full name
anoctamin 5

synonyms
GDD1, LGMD2L, TMEM16E, ANO5, ENSG00000171714

HGNC
HGNC:27337

Entrez Gene
Gene:203859

ENSEMBL
ENSG00000171714

location
chr: 11
start: 22214199
stop: 22304913
strand: +

OMIM
OMIM:608662: ANO5 (Autosomal dominant inheritance)
OMIM:166260: Gnathodiaphyseal dysplasia
OMIM:613319: Miyoshi muscular dystrophy 3
OMIM:611307: Muscular dystrophy, limb-girdle, autosomal recessive 12

transcripts
NM_213599.2
NM_001142649.1

pathways
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]