CHRND Gene
protein-coding GIFtS: 63
GCID: GC02P233390
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cholinergic receptor, nicotinic, delta (muscle)(Previous names: cholinergic receptor, nicotinic, delta )
(Previous symbol: ACHRD)
| |
Aliases
for CHRND gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cholinergic Receptor, Nicotinic, Delta (Muscle)1 2 | | Cholinergic Receptor, Nicotinic, Delta1 | | ACHRD1 2 3 5 | | Acetylcholine Receptor Subunit Delta2 | | CMS2A2 5 | | Acetylcholine Receptor, Nicotinic, Delta (Muscle)2 | | FCCMS2 5 | | Cholinergic Receptor, Nicotinic, Delta Polypeptide2 | | SCCMS2 5 | | |
Export aliases for CHRND gene to outside databasesPrevious GC identifers: GC02P231447 GC02P232120 GC02P233354 GC02P233593 GC02P233216 GC02P233099 GC02P225241 |
Summaries
for CHRND gene(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:
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and deltasubunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects allsubunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are acause 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 andsome not, have been found for this gene. (provided by RefSeq, Feb 2012)
UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects allsubunits and leads to opening of an ion-conducting channel across the plasma membrane
 summary
for CHRND: Nicotinic receptors (nAChRs) are ligand-gated ion channels that modulate cell membrane potentials. Each
receptor is composed of pentameric combinations of subunits (alpha1-10, beta1-4, delta, epsilon and gamma).
Nicotinic receptors are generally divided into three functional classes: muscle subunits (alpha1, beta1,
delta, epsilon, gamma), standard neuronal subunits (alpha1-6 and beta2-4) that form in pairwise alphabeta
combinations, and subunits (alpha7-9) that can form homomeric nAChRs. Neuronal nicotinic receptors are found
in the central nervous system and in autonomic ganglia where they regulate processes such as transmitter
release, cell excitability and neuronal integration. Nicotinic receptors located at the neuromuscular
junctions of somatic muscles are responsible for muscular contraction.
Gene Wiki entry for CHRND
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
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
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: 2q37.1CHRND Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P233390: view genomic region
(about GC identifiers)
Start:
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233,390,703 bp from pter |
End:
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233,401,377 bp from pter |
Size:
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10,675 bases |
Orientation:
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plus strand |
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Proteins
for CHRND gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 (inmature muscle) chains
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;Multi-pass membrane protein
Secondary accessions: Q52LH4Explore the universe of human proteins at neXtProt for CHRND: NX_Q07001
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q07001
CHRND Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
CHRND for ontologies About GeneDecksing
CHRND Antibody Products:
Assay Products for CHRND: |
Protein
Domains /
Families
for CHRND gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHRND for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q07001ProtoNet protein and cluster: Q07001 2 Blocks protein families: IPB002394 Nicotinic acetylcholine receptor signature IPB006201 Neurotransmitter-gated ion-channel
UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.Delta/CHRND sub-subfamily |
Function
for CHRND gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ACHD_HUMAN, Q07001Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects allsubunits 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004872 | receptor activity |
-- | -- | | GO:0004889 | acetylcholine-activated cation-selective channel activity |
IEA | -- | | GO:0005230 | extracellular ligand-gated ion channel activity |
-- | -- | | GO:0005515 | protein binding |
-- | -- | | GO:0042166 | acetylcholine binding |
IEA | -- |
CHRND for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | EMD Millipore Clones for the Expression of CHRND | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHRND (NM_000751) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHRND | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRND |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRND |
|
Pathways & Interactions
for CHRND gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Presynaptic nicotinic acetylcholine receptors | | | 2 | Transmission across Chemical Synapses | | | 3 | Calcium channels | | | 4 | CREB Pathway | | | 5 | Nanog in Mammalian ESC Pluripotency | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for CHRND
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRND
5/8 
Reactome Pathways for CHRND (see all 8)
1 
Kegg Pathway (Kegg details for CHRND):
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)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
CHRND for ontologies About GeneDecksing
|
Drugs & Compounds
for CHRND gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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
Compounds for CHRND available from Tocris Bioscience About this table
1 DrugBank Compound for CHRND About this table
1 Novoseek 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
|
Transcripts
for CHRND gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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_0007518 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHRND (NM_000751) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHRND | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRND |
Additional cDNA 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): AI367583 CD013895 CR623061 AI791904 AI821707 X55019 NM_000751 BE856789 AA716738 AA582607 BE780326 AA318119 AI333024 BF439918 BX451793 AI336264 BF309612 BF306695 AU143560 AU160634 BX432931 AI381862 AI868301 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
|
Expression
for CHRND gene
(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
CGAP TAG: --
About this image
See CHRND Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRND
SOURCE GeneReport for Unigene cluster: Hs.156289
SABiosciences Custom PCR Arrays for CHRND
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRND
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHRND | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRND | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRND | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRND |
Orthologs
for CHRND gene
(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 animals.
Orthologs for CHRND gene from 6/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
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 |
-- |
66(a) |
1 ↔ 1 |
GL343304.1(201790-224643) |
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 |
fruit fly
(Drosophila melanogaster) |
Insecta |
nAcRbeta-64B6 |
nicotinic Acetylcholine Receptor beta 64B |
33(a) |
1 → many |
3L(4429349-4435993) |
worm
(Caenorhabditis elegans) |
Secernentea |
lev-13 |
acetylcholine receptor |
36(a)
(best of 3) |
|
IV(13174445-13179316) -- |
ENSEMBL Gene Tree for CHRND (if available)
TreeFam Gene Tree for CHRND (if available) |
Paralogs
for CHRND gene(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 CHRNB12 CHRNB32
18/19 SIMAP similar genes for CHRND using alignment to 8 protein entries: ACHD_HUMAN (see all proteins)
(see all similar genes):HTR3A CHRNE CHRNA6 CHRNA4 CHRNA5 HTR3B
CHRNG CHRNB1 CHRNB4 CHRNA3 CHRNA2 CHRNA7-2
CHRNA1 CHRNB2 CHRNB3 CHRNA9 CHRNA7 CHRNA10
CHRND for paralogs About GeneDecksing
|
Genomic Variants
for CHRND gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHRND (233390703 - 233401377 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRND: --
Human Gene Mutation Database (HGMD): CHRND
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRND |
|
Disorders
/ Diseases
for CHRND gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CHRND for disorders About GeneDecksing
OMIM gene information: 100720
OMIM disorders: 601462 608930 253290
UniProtKB/Swiss-Prot: ACHD_HUMAN, Q07001
Defects in CHRND are a cause of multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]. Multiplepterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethalmultiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contracturescausing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystichygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent Defects in CHRND are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMSis the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscleweakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading toptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading todysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of theAChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes Defects in CHRND are a cause of congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]. FCCMSis a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due tomutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rateof closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result isfailure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential
19  diseases for CHRND: About MalaCardsmultiple pterygium syndrome lethal type congenital myasthenic syndrome myasthenic syndrome myasthenic syndrome, fast-channel congenital
pterygium slow-channel congenital myasthenic syndrome fetal akinesia deformation sequence lymphangioma
cystic lymphangioma myasthenia gravis cerebellar medulloblastoma oligohydramnios
myasthenia arthrogryposis medulloblastoma ptosis
multiple sclerosis hypotonia neuronitis
3 diseases from the University of Copenhagen DISEASES database for CHRND:Myopathy Cystic lymphangioma Neuropathy GeneTests: CHRND
Congenital Myasthenic Syndromes
Genetic Association Database (GAD): CHRND
Human Genome Epidemiology (HuGE) Navigator: CHRND (8 documents)
Export disorders for CHRND gene to outside databases
|
Publications
for CHRND gene (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 40):
(articles sorted by number of sources associating them with CHRND) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (PubMed id 18252226)1, 2 Michalk A.... Hoffmann K. (2008)
- 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)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. (PubMed id 11782989)1, 2 Gomez C.M....Lasalde-Dominicci J. (2002)
- Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. (PubMed id 12499478)1, 2 Shen X.-M.... Engel A.G. (2002)
- Acetylcholine receptor delta subunit mutations underlie a fast- channel myasthenic syndrome and arthrogryposis multiplex congenita. (PubMed id 11435464)1, 2 Brownlow S.... Beeson D. (2001)
- New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PubMed id 8872460)1, 2 Engel A.G....Sine S.M. (1996)
- A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. (PubMed id 2564429)1, 2 Luther M.A.... Lindstrom J. (1989)
- A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1 He C....Hunter D.J. (2010)
|
External Searches for CHRND gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CHRND gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CHRND gene
(According to HUGE)
About This Section
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Specialized Databases showing CHRND gene(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
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| Name | Description |
| PharmGKB entry for CHRND | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND |
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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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Products
for CHRND gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CHRND | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHRND | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRND | | | OriGene Protein Over-expression Lysate for CHRND | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHRND | | OriGene 3'-UTR Clone for CHRND | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRND | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CHRND | | OriGene Custom Protein Services for CHRND | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHRND | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRND | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRND | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHRND | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRND | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRND |
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| | | | Tocris compounds for CHRND |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRND |
|  |  |  |  | | | | ThermoFisher Antibodies for CHRND |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRND |
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