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... See more...

Aliases for CHRND Gene

Aliases for CHRND Gene

  • Cholinergic Receptor Nicotinic Delta Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Delta (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Delta (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Delta 2 3
  • Acetylcholine Receptor Subunit Delta 3 4
  • ACHRD 3 4
  • Cholinergic Receptor, Nicotinic, Delta Polypeptide 3
  • Cholinergic Receptor, Nicotinic, Delta 2
  • CMS2A 3
  • CMS3A 3
  • CMS3B 3
  • CMS3C 3
  • FCCMS 3
  • SCCMS 3

External Ids for CHRND Gene

Previous HGNC Symbols for CHRND Gene

  • ACHRD

Previous GeneCards Identifiers for CHRND Gene

  • GC02P231447
  • GC02P232120
  • GC02P233354
  • GC02P233593
  • GC02P233216
  • GC02P233099
  • GC02P233390
  • GC02P225241

Summaries for CHRND Gene

Entrez Gene Summary for CHRND Gene

  • 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]

GeneCards Summary for CHRND Gene

CHRND (Cholinergic Receptor Nicotinic Delta Subunit) is a Protein Coding gene. Diseases associated with CHRND include Multiple Pterygium Syndrome, Lethal Type and Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot Summary for CHRND Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRND Gene

Additional gene information for CHRND Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRND Gene

Genomics for CHRND Gene

GeneHancer (GH) Regulatory Elements for CHRND Gene

Promoters and enhancers for CHRND Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J232523 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 511.4 +0.7 686 6.2 CTCF GABPA ZBTB26 EZH2 DEAF1 PCBP1 SMC3 SP2 ZBTB17 ZNF524 CHRND CHRNG PRSS56 TIGD1 EIF4E2 SCARNA5
GH02J232549 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 +24.7 24708 3 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 ZSCAN5C SIN3A TCF12 NRF1 TIGD1 EIF4E2 MIR5001 piR-31754 PRSS56 ENSG00000251485 CHRND SCARNA6 DIS3L2 ENSG00000261096
GH02J232521 Promoter 0.8 Ensembl 11.6 -3.8 -3792 0.4 CTCF ZIC2 GABPA REST RAD21 SMC3 HIC1 ZBTB7A NR3C1 GLIS1 PRSS56 CHRND
GH02J232566 Enhancer 0.7 Ensembl ENCODE 11.3 +42.1 42134 2.5 JUND FOS JUN POLR2A GATA1 NFE2L2 MYC EIF4E2 ENSG00000237126 CHRNG CHRND PRSS56 ECEL1 GIGYF2 NONHSAG030797.2 TIGD1
GH02J232562 Enhancer 0.5 Ensembl 10.8 +36.7 36708 0.6 USF1 ZNF316 POLR2A MAFK SPI1 CTCF RAD51 ENSG00000237126 CHRNG CHRND PRSS56 NONHSAG030797.2 EIF4E2 TIGD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRND on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRND

Top Transcription factor binding sites by QIAGEN in the CHRND gene promoter:
  • COMP1
  • ER-alpha
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • GR-alpha
  • NF-1
  • NF-1/L
  • SEF-1 (1)

Genomic Locations for CHRND Gene

Genomic Locations for CHRND Gene
chr2:232,525,993-232,536,667
(GRCh38/hg38)
Size:
10,675 bases
Orientation:
Plus strand
chr2:233,390,703-233,401,377
(GRCh37/hg19)
Size:
10,675 bases
Orientation:
Plus strand

Genomic View for CHRND Gene

Genes around CHRND on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRND Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRND Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRND Gene

Proteins for CHRND Gene

  • Protein details for CHRND Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07001-ACHD_HUMAN
    Recommended name:
    Acetylcholine receptor subunit delta
    Protein Accession:
    Q07001
    Secondary Accessions:
    • A8K661
    • B4DT92
    • Q52LH4

    Protein attributes for CHRND Gene

    Size:
    517 amino acids
    Molecular mass:
    58895 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).

    Alternative splice isoforms for CHRND Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRND Gene

Post-translational modifications for CHRND Gene

  • Glycosylation at Asn97 and Asn164
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRND Gene

Domains & Families for CHRND Gene

Gene Families for CHRND Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CHRND Gene

Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRND Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96317, Homo sapiens cholinergic receptor, nicotinic, delta polypeptide(CHRND), mRNA (A8K661_HUMAN)
  • Acetylcholine receptor subunit delta (ACHD_HUMAN)
  • cDNA FLJ56573, highly similar to Acetylcholine receptor protein subunit delta (B4DKT6_HUMAN)
  • cDNA FLJ53914, highly similar to Acetylcholine receptor protein subunit delta (B4DT92_HUMAN)
  • cDNA FLJ58460, highly similar to Acetylcholine receptor protein subunit delta (B4E3W4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07001

UniProtKB/Swiss-Prot:

ACHD_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.
genes like me logo Genes that share domains with CHRND: view

Function for CHRND Gene

Molecular function for CHRND Gene

UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,delta polypeptide

Phenotypes From GWAS Catalog for CHRND Gene

Gene Ontology (GO) - Molecular Function for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA 21873635
GO:0015276 ligand-gated ion channel activity IEA --
GO:0015464 contributes_to acetylcholine receptor activity IBA 21873635
genes like me logo Genes that share ontologies with CHRND: view
genes like me logo Genes that share phenotypes with CHRND: view

Human Phenotype Ontology for CHRND Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRND

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRND Gene

Localization for CHRND Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRND Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRND gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex TAS,IBA 21873635
genes like me logo Genes that share ontologies with CHRND: view

Pathways & Interactions for CHRND Gene

genes like me logo Genes that share pathways with CHRND: view

Gene Ontology (GO) - Biological Process for CHRND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006936 muscle contraction TAS 8872460
GO:0007165 signal transduction IBA,TAS 21873635
genes like me logo Genes that share ontologies with CHRND: view

No data available for SIGNOR curated interactions for CHRND Gene

Drugs & Compounds for CHRND Gene

(40) Drugs for CHRND Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 108
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 409
Atropine Approved, Vet_approved Pharma Antagonist MAChRs antagonist 197
Gallamine Triethiodide Approved Pharma 0
Homatropine Methylbromide Approved Pharma Muscarinic AChR antagonist 0

(38) ApexBio Compounds for CHRND Gene

Compound Action Cas Number
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzethonium Chloride 121-54-0
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Decamethonium Bromide 541-22-0
Diphemanil Methylsulfate 62-97-5
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
LY2119620 886047-22-9
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nicotine Difartrate 65-31-6
Nitenpyram 150824-47-8
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
Pentoxyverine Citrate 23142-01-0
Pilocarpine HCl 54-71-7
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
Succinylcholine Chloride Dihydrate 6101-15-1
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
genes like me logo Genes that share compounds with CHRND: view

Drug Products

Transcripts for CHRND Gene

mRNA/cDNA for CHRND Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRND

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRND Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2: -
SP3: - -
SP4: -

Relevant External Links for CHRND Gene

GeneLoc Exon Structure for
CHRND

Expression for CHRND Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRND Gene

mRNA differential expression in normal tissues according to GTEx for CHRND Gene

This gene is overexpressed in Muscle - Skeletal (x50.9).

Protein differential expression in normal tissues from HIPED for CHRND Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRND Gene



Protein tissue co-expression partners for CHRND Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRND

SOURCE GeneReport for Unigene cluster for CHRND Gene:

Hs.156289

Evidence on tissue expression from TISSUES for CHRND Gene

  • Heart(4.2)
  • Lung(4)
  • Muscle(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRND Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRND: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CHRND Gene

Orthologs for CHRND Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRND Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRND 31 30
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRND 31 30
  • 89.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRND 31 30
  • 89.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnd 17 31 30
  • 86.46 (n)
rat
(Rattus norvegicus)
Mammalia Chrnd 30
  • 86.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRND 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRND 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRND 31 30
  • 73.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRND 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnd 30
  • 67.47 (n)
Str.12223 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1119 30
zebrafish
(Danio rerio)
Actinopterygii chrnd 31 30
  • 68.95 (n)
OneToOne
wufa01e01 30
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 31
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lev-1 31 32
  • 34 (a)
ManyToMany
unc-29 31 32
  • 34 (a)
ManyToMany
acr-3 31
  • 33 (a)
ManyToMany
acr-2 31 32
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for CHRND was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRND Gene

ENSEMBL:
Gene Tree for CHRND (if available)
TreeFam:
Gene Tree for CHRND (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRND: view image

Paralogs for CHRND Gene

(17) SIMAP similar genes for CHRND Gene using alignment to 6 proteins:

  • ACHD_HUMAN
  • B4DKT6_HUMAN
  • B4E3W4_HUMAN
  • C9JJV8_HUMAN
  • F8WB46_HUMAN
  • F8WBS0_HUMAN
genes like me logo Genes that share paralogs with CHRND: view

Variants for CHRND Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRND Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
645129 Likely Pathogenic: Lethal multiple pterygium syndrome 232,531,350(+) A/C SPLICE_ACCEPTOR_VARIANT
646839 Uncertain Significance: Lethal multiple pterygium syndrome 232,531,661(+) G/T INTRON_VARIANT
648856 Uncertain Significance: Lethal multiple pterygium syndrome 232,535,238(+) T/C MISSENSE_VARIANT
650661 Uncertain Significance: Lethal multiple pterygium syndrome 232,526,604(+) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
657502 Pathogenic: Lethal multiple pterygium syndrome 232,528,872(+) T/TATAC FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CHRND Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRND Gene

Variant ID Type Subtype PubMed ID
esv2674530 CNV deletion 23128226
esv2721631 CNV deletion 23290073
esv3594656 CNV loss 21293372
nsv1073020 CNV deletion 25765185
nsv3211 CNV insertion 18451855
nsv3212 CNV deletion 18451855
nsv527789 CNV loss 19592680
nsv821918 CNV gain 20364138
nsv953202 CNV deletion 24416366

Variation tolerance for CHRND Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRND Gene

Human Gene Mutation Database (HGMD)
CHRND
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRND

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRND Gene

Disorders for CHRND Gene

MalaCards: The human disease database

(22) MalaCards diseases for CHRND Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

ACHD_HUMAN
  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:11782989, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:11435464, ECO:0000269 PubMed:12499478, ECO:0000269 PubMed:18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM:616323]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269 PubMed:16916845, ECO:0000269 PubMed:18398509}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRND

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for CHRND Gene

  1. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. (PMID: 14735155) Giraud M … Garchon HJ (Genes and immunity 2004) 3 23 41 54
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41 54
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  4. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone NL … Bierut LJ (Genes, brain, and behavior 2010) 3 41 54
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54

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