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FLASH GENE

Symbol

CHRND

contributors: mct - updated : 12-01-2016

HGNC name	cholinergic receptor, nicotinic, delta
HGNC id	1965

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS3A congenital myasthenic syndrome, type III A MPTLT4 multiple pterygium syndrome, lethal type 4
Location	2q37.1      Physical location : 233.390.921 - 233.400.204
Synonym name	acetylcholine receptor, delta polypeptide
Synonym symbol(s)	ACHRD, CMS2A, FCCMS, SCCMS

DNA

TYPE	functioning gene
STRUCTURE	10.50 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000751 12 - 2963 NP_000742 - 517 - 1990 2221824 NM_001256657 11 - 2918 NP_001243586 - 502 - 1990 2221824 NM_001311195 - - 2652 NP_001298124 - 323 - 1990 2221824 NM_001311196 - - 2931 NP_001298125 - 416 - 1990 2221824

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large N terminal extracellular domain
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore

HOMOLOGY

Homologene

FAMILY

cholinergic receptor family, ligand-gated ionic channel (tc 1.a.9) family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane,junction
text	postsynaptic membrane

basic FUNCTION	after binding acetylcholine, involved in opening of an ion-conducting channel across the plasma membrane (through an extensive change in conformation that affects all
	subunits)
	having a special role in AChR-rapsyn interactions
	CHRNB/CHRND subunit cytoplasmic loops regulate Golgi to surface trafficking
	CHRND is likely contained in synapses of both slow and fast muscle fibers

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains

INTERACTION

DNA

RNA

small molecule

protein

RAS/RAF/MEK/ERK pathway may be involved in bone marrow-derived mesenchymal stem cells (BMSCs) -induced expression of CHRND

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS3A , MPTLT4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS