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γ

Family: Nicotinic acetylcholine receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Physiological Consequences of Altering Gene Expression
Clinically-Relevant Mutations and Pathophysiology
References
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 517 2q33-q34 CHRNG cholinergic receptor, nicotinic, gamma (muscle) 6
Mouse 4 519 1 D Chrng cholinergic receptor, nicotinic, gamma polypeptide 2
Rat 4 519 9q35 Chrng cholinergic receptor, nicotinic, gamma (muscle) 8
Previous and Unofficial Names
ACHRG
cholinergic receptor, nicotinic, gamma
acetylcholine receptor, nicotinic, gamma (muscle)
AChR gamma subunit
acetylcholine receptor subunit gamma
cholinergic receptor, nicotinic, gamma polypeptide
Achr-3
Acrg
Database Links
ChEMBL Target 100150 (Mm)
Ensembl ENSG00000196811 (Hs), ENSMUSG00000026253 (Mm), ENSRNOG00000019602 (Rn)
Entrez Gene 1146 (Hs), 11449 (Mm), 25753 (Rn)
GeneCards CHRNG (Hs)
GenitoUrinary Development Molecular Anatomy Project Chrng (Mm)
HomoloGene 3810
Human Protein Reference Database 00009 (Hs)
InterPro P07510 (Hs), P04760 (Mm), P18916 (Rn)
KEGG Gene hsa:1146 (Hs), mmu:11449 (Mm), rno:25753 (Rn)
OMIM 100730 (Hs)
Orphanet Gene ORPHA119428 (Hs)
PharmGKB Gene PA26499 (Hs)
PhosphoSitePlus P07510 (Hs), P04760 (Mm)
Protein Ontology (PRO) PRO:000005468 (Hs)
RefSeq Nucleotide NM_005199 (Hs), NM_009604 (Mm), NM_019145 (Rn)
RefSeq Protein NP_005190 (Hs), NP_033734 (Mm), NP_062018 (Rn)
TreeFam ENSG00000196811 (Hs), ENSMUSG00000026253 (Mm), ENSRNOG00000019602 (Rn)
UniGene Hs. 248101 (Hs)
UniProt P07510 (Hs), P04760 (Mm), P18916 (Rn)
Wikipedia γ
Nicotinic acetylcholine receptors
Search for 3D structures on the PDB
Search by keyword: Nicotinic acetylcholine receptors γ Search by accession number: P04760, P18916, P07510
Natural/Endogenous Ligand(s)
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
Homozygous mice, if born alive, survive for two days. Mice have abnormal neuromuscular synapses and lack spontaneous neuromuscular action potentials generated from minature end-plate potentials.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene knockout
References:  7
Mice with an ε-subunit null mutation associated with the human AChR deficiency syndrome die between 10 and 14 weeks after birth. However, mice with the ε null mutation but which also consitutively express the human γ-subunit survive into adult life. Cossins et al. 2004
Species:  Mouse
Tissue:  in vivo
Technique:  Knock-in
References:  1
Clinically-Relevant Mutations and Pathophysiology
Disease:  Multiple pterygium syndrome
OMIM:  253290
Orphanet:  33108
References:  5
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift Human multiple 5
Missense Human multiple 5
Disease:  Escobar syndrome
OMIM:  265000
Orphanet:  2990
References:  3
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift Human multiple 3
Missense Human multiple 3
Disease:  Fetal akinesia deformation sequence disorders
OMIM:  100730
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human multiple 4

REFERENCES

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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]

To cite this database page, please use the following:

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: γ. Last modified on 19/01/2012. Accessed on 21/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=475.


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