full name
actinin alpha 3 (gene/pseudogene)

synonyms
ACTN3, ENSG00000248746

HGNC
HGNC:165

Entrez Gene
Gene:89

ENSEMBL
ENSG00000248746

location
chr: 11
start: 66314312
stop: 66330799
strand: +

OMIM
OMIM:102574: ACTN3
OMIM:617749: [Alpha-actinin-3 deficiency]
OMIM:617749: [Sprinting performance]

transcripts
NR_047663.1

pathways
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Cell-Cell communication [NCBI:1270231] [REACTOME:R-HSA-1500931] [PUBMED:20554646] [PUBMED:12598678] [PUBMED:17766183] [PUBMED:18837673] [PUBMED:16691243] [PUBMED:1616050]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Nephrin interactions [NCBI:1270243] [REACTOME:R-HSA-373753] [PUBMED:12832477] [PUBMED:15821412] [PUBMED:16571882] [PUBMED:17766183] [PUBMED:10541305] [PUBMED:19649571] [PUBMED:10393930] [PUBMED:15994232]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]