Property Summary

NCBI Gene PubMed Count 33
PubMed Score 29.17
PubTator Score 23.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Venous Thromboembolism 34
Disease Target Count P-value
non-small cell lung cancer 2798 9.3942586871957E-30
group 3 medulloblastoma 2254 5.59549236577194E-10
ovarian cancer 8492 1.92927676863043E-8
malignant mesothelioma 3163 4.98573176591935E-8
medulloblastoma, large-cell 6234 2.5968656924336E-6
lung adenocarcinoma 2714 2.82994262135773E-6
Breast cancer 3099 3.63715069571513E-6
lung cancer 4473 2.26176420267811E-5
cystic fibrosis 1670 4.28747631057353E-5
interstitial cystitis 2299 8.95640805455505E-5
pediatric high grade glioma 2712 9.08739896485289E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 1.28536388144026E-4
primitive neuroectodermal tumor 3031 2.70641790399864E-4
psoriasis 6685 4.33569552446294E-4
nasopharyngeal carcinoma 1056 9.67137354909414E-4
Down syndrome 548 0.00130627927582771
primary pancreatic ductal adenocarcinoma 1271 0.00284702067385698
active Crohn's disease 918 0.00343952951558142
colon cancer 1475 0.00390831021860664
active ulcerative colitis 477 0.00461680157158367
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00521816728523717
progressive supranuclear palsy 674 0.00528043087807666
pancreatic cancer 2300 0.00528731424127447
aldosterone-producing adenoma 664 0.00654457972497325
glioblastoma 5572 0.00685914822879152
atypical teratoid / rhabdoid tumor 4369 0.0149531110950006
osteosarcoma 7933 0.0189854340204723
ependymoma 2514 0.0214534159167415
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0216541854445561
Endometriosis 535 0.0335215315212044
cutaneous lupus erythematosus 1056 0.0378772295548635
invasive ductal carcinoma 2950 0.039628001099091
spina bifida 1064 0.0486903012492191
Disease Target Count Z-score Confidence
Mental depression 58 0.0 1.0
Vascular disease 281 0.0 1.0

Expression

Synonym

Accession O76041 B0YJ45 Q2TBD0 Q70I54 Q9UIC4
Symbols LASP2
LNEBL

Gene

PDB

4F14  

  Ortholog (7)

Species Source
Macaque OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow EggNOG Inparanoid
Pig EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus EggNOG Inparanoid
Xenopus EggNOG Inparanoid

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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