Identity
HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
ACHRD,CMS2A,CMS3A,CMS3B,CMS3C,FCCMS,SCCMS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1144
MIM: 100720
HGNC: 1965
Ensembl: ENSG00000135902
Variants:
dbSNP: 1144
ClinVar: 1144
TCGA: ENSG00000135902
COSMIC: CHRND
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38087897 | 2024 | CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case. | 0 |
| 38087897 | 2024 | CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case. | 0 |
| 32335884 | 2020 | [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. | 0 |
| 32335884 | 2020 | [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. | 0 |
| 26698174 | 2016 | Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates. | 7 |
| 26698174 | 2016 | Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates. | 7 |
| 24240098 | 2014 | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. | 6 |
| 25080583 | 2014 | A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses. | 6 |
| 24240098 | 2014 | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. | 6 |
| 25080583 | 2014 | A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses. | 6 |
| 23448903 | 2013 | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. | 2 |
| 23448903 | 2013 | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. | 2 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20584212 | 2010 | Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. | 66 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
Citation
Dessen P
CHRND (cholinergic receptor nicotinic delta subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61817/chrnd-(cholinergic-receptor-nicotinic-delta-subunit)
