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Tclin
CHRND
Acetylcholine receptor subunit delta

Protein Classes
Protein Summary
Description
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. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258385
  • ENSP00000258385
  • ENSG00000135902
  • ENST00000543200
  • ENSP00000438380

Symbol
  • ACHRD
  • ACHRD
  • CMS2A
  • CMS3A
  • CMS3B
  • CMS3C
  • FCCMS
  • SCCMS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.86
protein domain
0.85
phenotype
0.72
cell type or tissue
0.65
disease
0.53


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 20.96   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 185   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 20.96   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 185   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 5
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 13
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal topography
2
1
2
94.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal topography
2
94.8
Pathways (9)
Acetylcholine binding and downstream events (R-HSA-181431)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Acetylcholine binding and downstream events
Reactome
Highly sodium permeable acetylcholine nicotinic receptors
Reactome
Neuronal System
Reactome
Neurotransmitter receptors and postsynaptic signal transmission
Reactome
Postsynaptic nicotinic acetylcholine receptors
Name
Explore in Pharos
Explore in Source
Acetylcholine binding and downstream events
Highly sodium permeable acetylcholine nicotinic receptors
Neuronal System
Neurotransmitter receptors and postsynaptic signal transmission
Postsynaptic nicotinic acetylcholine receptors
Gene Ontology Terms (28)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
SynGO
Traceable Author Statement (TAS)
ProtInc
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (125)
1 – 10 of 125
PLPPR3
Tbio
Family: Enzyme
Novelty: 0.03836833
p_int: 0.999936151
p_ni: 0.000004274
p_wrong: 0.000059575
Data Source: BioPlex
DNAJC18
Tdark
Novelty: 1.38573997
p_int: 0.999843428
p_ni: 0.000156572
Data Source: BioPlex
SEC11C
Tdark
Family: Enzyme
Novelty: 0.19577003
p_int: 0.999603809
p_ni: 0.000396175
p_wrong: 1.6e-8
Data Source: BioPlex
SIDT2
Tbio
Novelty: 0.07560652
p_int: 0.999257291
p_ni: 0.000742706
p_wrong: 3e-9
Data Source: BioPlex
PKD2
Tchem
Family: IC
Novelty: 0.00305329
p_int: 0.998047563
p_ni: 0.001952437
Score: 0.229
Data Source: BioPlex,STRINGDB
OCA2
Tbio
Novelty: 0.00249611
p_int: 0.997243958
p_ni: 0.000004277
p_wrong: 0.002751765
Data Source: BioPlex
ST7L
Tbio
Novelty: 0.03661324
p_int: 0.997179838
p_ni: 0.002820158
p_wrong: 4e-9
Data Source: BioPlex
EIF2AK3
Tchem
Family: Kinase
Novelty: 0.00044559
p_int: 0.995260128
p_ni: 0.004739869
p_wrong: 2e-9
Data Source: BioPlex
CNNM1
Tdark
Novelty: 0.11053515
p_int: 0.993238319
p_ni: 0.006761607
p_wrong: 7.4e-8
Data Source: BioPlex
DPY19L4
Tdark
Family: Enzyme
Novelty: 0.99997412
p_int: 0.992742107
p_ni: 0.006759009
p_wrong: 0.000498885
Data Source: BioPlex
Publication Statistics
PubMed Score  20.96

PubMed score by year
PubTator Score  10.21

PubTator score by year
Patents
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer