Fields »

GENE AND PROTEIN SUMMARY

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Gene name

CHRND

Description

cholinergic receptor, nicotinic, delta (muscle)

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

8 in total
3 with predicted TM region
7 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Not detected

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Low

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Not detected

-

-

U-2 OS Bone Not detected

-

-

U-251 MG Brain Not detected

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-

ANTIBODY SUMMARY

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Pending antibodies