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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHRND Gene

protein-coding   GIFtS: 63
GCID: GC02P233390

Cholinergic Receptor, Nicotinic, Delta (Muscle)

(Previous names: cholinergic receptor, nicotinic, delta)
(Previous symbol: ACHRD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Delta (Muscle)1 2     Cholinergic Receptor, Nicotinic, Delta1
ACHRD1 2 3 5     Delta (Muscle)1
CMS2A2 5     nicotinic1
FCCMS2 5     Acetylcholine Receptor Subunit Delta2
SCCMS2 5     Acetylcholine Receptor, Nicotinic, Delta (Muscle)2
Acetylcholine Receptor1     Cholinergic Receptor, Nicotinic, Delta Polypeptide2

External Ids:    HGNC: 19651   Entrez Gene: 11442   Ensembl: ENSG000001359027   OMIM: 1007205   UniProtKB: Q070013   

Export aliases for CHRND gene to outside databases

Previous GC identifers: GC02P231447 GC02P232120 GC02P233354 GC02P233593 GC02P233216 GC02P233099 GC02P225241


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 congenital myasthenic syndrome, and cerebellar medulloblastoma, and among its related super-pathways are Presynaptic nicotinic acetylcholine receptors and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine binding. An important paralog of this gene is CHRNA5.

UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001
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 Wiki entry for CHRND Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHRND gene promoter:
         ER-alpha   GR   NF-1/L   NF-1   GCNF   GCNF-1   COMP1   SEF-1 (1)   GR-alpha   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRND promoter sequence
   Search SABiosciences Chromatin IP Primers for CHRND

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRND


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

CHRND Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRND gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P233390:  view genomic region     (about GC identifiers)

Start:
233,390,703 bp from pter      End:
233,401,377 bp from pter
Size:
10,675 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001 (See protein sequence)
Recommended Name: Acetylcholine receptor subunit delta precursor  
Size: 517 amino acids; 58895 Da
Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon
(in mature muscle) chains
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: A8K661 B4DT92 Q52LH4
Alternative splicing: 2 isoforms:  Q07001-1   Q07001-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHRND: NX_Q07001

Explore proteomics data for CHRND at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07001

  • CHRND Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRND Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000742.1  NP_001243586.1  

    ENSEMBL proteins: 
     ENSP00000408819   ENSP00000404950   ENSP00000258385   ENSP00000398143   ENSP00000410801  
     ENSP00000438380   ENSP00000437740   ENSP00000391055  
    Reactome Protein details: Q07001
    Human Recombinant Protein Products for CHRND: 
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    Novus Biologicals CHRND Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--

    CHRND for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CHRN: Ligand-gated ion channels / Acetylcholine receptors, nicotinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: &delta 
    Nicotinic acetylcholine receptors

    5/6 InterPro protein domains (see all 6):
     IPR027361 Acetylcholine_rcpt_TM
     IPR002394 Nicotinic_acetylcholine_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry Q07001

    ProtoNet protein and cluster: Q07001

    2 Blocks protein domains:
    IPB002394 Nicotinic acetylcholine receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Delta/CHRND sub-subfamily


    CHRND for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHD_HUMAN, Q07001
    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

         Genatlas biochemistry entry for CHRND:
    cholinergic receptor,nicotinic,delta polypeptide

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005515protein binding ----
    GO:0015276ligand-gated ion channel activity ----
    GO:0042166acetylcholine binding IEA--
         
    CHRND for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHRND About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Presynaptic nicotinic acetylcholine receptors
    Presynaptic nicotinic acetylcholine receptors0.86
    Postsynaptic nicotinic acetylcholine receptors0.86
    Acetylcholine Binding And Downstream Events0.86
    Highly sodium permeable acetylcholine nicotinic receptors0.58
    Activation of Nicotinic Acetylcholine Receptors0.86
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CHRND
        Calcium channels

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRND
        eNOS Signaling
    Intracellular Calcium Signaling

    5/8        Reactome Pathways for CHRND (see all 8)
        Activation of Nicotinic Acetylcholine Receptors
    Transmission across Chemical Synapses
    Acetylcholine Binding And Downstream Events
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell


    1         Kegg Pathway  (Kegg details for CHRND):
        Neuroactive ligand-receptor interaction


    CHRND for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHRND

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for CHRND (Q070013 ENSP000002583854) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNA1P027083, ENSP000002610074I2D: score=2 STRING: ENSP00000261007
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8872460
    GO:0006811ion transport ----
    GO:0006936muscle contraction TAS8872460
    GO:0007165signal transduction TAS8872460
    GO:0007268synaptic transmission TAS--

    CHRND for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHRND for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHRND (ACHD)

    1 DrugBank Compound for CHRND    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048

    1 Novoseek inferred chemical compound relationship for CHRND gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 47.9 5 16916845 (2), 11498047 (1), 14735155 (1)

    Search CenterWatch for drugs/clinical trials and news about CHRND / ACHD

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHRND gene (2 alternative transcripts): 
    NM_000751.2  NM_001256657.1  

    Unigene Cluster for CHRND:

    Cholinergic receptor, nicotinic, delta (muscle)
    Hs.156289  [show with all ESTs]
    Unigene Representative Sequence: NM_000751
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441621(uc021vyi.1) ENST00000449596 ENST00000258385(uc002vsw.3 uc010zmh.2)
    ENST00000412233 ENST00000446616 ENST00000543200(uc010zmg.2) ENST00000536614
    ENST00000457943
    miRNA
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    hsa-miR-3127-5p
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    Additional mRNA sequence: 

    AK291526.1 AK296704.1 AK300109.1 AK304890.1 AK315297.1 BC093923.1 BC093925.1 NR_046333.1 
    NR_046334.1 X55019.1 

    3 DOTS entries:

    DT.40308627  DT.92059554  DT.100680544 

    24/28 AceView cDNA sequences (see all 28):

    X55019 CD013895 NM_000751 CR623061 AI791904 AI367583 AI821707 AA318119 
    BF309612 AU143560 BE780326 AA716738 AI336264 AI333024 BX451793 BF439918 
    BE856789 AA582607 BF306695 AI868301 AI381862 BX432931 AU160634 AL514484 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHRND    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:                                                                                                
    SP2:                                -                                                               
    SP3:                                            -     -                                             
    SP4:                                            -                                                   


    ECgene alternative splicing isoforms for CHRND

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHRND expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CHRND Expression
    About this image


    See CHRND Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRND

    SOURCE GeneReport for Unigene cluster: Hs.156289
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRND

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHRND gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrnd1 , 5 cholinergic receptor, nicotinic, delta polypeptide1, 5 86.46(n)1
    87.81(a)1
      1 (44.07 cM)5
    114471  NM_021600.21  NP_067611.21 
     871906525 
    chicken
    (Gallus gallus)
    Aves CHRND1 cholinergic receptor, nicotinic, delta 73.7(n)
    69.43(a)
      424940  NM_001031317.1  NP_001026488.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRND6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343304.1(201488-224822)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.11192 Xenopus mRNA for acetylcholine receptor delta subunit 75.15(n)    X07069.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa01e012 wufa01e01 74.05(n)   334725  AA497144.1 


    ENSEMBL Gene Tree for CHRND (if available)
    TreeFam Gene Tree for CHRND (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHRND gene
    CHRNA52  CHRNA22  CHRNA12  CHRNA62  CHRNA72  CHRNE2  CHRNB42  CHRNA42  
    CHRNA102  CHRNA92  CHRNB22  CHRNG2  CHRNA32  CHRFAM7A2  CHRNB32  CHRNB12  
    17 SIMAP similar genes for CHRND using alignment to 6 protein entries:     ACHD_HUMAN (see all proteins):
    HTR3A    CHRNA6    CHRNE    CHRNA5    CHRNB4    CHRNA4
    CHRNA7-2    CHRNA2    CHRNG    CHRNB1    CHRNA3    CHRNA1
    CHRNB2    CHRNB3    CHRNA9    CHRNA7    CHRNA10

    CHRND for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/364 SNPs in CHRND are shown (see all 364)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0212104
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212102 E K mis40--------
    VAR_0212114
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212112 P Q mis40--------
    VAR_0439054
    Multiple pterygium syndrome, lethal type (LMPS)4--see VAR_0439052 F L mis40--------
    VAR_0360314
    A breast cancer sample4--see VAR_0360312 D E mis40--------
    VAR_0195664
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0195662 S F mis40--------
    rs412651271,2,4
    C,FMyasthenic syndrome, congenital, slow-channel (SCCMS)4 --232768743(+) TGGCTC/GAGTCT 6 Q E mis14Minor allele frequency- G:0.00MN NA EU 5929
    rs1219095071,2
    Cpathogenic1232772496(+) GGAACC/TGAGTG 6 R * stg10--------
    rs2016107151,2
    C--225247576(-) CATTTC/TTTTTT 4 -- int10--------
    rs113852251,2
    C,F--225249388(+) CAAGAG/-AATCA 4 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs672402101,2
    C--225249390(+) AAGAA-/GATCAC 4 -- int10--------

    HapMap Linkage Disequilibrium report for CHRND (233390703 - 233401377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for CHRND (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721631CNV Deletion23290073
    esv2674530CNV Deletion23128226
    nsv3211CNV Insertion18451855
    dgv4453n71CNV Loss21882294
    nsv527789CNV Loss19592680
    nsv875977CNV Loss21882294
    nsv875998CNV Loss21882294
    dgv4454n71CNV Loss21882294
    nsv3212CNV Loss18451855
    nsv821918CNV Gain20364138


    Human Gene Mutation Database (HGMD): CHRND
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRND
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRND

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 100720   
    OMIM disorders: 601462  608930  253290  
    UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001
  • 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. 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.
    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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20 diseases for CHRND:    About MalaCards
    congenital myasthenic syndrome    cerebellar medulloblastoma    chrnd-related congenital myasthenic syndrome    chrnd-related multiple pterygium syndrome, lethal type
    multiple pterygium syndrome lethal type    fetal akinesia deformation sequence    cystic lymphangioma    myasthenic syndrome, fast-channel congenital
    pterygium    oligohydramnios    lymphangioma    slow-channel congenital myasthenic syndrome
    hypotonia    myasthenia gravis    medulloblastoma    ophthalmoplegia
    nicotine dependence    neuronitis    myopathy    neuropathy

    3 diseases from the University of Copenhagen DISEASES database for CHRND:
    Myopathy     Neuropathy     Cystic lymphangioma

    CHRND for disorders           About GeneDecksing

    GeneTests: CHRND
    GeneReviews: CHRND
    Genetic Association Database (GAD): CHRND
    Human Genome Epidemiology (HuGE) Navigator: CHRND (8 documents)

    Export disorders for CHRND gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHRND gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with CHRND)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. (PubMed id 14735155)1, 4, 9 Giraud M....Garchon H.J. (2004)
    2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    3. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)1, 4 Saccone N.L....Bierut L.J. (2010)
    4. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    5. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PubMed id 19259974)1, 4 Saccone N.L....Bierut L.J. (2009)
    6. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    7. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    8. Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study. (PubMed id 18625075)1, 4 McArdle P.F....Steinle N. (2008)
    9. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (PubMed id 18252226)1, 2 Michalk A.... Hoffmann K. (2008)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1144 HGNC: 1965 AceView: CHRND Ensembl:ENSG00000135902 euGenes: HUgn1144
    ECgene: CHRND Kegg: 1144 H-InvDB: CHRND

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHRND Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHRND gene:
    Search GeneIP for patents involving CHRND

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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