CHRND cholinergic receptor nicotinic delta subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRNDprovided by HGNC
Official Full Name: cholinergic receptor nicotinic delta subunitprovided by HGNC
Primary source: HGNC:HGNC:1965
See related: Ensembl:ENSG00000135902 MIM:100720; AllianceGenome:HGNC:1965
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232526160..232536664)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (233012979..233023446)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233390870..233401374)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
Title: CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene
Title: [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality.
Title: Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional.
Title: A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.
These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
Title: Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.
Title: Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Results describe the effects of a point mutation in the AChR delta subunit from a congenital myasthenia patient.
Title: Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal
Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 3A MedGen: C4225372 OMIM: 616321 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 3B MedGen: C4225371 OMIM: 616322 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 3C MedGen: C4225370 OMIM: 616323 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Lethal multiple pterygium syndrome MedGen: C1854678 OMIM: 253290 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481090

GDB:439020 (e-PCR)
- UniSTS:157287

D2S2727 (e-PCR)
- UniSTS:51961

NoName (e-PCR)
- UniSTS:483067

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine binding	IEA Inferred from Electronic Annotation more info
enables acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to acetylcholine-gated monoatomic cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetylcholine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in acetylcholine receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, cholinergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of acetylcholine-gated channel complex	ISO Inferred from Sequence Orthology more info
part_of acetylcholine-gated channel complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acetylcholine receptor subunit delta

Names: acetylcholine receptor, nicotinic, delta (muscle); cholinergic receptor, nicotinic delta; cholinergic receptor, nicotinic, delta (muscle); cholinergic receptor, nicotinic, delta polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008028.1 RefSeqGene

Range

4949..15453

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000751.3 → NP_000742.1 acetylcholine receptor subunit delta isoform 1 precursor

See identical proteins and their annotated locations for NP_000742.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC092165, AK300109, X55019

Consensus CDS

CCDS2494.1

UniProtKB/Swiss-Prot

A8K661, B4DT92, Q07001, Q52LH4

Related

ENSP00000258385.3, ENST00000258385.8

Conserved Domains (2) summary

pfam02931
Location:25 → 246

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:253 → 489

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001256657.2 → NP_001243586.1 acetylcholine receptor subunit delta isoform 2 precursor

See identical proteins and their annotated locations for NP_001243586.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC092165, AK300109, X55019

Consensus CDS

CCDS58754.1

UniProtKB/Swiss-Prot

Q07001

Related

ENSP00000438380.1, ENST00000543200.5

Conserved Domains (3) summary

TIGR00860
Location:23 → 461

LIC; Cation transporter family protein

pfam02931
Location:25 → 231

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:238 → 474

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001311195.2 → NP_001298124.1 acetylcholine receptor subunit delta isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate internal exons compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC092165, AK300109, AK304890

UniProtKB/TrEMBL

B4E3W4

Conserved Domains (1) summary

pfam02932
Location:76 → 295

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001311196.2 → NP_001298125.1 acetylcholine receptor subunit delta isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate internal splice junction compared to variant 1. This difference causes translation initiation at a downstream start codon and results in an isoform (4) with a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC092165, AK300109, CD013895

UniProtKB/Swiss-Prot

Q07001

Conserved Domains (2) summary

pfam02931
Location:19 → 145

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:152 → 388

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region