Tclin CHRND Acetylcholine receptor subunit delta

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

• Q07001
• A8K661
• B4DT92
• Q52LH4

Gene Name

• CHRND

Ensembl ID

• ENST00000258385
• ENSP00000258385
• ENSG00000135902
• ENST00000543200
• ENSP00000438380

Symbol

• ACHRD
• ACHRD
• CMS2A
• CMS3A
• CMS3B
• CMS3C
• FCCMS
• SCCMS

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

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Ligand-gated Ion Channel / Acetylcholine Receptor / Acetylcholine Receptor Subunit Delta

Protein / Transporter / Ion Channel / Ligand-gated Ion Channel / Gaba Receptor / Acetylcholine Receptor Subunit Delta

Protein / Receptor / Ligand-gated Ion Channel / Acetylcholine Receptor / Acetylcholine Receptor Subunit Delta

Protein / Receptor / Ligand-gated Ion Channel / Gaba Receptor / Acetylcholine Receptor Subunit Delta

DTO Classes

Protein / Ion Channel / Neurotransmitter Receptor, Cys Loop, Ligand-gated Ion Channel (Lic) Family / Acetylcholine Receptor Subfamily / Delta/chrnd Sub-subfamily / Acetylcholine Receptor Subunit Delta

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: 27.73   (req: < 5)

Gene RIFs: 11   (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: 27.73   (req: >= 5)

Gene RIFs: 11   (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