000
medulloblastoma -1.500 0.000
medulloblastoma, large-cell -2.000 0.000
primitive neuroectodermal tumor -1.500 0.000
pediatric high grade glioma -1.700 0.000
pilocytic astrocytoma -1.800 0.000
subependymal giant cell astrocytoma -1.594 0.024
Pick disease -1.500 0.012
gastric carcinoma 1.100 0.033
ulcerative colitis 1.500 0.000
ovarian cancer 2.100 0.000

Synonym

Accession Q96PE3 O15326 Q13187 Q53TD8 Q8TC02
Symbols INPP4
TVAS1

Gene

  Ortholog (12)

Gene RIF (6)

PMID Text
25338135 Data adds a new etiology to the spectrum of hindbrain malformations in human, and when presented with myoclonic epilepsy may lead to the clinical suspicion of INPP4A defect.
20463662 INPP4A represents the first signalling protein with a function in neurons to suppress excitotoxic cell death
19264973 Observational study of gene-disease association. (HuGE Navigator)
18187694 The +110832A/G (Thr/Ala) variant of INPP4A was significantly associated with asthma in an Indian population.
18187694 Observational study of gene-disease association. (HuGE Navigator)
15716355 in quiescent cells, the 4-phosphatase colocalized with early and recycling endosomes

AA Sequence

MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAV      1 - 70
SVTTPPQAFWTKHAQTEIIEGTNNPIFLSSIAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIV     71 - 140
KDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDESLTEALGIRS    141 - 210
KYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEEL    211 - 280
GELSPCWESLRRQIVTQYQTIILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGG    281 - 350
SDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHFEECCTSSGCQSIIYIPQDVVRAKEIIAQINT    351 - 420
LKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTS    421 - 490
TEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCE    491 - 560
DVFPCAGSCTSKKGNPDSHAYWIRPEDPFCDVPSSPCPSTMPSTACHPHLTTHCSPPPEESSPGEWSEAL    561 - 630
YPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDD    631 - 700
GFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNV    701 - 770
RVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEV    771 - 840
LPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQ    841 - 910
CLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET       911 - 977
//

Text Mined References (24)

PMID Year Title
25869668 2015 Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
25338135 2015 Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23092984 2012 Genome-wide association of mood-incongruent psychotic bipolar disorder.
21269460 2011 Initial characterization of the human central proteome.
20463662 2010 The PtdIns(3,4)P(2) phosphatase INPP4A is a suppressor of excitotoxic neuronal death.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19264973 2009 Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.
18562305 2008 Expression profiling of PBMC-based diagnostic gene markers isolated from vasculitis patients.
18187694 2008 A genetic variation in inositol polyphosphate 4 phosphatase a enhances susceptibility to asthma.
More...