Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1144
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic delta subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRND
Synonyms (NCBI Gene) Gene synonyms aliases	ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.	The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to ope

Show/Hide all(27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41265127	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55868108	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs114463490	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121909502	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909503	C>A,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121909504	G>A	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121909505	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, stop gained
rs121909506	T>C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs121909507	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909508	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909509	T>A,C	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs142063328	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145955590	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs199592458	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373747090	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs375623674	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs762875734	A>C	Likely-pathogenic	Splice acceptor variant
rs797044480	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs879255564	AG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1057518957	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518958	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060499782	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795719	A>G	Likely-pathogenic	Splice acceptor variant
rs1553575435	AT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1574630583	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574630951	->ATAC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1574633904	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments
MIRT892096	hsa-miR-1266	CLIP-seq
MIRT892097	hsa-miR-3127-5p	CLIP-seq
MIRT892098	hsa-miR-3918	CLIP-seq
MIRT892099	hsa-miR-4455	CLIP-seq
MIRT892100	hsa-miR-4481	CLIP-seq
MIRT892101	hsa-miR-4518	CLIP-seq
MIRT892102	hsa-miR-4745-5p	CLIP-seq
MIRT892103	hsa-miR-609	CLIP-seq
MIRT2447027	hsa-miR-149	CLIP-seq
MIRT2447027	hsa-miR-149	CLIP-seq

Show/Hide all(54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	ISO
GO:0005892	Component	Acetylcholine-gated channel complex	NAS	15701510
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	8872460
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	TAS	8872460
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	8872460
GO:0031594	Component	Neuromuscular junction	IDA	11435464
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	IMP	11435464
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	NAS	18252226
GO:0048630	Process	Skeletal muscle tissue growth	IMP	18252226
GO:0050881	Process	Musculoskeletal movement	IMP	18252226
GO:0050905	Process	Neuromuscular process	NAS	18252226
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISO
GO:0095500	Process	Acetylcholine receptor signaling pathway	NAS	21480901
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	11435464
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	11435464

MIM	HGNC	e!Ensembl
100720	1965	ENSG00000135902

Protein

UniProt ID

Q07001

Protein name

Acetylcholine receptor subunit delta

Protein function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	25 → 246	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	253 → 489	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTL
SNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNND
GSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEIT
LSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYL
IIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLP
ATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLH
MSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRP
PASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPV
MVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI

Sequence length

517

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Lethal Multiple Pterygium Syndrome	lethal multiple pterygium syndrome	rs879255564, rs1574630951, rs121909505, rs762875734, rs121909506, rs375623674, rs121909507, rs1060499782, rs121909502, rs55868108, rs1064795719, rs776218605	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3C, Congenital myasthenic syndrome 3A	rs121909505, rs762875734, rs121909508, rs121909502, rs55868108, rs121909503, rs121909504, rs879255564	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Centronuclear Myopathy	centronuclear myopathy	N/A	N/A	ClinVar
Multiple Pterygium Syndrome	autosomal recessive multiple pterygium syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Multiple pterygium syndrome	Associate	18179903
Muscle Weakness	Associate	29390429
Muscular Atrophy	Associate	29390429
Myasthenic Syndromes Congenital	Associate	29390429, 39913008
Nephritis Hereditary	Associate	39913008
Neuromuscular Diseases	Associate	26578207
Oguchi disease	Associate	39913008
Pena Shokeir syndrome type 1	Associate	25537362

CHRND (cholinergic receptor nicotinic delta subunit)