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

rs11012476 in NEBL gene and Chemical and Drug Induced Liver Injury PMID 28388302 2017 Genome-Wide Association and Replication Study of Hepatotoxicity Induced by Antiretrovirals Alone or with Concomitant Anti-Tuberculosis Drugs.

rs11012476 in NEBL gene and HIV Infections PMID 28388302 2017 Genome-Wide Association and Replication Study of Hepatotoxicity Induced by Antiretrovirals Alone or with Concomitant Anti-Tuberculosis Drugs.

rs74807419 in NEBL gene and Rheumatoid Arthritis PMID 30166627 2018 Genome-wide association study of response to tumour necrosis factor inhibitor therapy in rheumatoid arthritis.

rs11012476 in NEBL gene and Tuberculosis PMID 28388302 2017 Genome-Wide Association and Replication Study of Hepatotoxicity Induced by Antiretrovirals Alone or with Concomitant Anti-Tuberculosis Drugs.

rs4748741 in NEBL gene and Uric acid measurement (procedure) PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

rs12263258 in NEBL gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.