CHRND (cholinergic receptor nicotinic delta subunit)

2014-11-01  

Identity

HGNC
CHRND
LOCATION
2q37.1
LOCUSID
1144
ALIAS
ACHRD,CMS2A,CMS3A,CMS3B,CMS3C,FCCMS,SCCMS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1144
MIM: 100720
HGNC: 1965
Ensembl: ENSG00000135902

Variants:

dbSNP: 1144
ClinVar: 1144
TCGA: ENSG00000135902
COSMIC: CHRND

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135902ENST00000258385Q07001
ENSG00000135902ENST00000412233F8WBS0
ENSG00000135902ENST00000441621B4DKT6
ENSG00000135902ENST00000446616F8WB46
ENSG00000135902ENST00000449596C9JJV8
ENSG00000135902ENST00000543200Q07001

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly sodium permeable acetylcholine nicotinic receptorsREACTOMER-HSA-629587
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327

References

Pubmed IDYearTitleCitations
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
205842122010Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.58
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
190860532009Identification 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.34
208401872010Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.32
182522262008Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.29
181799032008Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.19
183985092008Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.14
250805832014A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.5

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