Property Summary

NCBI Gene PubMed Count 11
PubMed Score 44.86
PubTator Score 11.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Mental retardation, X-linked 98 1
Disease Target Count P-value
lung carcinoma 2844 1.65075214981359E-38
oligodendroglioma 2849 3.65535108946047E-8
ovarian cancer 8492 6.73189900455031E-7
intraductal papillary-mucinous carcinoma (IPMC) 2988 1.35564725258639E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 1.82048483531196E-4
group 4 medulloblastoma 1875 2.9337351361519E-4
medulloblastoma, large-cell 6234 4.30388892218506E-4
adult high grade glioma 2148 0.00101202123532468
atypical teratoid / rhabdoid tumor 4369 0.00255050370425828
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00256024949924857
active ulcerative colitis 477 0.00336327811872629
pilocytic astrocytoma 3086 0.00475270281101855
active Crohn's disease 918 0.0049689140088845
glioblastoma 5572 0.00789949304860178
osteosarcoma 7933 0.0175757837846886
gastric carcinoma 832 0.0233365545307198
subependymal giant cell astrocytoma 2287 0.0239849922979399
astrocytic glioma 2241 0.0262176874284487
ependymoma 2514 0.0287713287134437
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 3.662 1.8
Disease Target Count Z-score Confidence
Xanthogranulomatous pyelonephritis 4 7.77 3.9

Expression

Gene RIF (4)

PMID Text
25900396 Two unrelated patients with X-linked intellectual disability found having the KIAA2022 mutation phenotype.
24071057 Xpn regulates cell-cell and cell-matrix adhesion and cellular migration by regulating the expression of adhesion molecules
23615299 study describes 3 new families with likely pathogenic mutations of KIAA2022 and further defined clinical and genetic phenotypes; role of KIAA2022 in neuronal development, together with the clinical features of patients observed, provides evidence that KIAA2022 is essential for proper brain development
15466006 disrupted in X-linked mental retardation

AA Sequence

MDNQQDKAIVASANGENTLINGVKENDSEDQDVAMKSFAALEAAAPIQPTPVAQKETLMYPRGLLPLPSK      1 - 70
KPCMQSPPSPLGLIEAPEHAANSASVNAISLTSGIAKGLNTWSLPNECEKAPFAIMEPAGMSALNGDCLM     71 - 140
QPSRTCLGCFMESKDAVDPEPGISLKVGDLNRDYETCAVSDIGIQCINAGENMKYGEQLLSDQLLGFPLH    141 - 210
KSRAGDRRETEKPDIDLEDPAQKSYYEALLLDKCNTEEALLANSNQDWGYFETFISESKIELLDLCSKNE    211 - 280
LSVNLFSEEDVDNYMFDDDESTLGSDVCSLKIRYESFQDNVRDKTTLLMQEDAQFNFFPSVFTTCPKRES    281 - 350
KSGALKQSSDFSQFKVPDVSIIWGEEDKNLDKKKGKEEGQEDKGVEKKDGKDNGEKPALNKPCSGTEVEQ    351 - 420
LKNPKQGHLANSLETSGSFSDDSSFIEISYDAMGEIKDCSRYMARDTNSGSSSSQQNYGLRAKRKVRYSE    421 - 490
DYLYDVDSLEGEKVNERKEWLPVGSKEEDDDEWCPKKRRKVTRKEPPVIIKYIIINRFKGEKNMLVKLGK    491 - 560
VDASETTVNLSENQLNKYAKLAPLKGFWQKKKKQRNTNTDSIKTPFSQKQSFEPGSFEVSFLPPARKRKS    561 - 630
KLGNRHRIQRIPSIEISASSKQISLCNDQRHASNHKEDGGLKGTLKSAPLGAPSCANGSHLNDITGPDSV    631 - 700
KVKAQDTEFKGPERKVLNKIKFKSEARLKSKKVKAAGQESKPIVQMSPLLENQSSKANLKNEVIPGTSNS    701 - 770
SRLSEFHEAKAAKSSTFLPTTCSSEMPLSSANVTTNIPVIPGGYLQTLLDASDLSNNTSISYFSHHSPEQ    771 - 840
NEGSLTQTEKSFVPLQPTQDCVLTSSSDSELQQSSHNFKMESSNYRNVWPNKATSGTQEFMAEVSREIAP    841 - 910
TQSSEFGASQVVSMENNLTPTTYNPICLNSGGSNCNKVLYDSMQDTQLPSDDSYQLCHFNNGEICFPFQQ    911 - 980
GPVNMDDGRLFSFDSMAPLSVSSSNYCSLSLKSCEKDGDDDITDDFLAHCSPKLVIQQSIDEIAPLKEST    981 - 1050
DLLDISNFTPDKFRHSSLSEMSPPDTPSLSPQITRCESMKTLGTLKGFQEGVPGPLDSVEKIKWDCSTLS   1051 - 1120
RQVQMEDGFTLNNHQFQFHMFNDEDSVSLLQKNPCLSTFNDPSGQISTNNKVSKSRKKSSPSKSGAMNQS   1121 - 1190
SSQKNTRKKSLKGNNKGIEKPPGKNSRQVPKSTKKGKYMAAINGEKMQIGIGRGGSQTNTISSTGKTLAE   1191 - 1260
CIQHGGPMASMKMPSQKGLSGDWALGKESSPGWSDMSMGTNTNSLLDDDQREFQEPSYILSNIASGMADV   1261 - 1330
QRFMMASIEPLWEPMEHHGDPNIFYSPESNSLKLKTLKILAGTPQESKKKINSGSQGATKNHRSIKGVSK   1331 - 1400
SNGKTAIGDPGRANMPGYNEDSRSTFFDKKYSNMSTLGNNGPTHKKLYRHKSSSKALRDEKCKGKHMERE   1401 - 1470
QVHKDESGTASFEKLRDSDYNLLKAETTFWVLPVFEEETRIFQKDI                           1471 - 1516
//

Text Mined References (12)

PMID Year Title
27822498 The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and ?-Catenin Signaling.
25900396 2015 Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
25394356 2015 A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.
24071057 2013 XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
23615299 2013 Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
22531377 2012 Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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