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CHRND Gene(Protein Coding)

Cholinergic Receptor Nicotinic Delta Subunit

GCID:
GC02P232525
GIFtS:
58
Genes Participants
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Aliases for CHRND Gene

Aliases for CHRND Gene

  • Cholinergic Receptor Nicotinic Delta Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Delta (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Delta (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Delta 2 3
  • ACHRD 3 4
  • Cholinergic Receptor, Nicotinic, Delta Polypeptide 3
  • Cholinergic Receptor, Nicotinic, Delta 2
  • Acetylcholine Receptor Subunit Delta 3
  • CMS2A 3
  • FCCMS 3
  • SCCMS 3
  • CMS3A 3
  • CMS3B 3
  • CMS3C 3

External Ids for CHRND Gene

Previous HGNC Symbols for CHRND Gene

  • ACHRD

Previous GeneCards Identifiers for CHRND Gene

  • GC02P231447
  • GC02P232120
  • GC02P233354
  • GC02P233593
  • GC02P233216
  • GC02P233099
  • GC02P233390
  • GC02P225241

Summaries for CHRND Gene

Entrez Gene Summary for CHRND 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 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]

GeneCards Summary for CHRND Gene

CHRND (Cholinergic Receptor Nicotinic Delta Subunit) is a Protein Coding gene. Diseases associated with CHRND include Multiple Pterygium Syndrome, Lethal Type and Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Activation of Nicotinic Acetylcholine Receptors. GO annotations related to this gene include extracellular ligand-gated ion channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot for CHRND Gene

  • 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.

Gene Wiki entry for CHRND Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRND Gene

Genomics for CHRND Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRND Gene

Enhancers for CHRND Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G232521 1.2 Ensembl ENCODE 11.6 -0.5 -465 8.5 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 SP5 REST CHRNG PRSS56 CHRND TIGD1 EIF4E2 SCARNA5
GH02G232514 0.7 ENCODE 9.9 -9.9 -9854 2.6 GATAD2A JUNB CEBPB CEBPG ZFP69B NFIL3 GLIS2 CEBPA GLIS1 ZNF629 PRSS56 CHRND TIGD1 EIF4E2 CHRNG ECEL1
GH02G232566 0.6 ENCODE 11.3 +42.0 42024 2.3 ZNF146 JUND JUN FOS TCF7L2 NFE2L2 EIF4E2 LOC105373929 CHRNG CHRND PRSS56 ECEL1 GIGYF2 PIR51534 TIGD1
GH02G232537 0.5 ENCODE 0.4 +11.5 11534 0.7 CTCF ZNF143 RAD21 CHRNG CHRND
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRND on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CHRND gene promoter:

Genomic Location for CHRND Gene

Chromosome:
2
Start:
232,525,993 bp from pter
End:
232,536,667 bp from pter
Size:
10,675 bases
Orientation:
Plus strand

Genomic View for CHRND Gene

Genes around CHRND on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRND Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRND Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHRND Gene

Proteins for CHRND Gene

Products:

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  3. Assay

  • Protein details for CHRND Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07001-ACHD_HUMAN
    Recommended name:
    Acetylcholine receptor subunit delta
    Protein Accession:
    Q07001
    Secondary Accessions:
    • A8K661
    • B4DT92
    • Q52LH4

    Protein attributes for CHRND Gene

    Size:
    517 amino acids
    Molecular mass:
    58895 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

    Alternative splice isoforms for CHRND Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRND Gene

Protein Expression for CHRND Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRND Gene

  • Glycosylation at posLast=9797 and posLast=164164
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRND Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRND Gene

Domains & Families for CHRND Gene

Gene Families for CHRND Gene

HGNC:
IUPHAR :

Protein Domains for CHRND Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRND Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07001

UniProtKB/Swiss-Prot:

ACHD_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
genes like me logo Genes that share domains with CHRND: view

Function for CHRND Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CHRND Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,delta polypeptide
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015276 ligand-gated ion channel activity TAS --
GO:0022848 contributes_to acetylcholine-gated cation-selective channel activity TAS,IBA --
GO:0042166 contributes_to acetylcholine binding IBA --
genes like me logo Genes that share ontologies with CHRND: view
genes like me logo Genes that share phenotypes with CHRND: view

Human Phenotype Ontology for CHRND Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRND Gene

Localization for CHRND Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRND Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRND gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex TAS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRND: view

Pathways & Interactions for CHRND Gene

genes like me logo Genes that share pathways with CHRND: view

Gene Ontology (GO) - Biological Process for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IEA --
GO:0006810 transport TAS 8872460
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006936 muscle contraction TAS 8872460
genes like me logo Genes that share ontologies with CHRND: view

No data available for SIGNOR curated interactions for CHRND Gene

Drugs & Compounds for CHRND Gene

Products:

  1. Drug

(40) Drugs for CHRND Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator 106
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 330
Atropine Approved, Vet_approved Pharma Antagonist MAChRs antagonist 136
Diphemanil Methylsulfate Approved, Vet_approved, Withdrawn Pharma 0
Gallamine Triethiodide Approved Pharma 0

(38) ApexBio Compounds for CHRND Gene

Compound Action Cas Number
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzethonium Chloride 121-54-0
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Decamethonium Bromide 541-22-0
Diphemanil Methylsulfate 62-97-5
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
LY2119620 886047-22-9
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nicotine Difartrate 65-31-6
Nitenpyram 150824-47-8
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
Pentoxyverine Citrate 23142-01-0
Pilocarpine HCl 54-71-7
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
Succinylcholine Chloride Dihydrate 6101-15-1
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
genes like me logo Genes that share compounds with CHRND: view

Transcripts for CHRND Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRND Gene

(5) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRND Gene

Cholinergic receptor, nicotinic, delta (muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRND Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2: -
SP3: - -
SP4: -

Relevant External Links for CHRND Gene

GeneLoc Exon Structure for
CHRND
ECgene alternative splicing isoforms for
CHRND

Expression for CHRND Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRND Gene

mRNA expression in normal human tissues for CHRND Gene
mRNA expression by BioGPS for CHRND GenemRNA expression by GTEx for CHRND Gene

mRNA differential expression in normal tissues according to GTEx for CHRND Gene

This gene is overexpressed in Muscle - Skeletal (x50.9).

Protein differential expression in normal tissues from HIPED for CHRND Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRND Gene



Protein tissue co-expression partners for CHRND Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRND Gene:

CHRND

SOURCE GeneReport for Unigene cluster for CHRND Gene:

Hs.156289

Evidence on tissue expression from TISSUES for CHRND Gene

  • Heart(4.1)
  • Lung(4)
  • Muscle(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRND Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRND: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CHRND Gene

Orthologs for CHRND Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRND Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CHRND 34 35
  • 99.19 (n)
dog
(Canis familiaris)
 Mammalia CHRND 34 35
  • 89.75 (n)
cow
(Bos Taurus)
 Mammalia CHRND 34 35
  • 89.47 (n)
mouse
(Mus musculus)
 Mammalia Chrnd 34 16 35
  • 86.46 (n)
rat
(Rattus norvegicus)
 Mammalia Chrnd 34
  • 86.33 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CHRND 35
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CHRND 35
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CHRND 34 35
  • 73.98 (n)
lizard
(Anolis carolinensis)
 Reptilia CHRND 35
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrnd 34
  • 67.47 (n)
Str.12223 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1119 34
zebrafish
(Danio rerio)
 Actinopterygii chrnd 34 35
  • 68.95 (n)
wufa01e01 34
fruit fly
(Drosophila melanogaster)
 Insecta nAcRbeta-64B 35
  • 36 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea acr-2 36 35
  • 36 (a)
lev-1 36 35
  • 36 (a)
unc-29 36 35
  • 36 (a)
acr-3 35
  • 33 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 37 (a)
 OneToMany
Species where no ortholog for CHRND was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRND Gene

ENSEMBL:
Gene Tree for CHRND (if available)
TreeFam:
Gene Tree for CHRND (if available)

Paralogs for CHRND Gene

Paralogs for CHRND Gene

(17) SIMAP similar genes for CHRND Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CHRND: view

Variants for CHRND Gene

Sequence variations from dbSNP and Humsavar for CHRND Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121909502 Pathogenic, Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321] 232,531,397(+) TCAGT(C/T)TGTCT reference, missense
rs121909503 Pathogenic, Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] 232,530,131(+) CCTAC(A/C)GGCTG intron-variant, reference, missense
rs121909504 Pathogenic, Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] 232,527,440(+) GGATA(A/G)AGCAC intron-variant, reference, missense, utr-variant-5-prime
rs121909506 Pathogenic, Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] 232,528,301(+) AAGAA(C/T)TTGGA reference, synonymous-codon, missense
rs121909509 Pathogenic, Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322] 232,527,438(+) GTGGA(A/C/T)AGAGC intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CHRND Gene

Variant ID Type Subtype PubMed ID
esv2674530 CNV deletion 23128226
esv2721631 CNV deletion 23290073
esv3594656 CNV loss 21293372
nsv1073020 CNV deletion 25765185
nsv3211 CNV insertion 18451855
nsv3212 CNV deletion 18451855
nsv527789 CNV loss 19592680
nsv821918 CNV gain 20364138
nsv953202 CNV deletion 24416366

Variation tolerance for CHRND Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRND Gene

Human Gene Mutation Database (HGMD)
CHRND
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRND

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRND Gene

Disorders for CHRND Gene

MalaCards: The human disease database

(16) MalaCards diseases for CHRND Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multiple pterygium syndrome, lethal type
  • multiple pterygium syndrome lethal type
myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency
  • congenital myasthenic syndrome 3c
myasthenic syndrome, congenital, 3a, slow-channel
  • congenital myasthenic syndrome 3a
myasthenic syndrome, congenital, 3b, fast-channel
  • congenital myasthenic syndrome 3b
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
- elite association - COSMIC cancer census association via MalaCards
Search CHRND in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACHD_HUMAN
  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:11782989, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:11435464, ECO:0000269 PubMed:12499478, ECO:0000269 PubMed:18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM:616323]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269 PubMed:16916845, ECO:0000269 PubMed:18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHRND

Genetic Association Database (GAD)
CHRND
Human Genome Epidemiology (HuGE) Navigator
CHRND
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRND
genes like me logo Genes that share disorders with CHRND: view

No data available for Genatlas for CHRND Gene

Publications for CHRND Gene

  1. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. (PMID: 14735155) Giraud M. … Garchon H.J. (Genes Immun. 2004) 3 22 46 64
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  3. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone N.L. … Bierut L.J. (Genes Brain Behav. 2010) 3 46 64
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 46 64

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