Property Summary

NCBI Gene PubMed Count 10
PubMed Score 4.82
PubTator Score 10.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.000

Synonym

Accession Q9NZP6
Symbols C15orf2

Gene

Gene RIF (6)

PMID Text
24482533 NPAP1 is specific to primate species and absent from the 15q11q13-orthologous regions in all nonprimate mammals.
22694955 C15orf2 is part of the nuclear pore complex or its associated molecular networks.
20020165 These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to Prader-Willi syndrome.
19843651 The results from this study show an involvement of microdeletions at 15q11.2 that predispose patients to idiopathic generalized epilepsies.
18976975 Knockdown of chromosome 15 open reading frame 2 (C15orf2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
17337158 C15orf2 gene is imprinted, with monoallelic expression from the paternal allele in fetal brain.

AA Sequence

MGNLLSKFRPGCRRRPLPGPGRGAPAPLSRDASPPGRAHSVPTPRPFRGLFRRNARRRPSAASIFVAPKR      1 - 70
PCPLPRAAAAPLGVLPAVGWGLAIRKTPMLPARNPPRFGHPSSVRIPPPSRMFTLLLPSPREPAVKARKP     71 - 140
IPATLLEETEVWAQEGPRRVKKDEDPVQIEGEDDEKRTPLSSGEASSTSRSQGTQGDVASFRCSPGPLEG    141 - 210
NVYHKFSENSMSEKAQASPASSCLEGPAMPSTHSQAGCARHLGKPDPDATAPPEPAVGCSLLQQKLAAEV    211 - 280
LNEEPPPSSLGLPIPLMSGKRMPDEKPFCIPPRSAAPPRAARNRPCKRKMSIPLLLPLPPSLPLLWDRGE    281 - 350
LPPPAKLPCLSVEGDLHTLEKSPEYKRNSRILEDKTETMTNSSITQPAPSFSQPVQTTDSLPLTTYTSQV    351 - 420
SAPLPIPDLADLATGPLILPIPPLSTTPKMDEKIAFTIPNSPLALPADLVPILGDQSNEKGGSYNSVVGA    421 - 490
APLTSDPPTPPSSTPSFKPPVTRESPISMCVDSPPPLSFLTLLPVPSTGTSVITSKPMNSTSVISTVTTN    491 - 560
ASAHLTSQTAVDPEVVNMDTTAPSQVVIFTSSLSSRVSSLPNSQIHCSAEQRHPGKTSVYTSPLPFIFHN    561 - 630
TTPSFNQLFGKEATPQPKFEAPDGQPQKASLPSACVFLSLPIIPPPDTSTLVNSASTASSSKPPIETNAM    631 - 700
HTTPPSKAVILQSASVSKKYLPFYLGLPGSGNTQPSGNTASVQGSTSLPAQSVRAPATASNHPLNPGATP    701 - 770
QPKFGAPDGPQQKTSLPSAHDFLSLPIMVPPDTSTLVSSASAASLSKPAIDTSDMNTTPPSKTVILQSTF    771 - 840
VSRKEEYIRFYMGLPGSGNTLHSDSIASAQVSTSFPAQADRRPTTTSSHPLNTGSISHSTLGATDGQQKS    841 - 910
DSSFILGNPATPAPVIGLTSPSVQPLSGSIIPPGFAELTSPYTALGTPVNAEPVEGHNASAFPNGTAKTS    911 - 980
GFRIATGMPGTGDSTLLVGNTIPGPQVIMGPGTPMDGGSIGFSMSAPGPSSTSGELNIGQGQSGTPSTTS    981 - 1050
VFPFGQAAWDPTGHSMAAAPQGASNIPVFGYTSAAAYIPGLDPPTQNSCSGMGGDGTRSIVGGPCVPAFQ   1051 - 1120
QCILQHTWTERKFYTSSTHYYGQETYVRRHVCFQLP                                     1121 - 1156
//

Text Mined References (12)

PMID Year Title
24482533 2014 The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22694955 2012 The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.
20020165 2010 The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.
19843651 2010 Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
18627056 2008 Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.
17337158 2007 C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
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