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Aliases for CHRND Gene

Aliases for CHRND Gene

  • Cholinergic Receptor, Nicotinic, Delta (Muscle) 2 3
  • ACHRD 3 4 6
  • CMS2A 3 6
  • FCCMS 3 6
  • SCCMS 3 6
  • Cholinergic Receptor, Nicotinic, Delta Polypeptide 3
  • Acetylcholine Receptor, Nicotinic, Delta (Muscle) 3
  • Cholinergic Receptor, Nicotinic, Delta 2
  • Acetylcholine Receptor Subunit Delta 3
  • Acetylcholine Receptor 2
  • Delta (Muscle) 2
  • Nicotinic 2

External Ids for CHRND Gene

Previous Symbols for CHRND Gene

  • ACHRD

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, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for CHRND Gene

CHRND (Cholinergic Receptor, Nicotinic, Delta (Muscle)) is a Protein Coding gene. Diseases associated with CHRND include multiple pterygium syndrome, lethal type and cerebellar medulloblastoma. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine binding. 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

Genomic Location for CHRND Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRND Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRND Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn97 and Asn164

Other Protein References for CHRND Gene

No data available for DME Specific Peptides for CHRND Gene

Domains for CHRND Gene

Gene Families for CHRND Gene

HGNC:
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
  • CHR :Cholinergic receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ACHD_HUMAN
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.:
    • Q07001
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:0004889 acetylcholine-activated cation-selective channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding --
GO:0015276 ligand-gated ion channel activity --
GO:0042166 acetylcholine binding IEA --
genes like me logo Genes that share ontologies with CHRND: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
extracellular 1

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 IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRND: view

Pathways 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 --
GO:0006812 cation transport --
GO:0006936 muscle contraction TAS 8872460
genes like me logo Genes that share ontologies with CHRND: view

Compounds for CHRND Gene

(1) Drugbank Compounds for CHRND Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Galantamine
  • (-)-Galanthamine
357-70-0 target allosteric modulator

(1) Novoseek inferred chemical compound relationships for CHRND Gene

Compound -log(P) Hits PubMed IDs
acetylcholine 47.9 4
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 (50.9).

Integrated Proteomics: protein expression 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 expressions with CHRND: view

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
  • 99.19 (n)
  • 98.29 (a)
CHRND 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRND 36
  • 89.47 (n)
  • 90.5 (a)
CHRND 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRND 36
  • 89.75 (n)
  • 92.07 (a)
CHRND 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnd 36
  • 86.46 (n)
  • 87.81 (a)
Chrnd 16
Chrnd 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRND 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRND 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnd 36
  • 86.33 (n)
  • 87.62 (a)
chicken
(Gallus gallus)
Aves CHRND 36
  • 73.98 (n)
  • 70.02 (a)
CHRND 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRND 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1119 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnd 36
  • 67.47 (n)
  • 69.8 (a)
Str.12223 36
zebrafish
(Danio rerio)
Actinopterygii chrnd 36
  • 68.95 (n)
  • 69.35 (a)
chrnd 37
  • 67 (a)
OneToOne
wufa01e01 36
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 37
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-2 37
  • 30 (a)
ManyToMany
acr-3 37
  • 33 (a)
ManyToMany
lev-1 37
  • 34 (a)
ManyToMany
unc-29 37
  • 34 (a)
ManyToMany
acr-2 38
  • 36 (a)
lev-1 38
  • 36 (a)
unc-29 38
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs2767 -- 232,535,364(-) GGGAC(C/T)GTGGC utr-variant-3-prime, nc-transcript-variant
rs1004175 -- 232,536,197(-) GGACC(A/G)CCATA utr-variant-3-prime, nc-transcript-variant
rs1004432 -- 232,534,824(+) TCTAT(C/T)CACCT intron-variant
rs1190433 -- 232,537,161(-) TGAGG(C/G)CCCTA downstream-variant-500B
rs1550093 -- 232,535,023(+) CTCTG(C/T)AGGCA intron-variant

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

Relevant External Links for CHRND Gene

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

Disorders for CHRND Gene

(3) OMIM Diseases for CHRND Gene (100720)

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, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. {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, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:11435464, ECO:0000269 PubMed:12499478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CHRND Gene

Relevant External Links for CHRND

GeneTests
CHRND
GeneReviews
CHRND
Genetic Association Database (GAD)
CHRND
Human Genome Epidemiology (HuGE) Navigator
CHRND
genes like me logo Genes that share disorders with CHRND: view

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 49
  2. A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. (PMID: 2564429) Luther M.A. … Lindstrom J. (J. Neurosci. 1989) 3 4
  3. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PMID: 8872460) Engel A.G. … Sine S.M. (Hum. Mol. Genet. 1996) 3 4
  4. Acetylcholine receptor delta subunit mutations underlie a fast- channel myasthenic syndrome and arthrogryposis multiplex congenita. (PMID: 11435464) Brownlow S. … Beeson D. (J. Clin. Invest. 2001) 3 4
  5. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. (PMID: 11782989) Gomez C.M. … Lasalde-Dominicci J. (Ann. Neurol. 2002) 3 4

Products for CHRND Gene

Sources for CHRND Gene

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