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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1144
Gene name	Cholinergic receptor nicotinic delta subunit
Gene symbol	CHRND
Synonyms (NCBI Gene)	ACHRDCMS2ACMS3ACMS3BCMS3CFCCMSSCCMS
Chromosome	2
Chromosome location	2q37.1
Summary	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

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

635

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita	Likely pathogenic	rs1574630583	RCV000855459
Breathing dysregulation	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846
CHRND-related disorder	Likely pathogenic; Pathogenic	rs776218605, rs375623674	RCV005407835 RCV005871053
Congenital myasthenic syndrome 3A	Likely pathogenic; Pathogenic	rs121909502, rs121909505, rs55868108	RCV000020031 RCV005409603 RCV001332575
Congenital myasthenic syndrome 3B	Likely pathogenic; Pathogenic	rs2106208285, rs2106205676, rs1691699883, rs1223709952, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508	RCV002227557 RCV002250909 RCV002290099 RCV003340624 RCV000020032 RCV000020034 RCV000020035 RCV002288514 RCV000020039
Congenital myasthenic syndrome 3C	Pathogenic; Likely pathogenic	rs121909505, rs762875734	RCV005409603 RCV003147550
Dyspnea	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1574630583	RCV000855459
Lethal multiple pterygium syndrome	Pathogenic; Likely pathogenic	rs1266948051, rs2106208285, rs1285705072, rs751237539, rs750174953, rs1691699883, rs1417363003, rs1223709952, rs764374927, rs775873824, rs1383559519, rs748559696, rs2469723376, rs2469718292, rs2469719176 View all (13 more)	RCV001389142 RCV002541179 RCV001998299 RCV002006966 RCV002012450 RCV005096068 RCV003068350 RCV003091557 RCV003084861 RCV002620845 RCV002604718 RCV002700636 RCV002861721 RCV003006250 RCV003047821 RCV003635159 RCV001218475 RCV001851959 RCV000020036 RCV000020037 RCV000020038 RCV000454340 RCV000805114 RCV005090961 RCV000642109 RCV000814112 RCV000799156 RCV000987056
Muscle weakness	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846
Ptosis	Likely pathogenic	rs1057518958, rs1057518957	RCV000415166 RCV000414846

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs797044480, rs373747090	-
Autosomal recessive multiple pterygium syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs114315112, rs4973046, rs530814490, rs115132742, rs886055785	RCV000365240 RCV000262869 RCV000396956 RCV000266518 RCV000395209
Centronuclear myopathy	Conflicting classifications of pathogenicity	rs1574633904	RCV004586959
Congenital myasthenic syndrome	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs3762528, rs55921262, rs2245601, rs2229194, rs148939701, rs77084550, rs41265127, rs199538903, rs142063328, rs201733876, rs114463490, rs530039427, rs114315112, rs766592644, rs552885486 View all (53 more)	RCV000340882 RCV000345157 RCV000306623 RCV001138073 RCV001142919 RCV001142716 RCV001142817 RCV001137971 RCV000289236 RCV000295199 RCV000293023 RCV000396977 RCV001138184 RCV000370568 RCV000330924 RCV000316475 RCV000294414 RCV000305998 RCV000333080 RCV000335002 RCV000306524 RCV001143028 RCV000372611 RCV000313958 RCV000272262 RCV000287508 RCV000357552 RCV000374066 RCV000272177 RCV000327287 RCV000395197 RCV001141286 RCV000265153 RCV000361511 RCV000329975 RCV000352373 RCV000393354 RCV000266455 RCV000339235 RCV000301128 RCV000381835 RCV001140968 RCV001142713 RCV001141061 RCV001138498 RCV001142920 RCV000662221 RCV001140969 RCV001137968 RCV001137970 RCV001138387 RCV001138388 RCV001138500 RCV001138613 RCV001138614 RCV001141181 RCV001141183 RCV001143030 RCV001143031 RCV001138286 RCV001141283 RCV001141284 RCV001143138 RCV001143141 RCV001136572 RCV001136574 RCV001142714 RCV001138072
Congenital Myasthenic Syndrome, Dominant/Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs114315112, rs4973046, rs530814490, rs115132742, rs886055785	RCV000310467 RCV000317946 RCV000285711 RCV000321601 RCV000290271
Familial cancer of breast	Benign	rs188395796	RCV005892271
Slow-Channel Congenital Myasthenia Syndrome	Conflicting classifications of pathogenicity	rs1574633904	RCV000855540

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)