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CHRND cholinergic receptor nicotinic delta subunit [ Homo sapiens (human) ]

Gene ID: 1144, updated on 11-Apr-2024

Summary

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Official Symbol
CHRNDprovided by HGNC
Official Full Name
cholinergic receptor nicotinic delta subunitprovided by HGNC
Primary source
HGNC:HGNC:1965
See related
Ensembl:ENSG00000135902 MIM:100720; AllianceGenome:HGNC:1965
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
2q37.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232526160..232536664)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233012979..233023446)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233390870..233401374)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233357377-233358197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233358198-233359017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233361686-233362491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233388351-233388860 Neighboring gene serine protease 56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233390966-233391619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233398312-233398832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233399875-233400394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17323 Neighboring gene cholinergic receptor nicotinic gamma subunit Neighboring gene tigger transposable element derived 1 Neighboring gene microRNA 5001

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. Liu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 May 10. PMID 32335884
  2. Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates. Shen XM, et al. J Biol Chem, 2016 Feb 12. PMID 26698174, Free PMC Article
  3. Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. Shen XM, et al. J Clin Invest, 2008 May. PMID 18398509, Free PMC Article
  4. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. Giraud M, et al. Genes Immun, 2004 Jan. PMID 14735155
  5. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Shen XM, et al. Neurology, 2002 Dec 24. PMID 12499478

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
    Title: CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
  2. child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene
    Title: [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
  3. Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality.
    Title: Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
  4. This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional.
    Title: A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.
  5. These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
    Title: Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
  6. No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.
    Title: Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
  7. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
  9. Results describe the effects of a point mutation in the AChR delta subunit from a congenital myasthenia patient.
    Title: Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
  10. study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal
    Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine binding IEA
Inferred from Electronic Annotation
more info
  
enables acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acetylcholine-gated monoatomic cation-selective channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to acetylcholine-gated monoatomic cation-selective channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in acetylcholine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in acetylcholine receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in acetylcholine receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane depolarization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic cation transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in musculoskeletal movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuromuscular process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in synaptic transmission, cholinergic IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of acetylcholine-gated channel complex ISO
Inferred from Sequence Orthology
more info
  
part_of acetylcholine-gated channel complex NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in neuromuscular junction IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
acetylcholine receptor subunit delta
Names
acetylcholine receptor, nicotinic, delta (muscle)
cholinergic receptor, nicotinic delta
cholinergic receptor, nicotinic, delta (muscle)
cholinergic receptor, nicotinic, delta polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008028.1 RefSeqGene

    Range
    4949..15453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000751.3 → NP_000742.1  acetylcholine receptor subunit delta isoform 1 precursor

    See identical proteins and their annotated locations for NP_000742.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC092165, AK300109, X55019
    Consensus CDS
    CCDS2494.1
    UniProtKB/Swiss-Prot
    A8K661, B4DT92, Q07001, Q52LH4
    Related
    ENSP00000258385.3, ENST00000258385.8
    Conserved Domains (2) summary
    pfam02931
    Location:25 → 246
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:253 → 489
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  2. NM_001256657.2 → NP_001243586.1  acetylcholine receptor subunit delta isoform 2 precursor

    See identical proteins and their annotated locations for NP_001243586.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC092165, AK300109, X55019
    Consensus CDS
    CCDS58754.1
    UniProtKB/Swiss-Prot
    Q07001
    Related
    ENSP00000438380.1, ENST00000543200.5
    Conserved Domains (3) summary
    TIGR00860
    Location:23 → 461
    LIC; Cation transporter family protein
    pfam02931
    Location:25 → 231
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:238 → 474
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. NM_001311195.2 → NP_001298124.1  acetylcholine receptor subunit delta isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate internal exons compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC092165, AK300109, AK304890
    UniProtKB/TrEMBL
    B4E3W4
    Conserved Domains (1) summary
    pfam02932
    Location:76 → 295
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  4. NM_001311196.2 → NP_001298125.1  acetylcholine receptor subunit delta isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate internal splice junction compared to variant 1. This difference causes translation initiation at a downstream start codon and results in an isoform (4) with a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC092165, AK300109, CD013895
    UniProtKB/Swiss-Prot
    Q07001
    Conserved Domains (2) summary
    pfam02931
    Location:19 → 145
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:152 → 388
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    232526160..232536664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    233012979..233023446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340333.1 → XP_054196308.1  acetylcholine receptor subunit delta isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q07001.1 GenPept UniProtKB/Swiss-Prot:Q07001

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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