full name
nebulin

synonyms
NEB177D, NEM2, NEB, ENSG00000183091

HGNC
HGNC:7720

Entrez Gene
Gene:4703

ENSEMBL
ENSG00000183091

location
chr: 2
start: 152341853
stop: 152591001
strand: -

OMIM
OMIM:161650: NEB (Autosomal recessive inheritance)
OMIM:256030: Nemaline myopathy 2, autosomal recessive

transcripts
ENST00000409198.1
ENST00000397345.3
ENST00000427231.2

pathways
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]