CHRND - cholinergic receptor nicotinic delta subunit Gene

Also Known as ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1144

About CHRND

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,526,160-232,536,664 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues, 45 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

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 opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

CHRND Products (4)

mRNA	Protein	Name
NM_000751.3	NP_000742.1	acetylcholine receptor subunit delta isoform 1 precursor
NM_001256657.2	NP_001243586.1	acetylcholine receptor subunit delta isoform 2 precursor
NM_001311195.2	NP_001298124.1	acetylcholine receptor subunit delta isoform 3
NM_001311196.2	NP_001298125.1	acetylcholine receptor subunit delta isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA IDA: Inferred from direct assay	11435464	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	11435464	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in musculoskeletal movement	IMP IMP: Inferred from mutant phenotype	18252226	GOA
involved in skeletal muscle tissue growth	IMP IMP: Inferred from mutant phenotype	18252226	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in neuromuscular junction	IDA IDA: Inferred from direct assay	11435464	GOA
is active in neuromuscular junction	IMP IMP: Inferred from mutant phenotype	11435464	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHRND Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
517 a.a.

Protein Preferred Names	Protein Names
acetylcholine receptor subunit delta	acetylcholine receptor, nicotinic, delta (muscle)

CHRND Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84502	CHRND Antibody (YA4199)	WB, FC, ELISA	Human
HY-P84502A	CHRND Antibody (YA4199)(PBS only)	WB, FC, ELISA	Human

Related Diseases

Diseases	Alias
Multiple Pterygium Syndrome, Lethal Type	LMPS Lethal Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Lethal Type Multiple Pterygium Syndrome Lethal Type Pterygium Syndrome Multiple Lethal Type Autosomal Recessive Lethal Multiple Pterygium Syndrome
Myasthenic Syndrome, Congenital, 3c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 3c CMS3C Congenital Myasthenic Syndrome 3c Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type 3c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, 3a, Slow-Channel	Congenital Myasthenic Syndrome 3a CMS3A Congenital Myasthenic Syndrome 3a, Slow-Channel Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel
Myasthenic Syndrome, Congenital, 3b, Fast-Channel	CMS3B Congenital Myasthenic Syndrome 3b Congenital Myasthenic Syndrome 3b, Fast-Channel Myasthenic Syndrome, Congenital, Type 3b, Fast-Channel
Myasthenic Syndrome, Congenital, 1b, Fast-Channel	CMS1B Congenital Myasthenic Syndrome 1b Myasthenic Syndrome, Congenital, Fast-Channel Congenital Myasthenic Syndrome 1b, Fast-Channel Fccms Myasthenic Syndrome, Fast-Channel Congenital Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel Congenital Myasthenic Syndrome Ib
Myasthenic Syndrome, Congenital, 2a, Slow-Channel	CMS2A Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndrome, Congenital, Type Iia Sccms Myasthenic Syndrome, Slow-Channel Congenital Slow-Channel Congenital Myasthenic Syndrome Cms Iia Myasthenic Syndrome, Congenital, Slow-Channel Slow Channel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Postsynaptic Congenital Myasthenic Syndromes	Congenital Myasthenic Syndromes, Postsynaptic
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Brain Angioma	Brain Hemangioma
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Myasthenic Syndrome, Congenital, 13	Congenital Myasthenic Syndrome 13 CMS13 Cmsta2 Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates Congenital Myasthenic Syndrome 13 With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
Cystic Lymphangioma	Cystic Hygroma Cavernous Lymphangioma Macrocystic Lymphatic Malformation Cavernous Lymphatic Malformation Macrocystic Lymphangioma Lymphangioma, Cystic
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Myasthenic Syndrome, Congenital, 6, Presynaptic	Familial Infantile Myasthenia CMS6 Cmsea Congenital Myasthenic Syndrome 6 Familial Infantile Myasthenia Gravis 2 Fimg2 Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea Congenital Myasthenic Syndrome Type Ia2, Formerly Cms1a2, Formerly Cms Ia2, Formerly Myasthenia, Familial Infantile, Formerly Fim, Formerly Myasthenia Gravis, Familial Infantile, 2, Formerly Fimg2, Formerly Cms Ia2 Cms1a2 Congenital Myasthenic Syndrome 6, Presynaptic Congenital Myasthenic Syndrome Type Ia2 Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea Fim Cms1a Cms-Ea Cms Ia Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea Congenital Myasthenic Syndrome Type 1a Congenital Myasthenic Syndrome Type Ia Myasthenic Syndrome, Congenital, Type 6, Presynaptic
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic Cardiomyopathy 9 CMH9 Cardiomyopathy, Familial Hypertrophic 9 Cardiomyopathy, Hypertrophic, Familial, Type 9
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Hyperkalemic Periodic Paralysis	HYPP Gamstorp Disease Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria With Or Without Myotonia Familial Hyperkalemic Periodic Paralysis Hyperkpp Hyperpp Adynamia Episodica Hereditaria Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis, Type 2 Sodium Channel Muscle Disease Familial Hyperpp Hyperkalemic Pp Primary Hyperpp Periodic Paralysis Hyperkalemic Periodic Paralysis Normokalemic NKPP Periodic Paralysis Eukalemic Paralysis, Hyperkalemic Periodic Paralysis, Periodic, Hyperkalemic Potassium Aggravated Myotonia
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02678	CHRND Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22439	Chrnd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28962	Chrnd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHRND	MGD	MGI:87893
Macaca mulatta	CHRND	VGNC	VGNC:71051
Canis familiaris	CHRND	VGNC	VGNC:39246
Bos taurus	CHRND	VGNC	VGNC:27334
Rattus norvegicus	CHRND	RGD	RGD:2352
Others	CHRND	NCBI