full name
cholinergic receptor nicotinic delta subunit

synonyms
ACHRD, CMS2A, FCCMS, SCCMS, CHRND, ENSG00000135902

HGNC
HGNC:1965

Entrez Gene
Gene:1144

ENSEMBL
ENSG00000135902

location
chr: 2
start: 233390870
stop: 233401375
strand: +

OMIM
OMIM:100720: CHRND
OMIM:616321: ?Myasthenic syndrome, congenital, 3A, slow-channel
OMIM:616323: ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
OMIM:253290: Multiple pterygium syndrome, lethal type
OMIM:616322: Myasthenic syndrome, congenital, 3B, fast-channel

transcripts
NM_000751.2
NR_046333.1
NR_046334.1
NM_001256657.1

pathways
Acetylcholine Binding And Downstream Events [NCBI:1268787] [REACTOME:R-HSA-181431]
Activation of Nicotinic Acetylcholine Receptors [NCBI:1268788] [REACTOME:R-HSA-629602] [PUBMED:19126755] [PUBMED:11532443] [PUBMED:18691557] [PUBMED:19481063]
Highly sodium permeable acetylcholine nicotinic receptors [NCBI:1268791] [REACTOME:R-HSA-629587] [PUBMED:9110108]
Neuroactive ligand-receptor interaction [NCBI:83053] [KEGG:hsa04080]
Neuronal System [NCBI:1268763] [REACTOME:R-HSA-112316]
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell [NCBI:1268786] [REACTOME:R-HSA-112314]
Postsynaptic nicotinic acetylcholine receptors [NCBI:1268792] [REACTOME:R-HSA-622327] [PUBMED:17689497] [PUBMED:12036180] [PUBMED:17009926]
Presynaptic nicotinic acetylcholine receptors [NCBI:1268789] [REACTOME:R-HSA-622323] [PUBMED:9023878]
Transmission across Chemical Synapses [NCBI:1268766] [REACTOME:R-HSA-112315]