Property Summary

NCBI Gene PubMed Count 6
PubMed Score 0.20
PubTator Score 1.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
posterior fossa group B ependymoma 3.300 0.000
medulloblastoma, large-cell -1.200 0.002
lung cancer -1.500 0.000
Pick disease -1.300 0.000
progressive supranuclear palsy -1.200 0.011

Gene RIF (3)

PMID Text
19577669 A 56-year-old female patient with FOAR syndrome and a novel mutation is reported.
19366958 Aberrant shedding of megalin and cubilin may contribute to albuminuria in diabetes and to deficiency states of important vitamins and hormones.
15809689 both in the cytoplasm and nucleus, 4 ankyrin repeats

AA Sequence

MKLTSEKLPKNPFYASVSQYAAKNQKFFQWKKEKTDYTHANLVDKALQLLKERILKGDTLAYFLRGQLYF      1 - 70
EEGWYEEALEQFEEIKEKDHQATYQLGVMYYDGLGTTLDAEKGVDYMKKILDSPCPKARHLKFAAAYNLG     71 - 140
RAYYEGKGVKRSNEEAERLWLIAADNGNPKASVKAQSMLGLYYSTKEPKELEKAFYWHSEACGNGNLESQ    141 - 210
GALGLMYLYGQGIRQDTEAALQCLREAAERGNVYAQGNLVEYYYKMKFFTKCVAFSKRIADYDEVHDIPM    211 - 280
IAQVTDCLPEFIGRGMAMASFYHARCLQLGLGITRDETTAKHYYSKACRLNPALADELHSLLIRQRI       281 - 347
//

Text Mined References (10)

PMID Year Title
19577669 A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
19366958 2009 Microalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15809689 2005 Molecular cloning and characterization of a novel human gene containing 4 ankyrin repeat domains.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12508107 2003 Functional interaction of megalin with the megalinbinding protein (MegBP), a novel tetratrico peptide repeat-containing adaptor molecule.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.