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Target not currently curated in GtoImmuPdb
Target id: 475
Nomenclature: nicotinic acetylcholine receptor γ subunit
Gene and Protein Information ![]() |
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Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | 4 | 517 | 2q37.1 | CHRNG | cholinergic receptor nicotinic gamma subunit | 6 |
Mouse | 4 | 519 | 1 44.07 cM | Chrng | cholinergic receptor, nicotinic, gamma polypeptide | 2 |
Rat | 4 | 519 | 9q35 | Chrng | cholinergic receptor nicotinic gamma subunit | 8 |
Previous and Unofficial Names ![]() |
ACHRG | AChR gamma subunit | Achr-3 | Acrg | cholinergic receptor, nicotinic, gamma (muscle) | cholinergic receptor, nicotinic gamma | cholinergic receptor |
Database Links ![]() |
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CATH/Gene3D | 2.70.170.10 |
ChEMBL Target | CHEMBL1907588 (Hs), CHEMBL3038460 (Mm) |
Ensembl Gene | ENSG00000196811 (Hs), ENSMUSG00000026253 (Mm), ENSRNOG00000019602 (Rn) |
Entrez Gene | 1146 (Hs), 11449 (Mm), 25753 (Rn) |
Human Protein Atlas | ENSG00000196811 (Hs) |
KEGG Gene | hsa:1146 (Hs), mmu:11449 (Mm), rno:25753 (Rn) |
OMIM | 100730 (Hs) |
Orphanet | ORPHA119428 (Hs) |
Pharos | P07510 (Hs) |
RefSeq Nucleotide | NM_005199 (Hs), NM_009604 (Mm), NM_019145 (Rn) |
RefSeq Protein | NP_005190 (Hs), NP_033734 (Mm), NP_062018 (Rn) |
UniProtKB | P07510 (Hs), P04760 (Mm), P18916 (Rn) |
Wikipedia | CHRNG (Hs) |
Natural/Endogenous Ligands ![]() |
acetylcholine |
Tissue Distribution Comments | |
The γ-subunit mRNA is expressed in embryonic skeletal muscle of vertebrates. In postnatal animals, expression of the γ-subunit is replaced by the ε-subunit. |
Physiological Consequences of Altering Gene Expression ![]() |
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Clinically-Relevant Mutations and Pathophysiology ![]() |
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1. Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. (2004) A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. Hum. Mol. Genet., 13 (23): 2947-57. [PMID:15471888]
2. Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. (1991) Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics, 9 (2): 278-82. [PMID:2004777]
3. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I et al.. (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet., 79 (2): 303-12. [PMID:16826520]
4. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N et al.. (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet., 82 (2): 464-76. [PMID:18252226]
5. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L et al.. (2006) Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet., 79 (2): 390-5. [PMID:16826531]
6. Shibahara S, Kubo T, Perski HJ, Takahashi H, Noda M, Numa S. (1985) Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. Eur. J. Biochem., 146 (1): 15-22. [PMID:3967651]
7. Takahashi M, Kubo T, Mizoguchi A, Carlson CG, Endo K, Ohnishi K. (2002) Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors. EMBO Rep., 3 (7): 674-81. [PMID:12101101]
8. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem., 194 (2): 437-48. [PMID:1702709]