Gene: LOC102725112
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: NEBL
Alternate names for this Gene: C10orf113|LASP2|LNEBL|bA165O3.1
Gene Summary: This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants.
Gene is located in Chromosome: 10
Location in Chromosome : 10p12.31
Description of this Gene: nebulette
Type of Gene: protein-coding
rs16921209 in
LOC102725112;NEBL gene and
Coronary Aneurysm
PMID 27171184 2016 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.
rs16921209 in
LOC102725112;NEBL gene and
Mucocutaneous Lymph Node Syndrome
PMID 27171184 2016 Upon our previous genotyping data of 157 valid KD subjects, a genome-wide association study (GWAS) has been conducted among 11 (7%) CAA-developed KD patients to reveal five significant genetic variants passed pre-defined thresholds and resulted in two novel susceptibility protein-coding genes, which are NEBL (rs16921209 (P = 7.44 × 10(-9); OR = 32.22) and rs7922552 (P = 8.43 × 10(-9); OR = 32.0)) and TUBA3C (rs17076896 (P = 8.04 × 10(-9); OR = 21.03)).