Property Summary

NCBI Gene PubMed Count 22
PubMed Score 24.79
PubTator Score 9.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (40)

Disease log2 FC p
gastric cancer 1.100 1.8e-02
hepatocellular carcinoma 1.200 6.0e-04
pancreatic cancer 1.700 6.5e-03
Waldenstrons macroglobulinemia -1.114 2.7e-02
malignant mesothelioma -4.200 1.8e-09
astrocytic glioma 2.300 3.2e-02
ependymoma 2.400 2.0e-02
oligodendroglioma 1.900 5.0e-03
esophageal adenocarcinoma 1.100 1.9e-02
psoriasis -1.800 1.3e-08
osteosarcoma 1.895 2.6e-05
glioblastoma -1.900 3.4e-06
medulloblastoma -2.500 5.4e-12
atypical teratoid / rhabdoid tumor -1.900 4.4e-05
medulloblastoma, large-cell -3.800 4.0e-04
primitive neuroectodermal tumor -1.900 2.0e-05
hereditary spastic paraplegia -1.249 4.6e-02
Amyotrophic Lateral Sclerosis 1.042 3.0e-06
acute quadriplegic myopathy 1.350 5.8e-06
tuberculosis -2.700 1.3e-05
pancreatic ductal adenocarcinoma liver m... -1.003 2.1e-02
non-small cell lung cancer -1.169 1.0e-12
intraductal papillary-mucinous adenoma (... 1.800 1.6e-03
intraductal papillary-mucinous carcinoma... 1.500 5.1e-03
lung cancer -1.900 8.9e-04
Parkinson's disease 1.100 2.6e-02
Breast cancer 2.800 4.9e-02
interstitial cystitis 1.100 1.1e-03
adult high grade glioma -1.800 8.3e-06
pilocytic astrocytoma -1.900 1.6e-09
pancreatic carcinoma 1.700 6.5e-03
subependymal giant cell astrocytoma -1.601 2.8e-02
Pick disease 1.300 3.7e-03
progressive supranuclear palsy 1.100 7.7e-03
invasive ductal carcinoma -1.300 2.2e-02
ovarian cancer 3.400 1.8e-07
pituitary cancer 1.200 2.2e-03
Down syndrome 1.400 1.7e-03
chronic rhinosinusitis -1.242 5.4e-03
cystic fibrosis and chronic rhinosinusit... -1.133 1.5e-02

 GWAS Trait (1)

Pathway (1)

Gene RIF (4)

PMID Text
25961151 PDE4DIP genetic variation was associated with increased risk for ischemic stroke.
21767579 A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17143517 MMGL-antibody is significantly with a favorable prognosis. Consequently, MMGL-anatibodies may be a useful tumor marker to diagnose and establish a prognosis in patients with esophageal squamous cell carcinoma.

AA Sequence

MSNGYRTLSQHLNDLKKENFSLKLRIYFLEERMQQKYEASREDIYKRNIELKVEVESLKRELQDKKQHLD      1 - 70
KTWADVENLNSQNEAELRRQFEERQQETEHVYELLENKIQLLQEESRLAKNEAARMAALVEAEKECNLEL     71 - 140
SEKLKGVTKNWEDVPGDQVKPDQYTEALAQRDKRIEELNQSLAAQERLVEQLSREKQQLLHLLEEPTSME    141 - 210
VQPMTEELLKQQKLNSHETTITQQSVSDSHLAELQEKIQQTEATNKILQEKLNEMSYELKCAQESSQKQD    211 - 280
GTIQNLKETLKSRERETEELYQVIEGQNDTMAKLREMLHQSQLGQLHSSEGTSPAQQQVALLDLQSALFC    281 - 350
SQLEIQKLQRVVRQKERQLADAKQCVQFVEAAAHESEQQKEASWKHNQELRKALQQLQEELQNKSQQLRA    351 - 420
WEAEKYNEIRTQEQNIQHLNHSLSHKEQLLQEFRELLQYRDNSDKTLEANEMLLEKLRQRIHDKAVALER    421 - 490
AIDEKFSALEEKEKELRQLRLAVRERDHDLERLRDVLSSNEATMQSMESLLRAKGLEVEQLSTTCQNLQW    491 - 560
LKEEMETKFSRWQKEQESIIQQLQTSLHDRNKEVEDLSATLLCKLGPGQSEIAEELCQRLQRKERMLQDL    561 - 630
LSDRNKQVLEHEMEIQGLLQSVSTREQESQAAAEKLVQALMERNSELQALRQYLGGRDSLMSQAPISNQQ    631 - 700
AEVTPTGCLGKQTDQGSMQIPSRDDSTSLTAKEDVSIPRSTLGDLDTVAGLEKELSNAKEELELMAKKER    701 - 770
ESQMELSALQSMMAVQEEELQVQAADMESLTRNIQIKEDLIKDLQMQLVDPEDIPAMERLTQEVLLLREK    771 - 840
VASVESQGQEISGNRRQQLLLMLEGLVDERSRLNEALQAERQLYSSLVKFHAHPESSERDRTLQVELEGA    841 - 910
QVLRSRLEEVLGRSLERLNRLETLAAIGGAAAGDDTEDTSTEFTDSIEEEAAHHSHQQLVKVALEKSLAT    911 - 980
VETQNPSFSPPSPMGGDSNRCLQEEMLHLRAEFHQHLEEKRKAEEELKELKAQIEEAGFSSVSHIRNTML    981 - 1050
SLCLENAELKEQMGEAMSDGWEIEEDKEKGEVMVETVVTKEGLSESSLQAEFRKLQGKLKNAHNIINLLK   1051 - 1120
EQLVLSSKEGNSKLTPELLVHLTSTIERINTELVGSPGKHQHQEEGNVTVRPFPRPQSLDLGATFTVDAH   1121 - 1190
QLDNQSQPRDPGPQSAFSLPGSTQHLRSQLSQCKQRYQDLQEKLLLSEATVFAQANELEKYRVMLTGESL   1191 - 1260
VKQDSKQIQVDLQDLGYETCGRSENEAEREETTSPECEEHNSLKEMVLMEGLCSEQGRRGSTLASSSERK   1261 - 1330
PLENQLGKQEEFRVYGKSENILVLRKDIKDLKAQLQNANKVIQNLKSRVRSLSVTSDYSSSLERPWKLRA   1331 - 1400
VGTLEGSSPHSVPDEDEGWLSDGTGAFYSPGLQAKKDLESLIQRVSQLEAQLPKNGLEEKLAEELRSASW   1401 - 1470
PGKYDSLIQDQARELSYLRQKIREGRGICYLITRHAKDTVKSFEDLLRSNDIDYYLGQSFREQLAQGSQL   1471 - 1540
TERLTSKLSTKDHKSEKDQAGLEPLALRLSRELQEKEKVIEVLQAKLDARSLTPSSSHALSDSHRSPSST   1541 - 1610
SFLSDELEACSDMDIVSEYTHYEEKKASPSHSDSIHHSSHSAVLSSKPSSTSASQGAKAESNSNPISLPT   1611 - 1680
PQNTPKEANQAHSGFHFHSIPKLASLPQAPLPSAPSSFLPFSPTGPLLLGCCETPVVSLAEAQQELQMLQ   1681 - 1750
KQLGESASTVPPASTATLLSNDLEADSSYYLNSAQPHSPPRGTIELGRILEPGYLGSSGKWDVMRPQKGS   1751 - 1820
VSGDLSSGSSVYQLNSKPTGADLLEEHLGEIRNLRQRLEESICINDRLREQLEHRLTSTARGRGSTSNFY   1821 - 1890
SQGLESIPQLCNENRVLREDNRRLQAQLSHVSREHSQETESLREALLSSRSHLQELEKELEHQKVERQQL   1891 - 1960
LEDLREKQQEVLHFREERLSLQENDSRLQHKLVLLQQQCEEKQQLFESLQSELQIYEALYGNSKKGLKAY   1961 - 2030
SLDACHQIPLSSDLSHLVAEVRALRGQLEQSIQGNNCLRLQLQQQLESGAGKASLSPSSINQNFPASTDP   2031 - 2100
GNKQLLLQDSAVSPPVRDVGMNSPALVFPSSASSTPGSETPIINRANGLGLDTSPVMKTPPKLEGDATDG   2101 - 2170
SFANKHGRHVIGHIDDYSALRQQIAEGKLLVKKIVSLVRSACSFPGLEAQGTEVLGSKGIHELRSSTSAL   2171 - 2240
HHALEESASLLTMFWRAALPSTHIPVLPGKVGESTERELLELRTKVSKQERLLQSTTEHLKNANQQKESM   2241 - 2310
EQFIVSQLTRTHDVLKKARTNLEVKSLRALPCTPAL                                     2311 - 2346
//

Text Mined References (31)

PMID Year Title
25961151 2015 Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22864933 2012 Identification of novel germline polymorphisms governing capecitabine sensitivity.
21767579 2011 Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.
21569246 2011 Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18482256 2009 Protein microarray analysis identifies human cellular prion protein interactors.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17923693 2007 Protein kinase A, Ca2+/calmodulin-dependent kinase II, and calcineurin regulate the intracellular trafficking of myopodin between the Z-disc and the nucleus of cardiac myocytes.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17143517 2007 Serum anti-myomegalin antibodies in patients with esophageal squamous cell carcinoma.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12907457 2003 Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
12693553 2003 Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11374908 2001 Isolation of novel heart-specific genes using the BodyMap database.
11134006 2001 Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase.
9455484 1997 Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.