Jump to content
 







Main menu
    


Navigation  


●Main page
 ●Contents
 ●Current events
 ●Random article
 ●About Wikipedia
 ●Contact us
 ●Donate
  



Contribute  


●Help
 ●Learn to edit
 ●Community portal
 ●Recent changes
 ●Upload file
  







Search  

































●Create account

●Log in
 









●Create account
 ● Log in
  



Pages for logged out editors learn more  


●Contributions
 ●Talk
  


















Contents

   



(Top)
  


1 Function  




2 Interactions  




3 Clinical significance  




4 See also  




5 References  




6 Further reading  




7 External links  













CHRND






●Українська
  
Edit links
  








●Article
 ●Talk
  
















●Read
 ●Edit
 ●View history
  







Tools
    


Actions  


●Read
 ●Edit
 ●View history
  



General  


●What links here
 ●Related changes
 ●Upload file
 ●Special pages
 ●Permanent link
 ●Page information
 ●Cite this page
 ●Get shortened URL
 ●Download QR code
 ●Wikidata item
  



Print/export  


●Download as PDF
 ●Printable version
  















Appearance
    

 





From Wikipedia, the free encyclopedia
  

CHRND

Identifiers

Aliases

CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit

External IDs

OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs

Gene location (Human)

Chromosome 2 (human)

Chr.

Chromosome 2 (human)[1]

Chromosome 2 (human)

Genomic location for CHRND

Genomic location for CHRND

Band

2q37.1

Start

232,525,993 bp[1]

End

232,536,667 bp[1]

Gene location (Mouse)

Chromosome 1 (mouse)

Chr.

Chromosome 1 (mouse)[2]

Chromosome 1 (mouse)

Genomic location for CHRND

Genomic location for CHRND

Band

1 C5|1 44.07 cM

Start

87,118,329 bp[2]

End

87,127,792 bp[2]

Bgee

Mouse (ortholog)

  • gastrocnemius muscle

  • muscle of thigh

  • testicle

  • glutes

  • skeletal muscle tissue

  • tibialis anterior muscle

  • mucosa of nose

  • granulocyte

  • hypothalamus

  • blood
    • secondary oocyte

  • tongue muscle

  • zygote

  • embryo

  • primary oocyte

  • muscle of thigh

  • esophagus

  • lip

  • somite

  • skeletal muscle tissue

    • More reference expression data

    BioGPS

    More reference expression data

    Molecular function

  • ion channel activity
  • extracellular ligand-gated ion channel activity
  • ligand-gated ion channel activity
  • acetylcholine-gated cation-selective channel activity
  • transmembrane signaling receptor activity
  • acetylcholine receptor activity
  • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

    • Cellular component

  • postsynaptic membrane
  • membrane
  • synapse
  • cell junction
  • acetylcholine-gated channel complex
  • nucleoplasm
  • cytosol
  • plasma membrane
  • neuromuscular junction
  • integral component of postsynaptic specialization membrane
  • integral component of plasma membrane
  • neuron projection

    • Biological process

  • regulation of membrane potential
  • skeletal muscle contraction
  • response to nicotine
  • cation transport
  • synaptic transmission, cholinergic
  • ion transport
  • skeletal muscle tissue growth
  • neuromuscular synaptic transmission
  • neuromuscular process
  • musculoskeletal movement
  • signal transduction
  • regulation of postsynaptic membrane potential
  • excitatory postsynaptic potential
  • cation transmembrane transport
  • ion transmembrane transport
  • chemical synaptic transmission
  • nervous system process

    • Sources:Amigo / QuickGO

    Species

    Human

    Mouse

    Entrez

    1144

    11447

    Ensembl

    ENSG00000135902

    ENSMUSG00000026251

    UniProt

    Q07001

    P02716

    RefSeq (mRNA)

    NM_000751
    NM_001256657
    NM_001311195
    NM_001311196

    NM_021600

    RefSeq (protein)

    NP_000742
    NP_001243586
    NP_001298124
    NP_001298125

    NP_067611

    Location (UCSC)

    Chr 2: 232.53 – 232.54 Mb

    Chr 1: 87.12 – 87.13 Mb

    PubMed search

    [3]

    [4]

    Wikidata

    Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[5]

    Function[edit]

    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.[5]

    Interactions[edit]

    CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[6][7]

    Clinical significance[edit]

    Mutations in CHRND are known to cause the following conditions:[8]

    See also[edit]

    References[edit]

    1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017
  • ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026251 – Ensembl, May 2017
  • ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
  • ^ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
  • ^ Wang ZZ, Hardy SF, Hall ZW (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
  • ^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.

    • Further reading[edit]

  • Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
  • Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671". J. Neurosci. 9 (3): 1082–96. doi:10.1523/JNEUROSCI.09-03-01082.1989. PMC 6569985. PMID 2564429.
  • Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
  • Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet. 2 (7): 953–9. doi:10.1093/hmg/2.7.953. PMID 8103404.
  • Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
  • Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
  • Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita". J. Clin. Invest. 108 (1): 125–30. doi:10.1172/JCI12935. PMC 209343. PMID 11435464.
  • Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms". Ann. Neurol. 51 (1): 102–12. doi:10.1002/ana.10077. PMC 4841278. PMID 11782989.
  • Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology. 59 (12): 1881–8. doi:10.1212/01.wnl.0000042422.87384.2f. PMID 12499478. S2CID 35612575.

    • External links[edit]

    This article incorporates text from the United States National Library of Medicine, which is in the public domain.

    Cys-loop receptors

    5-HT/serotonin

  • B
  • C
  • D
  • E

    • GABA

  • α2
  • α3
  • α4
  • α5
  • α6
  • β1
  • β2
  • β3
  • γ1
  • γ2
  • γ3
  • δ
  • ε
  • π
  • θ
  • GABAA-ρ

    • Glycine

  • α2
  • α3
  • α4
  • β

    • Nicotinic acetylcholine

  • α2
  • α3
  • α4
  • α5
  • α6
  • α7
  • α9
  • α10
  • β1
  • β2
  • β3
  • β4
  • δ
  • ε

    • Zinc

    Ionotropic glutamates

    Ligand-gated only

  • 2
  • 3
  • 4)
  • Kainate

    • Voltage- and ligand-gated

  • 2A
  • 2B
  • 2C
  • 2D
  • 3A
  • 3B
  • L1A
  • L1B

    • ‘Orphan’

  • δ2

    • ATP-gated channels

    Purinergic receptors

  • 2
  • 3
  • 4
  • 5
  • 6
  • 7


    • Stub icon

    This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

  • t
  • e

    • Retrieved from "https://en.wikipedia.org/w/index.php?title=CHRND&oldid=1164411316"
    Categories: 
    ●Genes on human chromosome 2
     ●Ion channels
     ●Nicotinic acetylcholine receptors
     ●Membrane protein stubs
     Hidden categories: 
    ●Articles with short description
     ●Short description matches Wikidata
     ●Wikipedia articles incorporating text from the United States National Library of Medicine
     ●All stub articles
      


    ●This page was last edited on 9 July 2023, at 04:21 (UTC).
    ●Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization.


    ●Privacy policy
    ●About Wikipedia
    ●Disclaimers
    ●Contact Wikipedia
    ●Code of Conduct
    ●Developers
    ●Statistics
    ●Cookie statement
    ●Mobile view


    Wikimedia Foundation
    Powered by MediaWiki