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Aliases for CHRND Gene

Aliases for CHRND Gene

  • Cholinergic Receptor Nicotinic Delta Subunit 2 3
  • Cholinergic Receptor, Nicotinic Delta 2 3 5
  • Cholinergic Receptor, Nicotinic, Delta (Muscle) 2 3
  • ACHRD 3 4
  • Cholinergic Receptor, Nicotinic, Delta Polypeptide 3
  • Acetylcholine Receptor, Nicotinic, Delta (Muscle) 3
  • Cholinergic Receptor, Nicotinic, Delta 2
  • Acetylcholine Receptor 2
  • Delta (Muscle) 2
  • Nicotinic 2
  • 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 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 3a, slow-channel. Among its related pathways are Transmission across Chemical Synapses and Nanog in Mammalian ESC Pluripotency. 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 CHRNA3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRND Gene

Genomics for CHRND Gene

Regulatory Elements for CHRND Gene

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 StructureGene Density

RefSeq DNA sequence for CHRND Gene

Proteins for CHRND Gene

  • 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

Proteomics data for CHRND Gene at MOPED

Post-translational modifications for CHRND Gene

  • Glycosylation at Asn 97 and Asn 164
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CHRND Gene

Domains & Families for CHRND Gene

Gene Families for CHRND Gene

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

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:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015464 contributes_to acetylcholine receptor activity 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

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
Jensen Localization Image for CHRND Gene COMPARTMENTS Subcellular localization image for CHRND gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for CHRND Gene

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:0006810 transport IEA,TAS 8872460
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006936 muscle contraction TAS 8872460
GO:0007165 signal transduction 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator 103
Acetylcysteine Approved Pharma Antioxidant;mucolytic agent 293
Atropine Approved Pharma Antagonist MAChRs antagonist 115
Diphemanil Methylsulfate Approved, Withdrawn Pharma 0
Gallamine Triethiodide Approved Pharma 0
genes like me logo Genes that share compounds with CHRND: view

Transcripts for CHRND Gene

Unigene Clusters for CHRND Gene

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

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

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CHRND Gene Hs.156289

genes like me logo Genes that share expression patterns with CHRND: view

Protein tissue co-expression partners for CHRND Gene

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
CHRND 35
  • 99.19 (n)
  • 98.29 (a)
cow
(Bos Taurus)
Mammalia CHRND 36
  • 91 (a)
OneToOne
CHRND 35
  • 89.47 (n)
  • 90.5 (a)
dog
(Canis familiaris)
Mammalia CHRND 35
  • 89.75 (n)
  • 92.07 (a)
CHRND 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnd 36
  • 87 (a)
OneToOne
Chrnd 35
  • 86.46 (n)
  • 87.81 (a)
Chrnd 16
oppossum
(Monodelphis domestica)
Mammalia CHRND 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRND 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnd 35
  • 86.33 (n)
  • 87.62 (a)
chicken
(Gallus gallus)
Aves CHRND 35
  • 73.98 (n)
  • 70.02 (a)
CHRND 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRND 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1119 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnd 35
  • 67.47 (n)
  • 69.8 (a)
Str.12223 35
zebrafish
(Danio rerio)
Actinopterygii chrnd 35
  • 68.95 (n)
  • 69.35 (a)
wufa01e01 35
chrnd 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-2 37
  • 36 (a)
lev-1 37
  • 36 (a)
unc-29 37
  • 36 (a)
acr-2 36
  • 30 (a)
ManyToMany
acr-3 36
  • 33 (a)
ManyToMany
lev-1 36
  • 34 (a)
ManyToMany
unc-29 36
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for CHRND:
  • 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

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
VAR_019566 Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A)
VAR_021210 Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B)
VAR_021211 Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B)
rs41265127 Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) 232,531,393(+) TGGCT(C/G)AGTCT nc-transcript-variant, reference, missense
VAR_036031 A breast cancer sample

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

Variant ID Type Subtype PubMed ID
nsv821918 CNV Gain 20364138
nsv875977 CNV Loss 21882294
nsv875998 CNV Loss 21882294
nsv527789 CNV Loss 19592680
nsv876000 CNV Gain 21882294
dgv4453n71 CNV Loss 21882294
dgv4454n71 CNV Loss 21882294
nsv3211 CNV Insertion 18451855
nsv3212 CNV Loss 18451855
esv2674530 CNV Deletion 23128226
esv2721631 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
CHRND
Human Gene Mutation Database (HGMD)
CHRND

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

Disorders for CHRND Gene

MalaCards: The human disease database

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

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 23 48 67
  2. Determinants in the I^ and I' subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. (PMID: 24240098) Rudell J.C. … Ferns M.J. (J. Biol. Chem. 2014) 3
  3. A single mutation in the acetylcholine receptor I'-subunit causes distinct effects in two types of neuromuscular synapses. (PMID: 25080583) Park J.Y. … Ono F. (J. Neurosci. 2014) 3
  4. Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. (PMID: 23448903) Kodaganur S.G. … Kumar A. (Clin. Dysmorphol. 2013) 3
  5. 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

Products for CHRND Gene

Sources for CHRND Gene

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