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

Gene ID: 1144, updated on 5-Aug-2022

Summary

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

See CHRND in Genome Data Viewer
Location:
2q37.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232526160..232536664)
110 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 serine protease 56 Neighboring gene cholinergic receptor nicotinic gamma subunit Neighboring gene tigger transposable element derived 1 Neighboring gene microRNA 5001

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in acetylcholine receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
involved_in cation transport IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuromuscular process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
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 
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IC
Inferred by Curator
more info
PubMed 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
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 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_000751.3NP_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
    Q07001, Q52LH4
    Related
    ENSP00000258385.3, ENST00000258385.8
    Conserved Domains (2) summary
    pfam02931
    Location:25246
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:253489
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. NM_001256657.2NP_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:23461
    LIC; Cation transporter family protein
    pfam02931
    Location:25231
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:238474
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. NM_001311195.2NP_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/Swiss-Prot
    Q07001
    UniProtKB/TrEMBL
    B4E3W4
    Conserved Domains (1) summary
    pfam02932
    Location:76295
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. NM_001311196.2NP_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:19145
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:152388
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)