CHRND

GENE INFORMATION

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Gene name

CHRND (HGNC Symbol)

Synonyms

ACHRD

Description

cholinergic receptor, nicotinic, delta (muscle) (HGNC Symbol)

Entrez gene summary

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]

Chromosome

2 (Chromosome progress)

Cytoband

q37.1

Chromosome location (bp)

233390703 - 233401377

Ensembl

ENSG00000135902 (version 73.37)

Entrez gene

1144

UniProt

Q07001 (UniProt - Evidence at protein level)

neXtProt

NX_Q07001

Antibodypedia

CHRND antibodies
 

PROTEIN VIEW

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CHRND-001
 
CHRND-002
 
CHRND-003
 
CHRND-004
 
CHRND-005
 
CHRND-201
 
CHRND-202
 
CHRND-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHRND-001 ENSP00000258385
ENST00000258385
Q07001
Show all »
Show » Show » 517 58.9 Yes 4
CHRND-002 ENSP00000408819
ENST00000441621
B4DKT6
Show all »
Show » Show » 235 26.3 Yes 0
CHRND-003 ENSP00000404950
ENST00000449596
C9JJV8
Show all »
Show » Show » 172 19.6 Yes 0
CHRND-004 ENSP00000398143
ENST00000412233
F8WBS0
Show all »
Show » Show » 171 19.7 Yes 0
CHRND-005 ENSP00000410801
ENST00000446616
F8WB46
Show all »
Show » Show » 108 12.2 Yes 0
CHRND-201 ENSP00000391055
ENST00000457943
B4E3W4
Show all »
Show » Show » 323 35.5 No 3
CHRND-202 ENSP00000437740
ENST00000536614
B4DKT6
Show all »
Show » Show » 235 26.3 Yes 0
CHRND-203 ENSP00000438380
ENST00000543200
Q07001
Show all »
Show » Show » 502 57.1 Yes 4