Property Summary

NCBI Gene PubMed Count 33
Grant Count 15
R01 Count 4
Funding $1,803,850.08
PubMed Score 29.17
PubTator Score 23.55

Knowledge Summary

Patent

No data available

Expression

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)
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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.
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