CHRND (cholinergic receptor nicotinic delta subunit)

Gene

• Entrez ID: 1144
• Gene name: Cholinergic receptor nicotinic delta subunit
• Gene symbol: CHRND
• Synonyms: ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006812	Process	Cation transport	IEA
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IDA	11435464
GO:0031594	Component	Neuromuscular junction	IMP	11435464
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	NAS	18252226
GO:0048630	Process	Skeletal muscle tissue growth	IMP	18252226
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0050881	Process	Musculoskeletal movement	IMP	18252226
GO:0050905	Process	Neuromuscular process	NAS	18252226
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IDA	11435464
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	11435464

Other IDs

• MIM: 100720
• HGNC: 1965
• e!Ensembl: 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

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Myasthenic syndrome	Myasthenic Syndrome, Congenital, Fast-Channel, Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	11782989, 11435464, 16916845, 11435464, 18398509, 12499478, 11782989, 16916845, 8872460, 11435464
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Lethal multiple pterygium syndrome	Lethal multiple pterygium syndrome	rs121912670, rs267606726, rs121912672, rs767503038, rs121909502, rs879255564, rs121909505, rs121909506, rs121909507, rs137852801, rs137852805, rs374391312, rs797044677, rs765746795, rs777219451, rs1060499782, rs1064793397, rs55868108, rs1064795719, rs747067203, rs750329103, rs780249576, rs768407867, rs774279192, rs137852798, rs1553578312, rs776218605, rs764266722, rs1574630951, rs762875734, rs1574007436, rs1574645121, rs375623674, rs1683929269, rs771260711
Multiple pterygium syndrome	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	rs267606725, rs121912670, rs121912671, rs267606726, rs121912672, rs767503038, rs797044677, rs765746795, rs777219451, rs747067203, rs780249576, rs774279192, rs764266722, rs1574643342	18252226, 16916845
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Unknown
Disease name	Disease term	dbSNP ID	References
Aplasia of muscle	Aplasia of muscle
Congenital epicanthus	Congenital Epicanthus
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Dysphagia	Deglutition Disorders
Facial paralysis	Facial paralysis
High palate	Byzanthine arch palate
Cystic hygroma	Lymphangioma, Cystic
Micrognathism	Micrognathism
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY		16916845, 11435464, 18398509
Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency	Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Pena shokeir syndrome	Pena-Shokeir syndrome type I
Ptosis	Blepharoptosis, Ptosis	rs139920573
Respiratory failure	Respiratory Failure