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

    Gene ID: 1144, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
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    Genomic context

    See CHRND in Genome Data Viewer
    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

    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

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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
      A8K661, B4DT92, 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/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: 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_054340333.1XP_054196308.1  acetylcholine receptor subunit delta isoform X1