Property Summary

NCBI Gene PubMed Count 16
PubMed Score 13.67
PubTator Score 5.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung carcinoma 413 6.58225815347509E-27
lung adenocarcinoma 2714 4.9823350875123E-17
ovarian cancer 8492 4.24383896588578E-14
ependymoma 2514 5.74318703083559E-7
atypical teratoid / rhabdoid tumor 4369 8.64389511958975E-7
pituitary cancer 1972 1.64285250881923E-5
invasive ductal carcinoma 2950 4.38662758958859E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00125546792421789
glioblastoma 5572 0.00228078461342455
medulloblastoma, large-cell 6234 0.00291576647588161
adult high grade glioma 2148 0.00425401600582541
medulloblastoma 1524 0.01358706451551
primitive neuroectodermal tumor 3031 0.016403657404072
osteosarcoma 7933 0.0221769496557314
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0265675155482163
Disease Target Count Z-score Confidence
Epilepsy 346 0.0 4.0
Neurodegenerative disease 383 0.0 4.0
Neuropathy 210 0.0 4.0
Disease Target Count Z-score Confidence
Hyperopia 33 3.11 1.6
Disease Target Count
Epilepsy, progressive myoclonic 5 1

Expression

  Differential Expression (15)

Synonym

Accession Q7Z3G6 Q0VF44
Symbols EPM5

Gene

  Ortholog (10)

Gene RIF (3)

PMID Text
23711981 2 autism-spectrum-disorder patients had distinct, paternally inherited, heterozygous, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) shared by their affected siblings. These variants had deficits in morphological and electrophysiological assays.
22037766 MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2.
12525887 PRICKLE1 and PRICKLE2 mRNAs were expressed together in brain, eye and testis.

AA Sequence

MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEKVPYVNSPGEK      1 - 70
LRIKQLLHQLPPHDNEVRYCNSLDEEEKRELKLFSSQRKRENLGRGNVRPFPVTMTGAICEQCGGQINGG     71 - 140
DIAVFASRAGHGVCWHPPCFVCTVCNELLVDLIYFYQDGKIYCGRHHAECLKPRCAACDEIIFADECTEA    141 - 210
EGRHWHMKHFCCFECETVLGGQRYIMKEGRPYCCHCFESLYAEYCDTCAQHIGIDQGQMTYDGQHWHATE    211 - 280
TCFCCAHCKKSLLGRPFLPKQGQIFCSRACSAGEDPNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEP    281 - 350
MLNQHSQLQVSSNRLSADVDPLSLQMDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLS    351 - 420
QCNIRTSYSPGGQGAGAQPEMWGKHFSNPKRSSSLAMTGHAGSFIKECREDYYPGRLRSQESYSDMSSQS    421 - 490
FSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPISSLKYTEDMTPTEQTPRGSMESLALSNATGLSADGG    491 - 560
AKRQEHLSRFSMPDLSKDSGMNVSEKLSNMGTLNSSMQFRSAESVRSLLSAQQYQEMEGNLHQLSNPIGY    561 - 630
RDLQSHGRMHQSFDFDGGMAGSKLPGQEGVRIQPMSERTRRRATSRDDNRRFRPHRSRRSRRSRSDNALH    631 - 700
LASEREAISRLKDRPPLRAREDYDQFMRQRSFQESMGHGSRRDLYGQCPRTVSDLALQNAFGDRWGPYFA    701 - 770
EYDWCSTCSSSSESDNEGYFLGEPIPQPARLRYVTSDELLHKYSSYGLPKSSTLGGRGQLHSRKRQKSKN    771 - 840
CIIS                                                                      841 - 844
//

Text Mined References (20)

PMID Year Title
26942292 2016 Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.
26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23711981 2013 Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
22037766 2012 Mink1 regulates ?-catenin-independent Wnt signaling via Prickle phosphorylation.
21276947 2011 Mutations in prickle orthologs cause seizures in flies, mice, and humans.
19303062 2009 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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