CHRNG (cholinergic receptor nicotinic gamma subunit)

2009-04-01 Affiliation

Identity

HGNC

CHRNG

LOCATION

2q37.1

LOCUSID

1146

ALIAS

ACHRG

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: 1146
MIM: 100730
HGNC: 1967
Ensembl: ENSG00000196811

Variants:

dbSNP: 1146
ClinVar: 1146
TCGA: ENSG00000196811
COSMIC: CHRNG

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196811	ENST00000389492	P07510
ENSG00000196811	ENST00000651502	P07510

Expression (GTEx)

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

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Acetylcholine Binding And Downstream Events	REACTOME	R-HSA-181431
Activation of Nicotinic Acetylcholine Receptors	REACTOME	R-HSA-629602
Presynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622323
Highly sodium permeable acetylcholine nicotinic receptors	REACTOME	R-HSA-629587
Postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622327

References

Pubmed ID	Year	Title	Citations
30868735	2019	CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.	6
30868735	2019	CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.	6
30461311	2018	Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.	0
30461311	2018	Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.	0
27245440	2016	Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.	10
27245440	2016	Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.	10
25411939	2015	Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.	3
25608830	2015	Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.	6
25411939	2015	Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.	3
25608830	2015	Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.	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
22167768	2012	CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.	20
22167768	2012	CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.	20
20584212	2010	Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.	66

Citation

Dessen P

CHRNG (cholinergic receptor nicotinic gamma subunit)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/50850/chrng-(cholinergic-receptor-nicotinic-gamma-subunit)