Property Summary

NCBI Gene PubMed Count 33
PubMed Score 29.17
PubTator Score 23.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Venous Thromboembolism 34
Disease Target Count Z-score Confidence
Mental depression 58 0.0 1.0
Vascular disease 281 0.0 1.0

Expression

  Differential Expression (33)

Disease log2 FC p
malignant mesothelioma -3.000 5.0e-08
ependymoma 1.400 2.1e-02
cutaneous lupus erythematosus -1.100 3.8e-02
psoriasis -1.200 4.3e-04
glioblastoma -3.400 6.9e-03
osteosarcoma -1.431 1.9e-02
group 3 medulloblastoma -4.300 5.6e-10
atypical teratoid / rhabdoid tumor -1.600 1.5e-02
medulloblastoma, large-cell -3.900 2.6e-06
primitive neuroectodermal tumor -2.800 2.7e-04
primary pancreatic ductal adenocarcinoma -1.410 2.8e-03
non-small cell lung cancer -2.171 9.4e-30
intraductal papillary-mucinous adenoma (... 1.500 1.3e-04
intraductal papillary-mucinous carcinoma... 1.500 5.2e-03
intraductal papillary-mucinous neoplasm ... 1.600 2.2e-02
colon cancer 3.700 3.9e-03
lung cancer -2.000 2.3e-05
active Crohn's disease 2.287 3.4e-03
active ulcerative colitis 1.919 4.6e-03
interstitial cystitis -2.800 9.0e-05
cystic fibrosis -1.600 4.3e-05
lung adenocarcinoma -1.739 2.8e-06
pediatric high grade glioma -2.500 9.1e-05
aldosterone-producing adenoma -1.568 6.5e-03
nasopharyngeal carcinoma -1.600 9.7e-04
Endometriosis -2.159 3.4e-02
spina bifida -2.574 4.9e-02
progressive supranuclear palsy -1.100 5.3e-03
Breast cancer -1.400 3.6e-06
invasive ductal carcinoma 2.400 4.0e-02
ovarian cancer -2.500 1.9e-08
Down syndrome 1.100 1.3e-03
pancreatic cancer -1.500 5.3e-03

Gene RIF (12)

PMID Text
24563210 predisposition to multibacillary leprosy in Vietnam is associated with CUBN and NEBL common variants in the chromosome 10p13 linkage region
23985323 We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2
23389630 Data indicate that lasp-2 interacts with the focal adhesion proteins vinculin and paxillin.
23340173 Report oncogenic potential of MLL-NEBL and NEBL-MLL fusion genes in acute myeloid leukemia.
20951326 Different mutations in nebulette transgene trigger a pathological cascade leading to endocardial fibroelastosis and dilated cardiomyopathy in mutant embryonic mouse hearts.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18823973 the importance of the nebulette-TPM interactions in the maintenance and stability of the thin filaments.
17987659 filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules
16385451 Observational study of gene-disease association. (HuGE Navigator)
15004028 LIM-nebulette, Lasp-1, and zyxin may play an important role in the organization of focal adhesions
11822876 our data demonstrate the importance of this cardiac-specific nebulin isoform in myofibril organization and function. Our data demonstrate that nebulette plays a significant role in the structure and stability of the cardiac Z-line.

AA Sequence

MRVPVFEDIKDETEEEKIGEEENEEDQVFYKPVIEDLSMELARKCTELISDIRYKEEFKKSKDKCTFVTD      1 - 70
SPMLNHVKNIGAFISEAKYKGTIKADLSNSLYKRMPATIDSVFAGEVTQLQSEVAYKQKHDAAKGFSDYA     71 - 140
HMKEPPEVKHAMEVNKHQSNISYRKDVQDTHTYSAELDRPDIKMATQISKIISNAEYKKGQGIMNKEPAV    141 - 210
IGRPDFEHAVEASKLSSQIKYKEKFDNEMKDKKHHYNPLESASFRQNQLAATLASNVKYKKDIQNMHDPV    211 - 280
SDLPNLLFLDHVLKASKMLSGREYKKLFEENKGMYHFDADAVEHLHHKGNAVLQSQVKYKEEYEKNKGKP    281 - 350
MLEFVETPSYQASKEAQKMQSEKVYKEDFEKEIKGRSSLDLDKTPEFLHVKYITNLLREKEYKKDLENEI    351 - 420
KGKGMELNSEVLDIQRAKRASEMASEKEYKKDLESIIKGKGMQAGTDTLEMQHAKKAAEIASEKDYKRDL    421 - 490
ETEIKGKGMQVSTDTLDVQRAKKASEMASQKQYKKDLENEIKGKGMQVSMDIPDILRAKRTSEIYSQRKY    491 - 560
KDEAEKMLSNYSTIADTPEIQRIKTTQQNISAVFYKKEVGAGTAVKDSPEIERVKKNQQNISSVKYKEEI    561 - 630
KHATAISDPPELKRVKENQKNISNLQYKEQNYKATPVSMTPEIERVRRNQEQLSAVKYKGELQRGTAISD    631 - 700
PPELKRAKENQKNISNVYYRGQLGRATTLSVTPEMERVKKNQENISSVKYTQDHKQMKGRPSLILDTPAM    701 - 770
RHVKEAQNHISMVKYHEDFEKTKGRGFTPVVDDPVTERVRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVD    771 - 840
LKVWRTDPGSIFDLDPLEDNIQSRSLHMLSEKASHYRRHWSRSHSSSTFGTGLGDDRSEISEIYPSFSCC    841 - 910
SEVTRPSDEGAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYRAMYDYSAQDEDEVSFRDGDY    911 - 980
IVNVQPIDDGWMYGTVQRTGRTGMLPANYIEFVN                                        981 - 1014
//

Text Mined References (34)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24785509 2014 A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
24563210 2014 CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23985323 2013 Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
23389630 2013 Investigating lasp-2 in cell adhesion: new binding partners and roles in motility.
23340173 2013 Functional analysis of the two reciprocal fusion genes MLL-NEBL and NEBL-MLL reveal their oncogenic potential.
20951326 2010 Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18823973 2008 The nebulette repeat domain is necessary for proper maintenance of tropomyosin with the cardiac sarcomere.
18677772 2008 Ectopic expression of LIM-nebulette (LASP2) reveals roles in cell migration and spreading.
18419822 2008 The LIM and SH3 domain protein family: structural proteins or signal transducers or both?
17987659 2008 Nebulette interacts with filamin C.
17213182 2006 Identification of genes related to Parkinson's disease using expressed sequence tags.
17177073 2007 Linker region of nebulin family members plays an important role in targeting these molecules to cellular structures.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15004028 2004 Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12883659 2003 Identification and characterization of LASP2 gene in silico.
12504851 2002 Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11822876 2002 Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function.
11309420 2001 Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies.
11140941 2000 Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.
10470015 1999 Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains.
9733644 1998 Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8581976 1995 Nebulette: a 107 kD nebulin-like protein in cardiac muscle.