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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
External Ids for CHRND Gene
- HGNC: 1965
- Entrez Gene: 1144
- Ensembl: ENSG00000135902
- OMIM: 100720
- UniProtKB: Q07001
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
-
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.
Additional gene information for CHRND Gene
- Monarch Initiative
- Search for CHRND at DataMed
- Search for CHRND at HumanCyc
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
- 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:
-
- 2q37.1 by HGNC
- 2q37.1 by Entrez Gene
- 2q37.1 by Ensembl
CHRND Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for CHRND Gene
Post-translational modifications for CHRND Gene
Other Protein References for CHRND Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-CHRND (aa 24-130) polyclonal antibody
- Creative Biolabs Recombinant Mouse Anti-Human CHRND Antibody
-
Custom Antibody ServicesOriGene Antibodies for CHRND
- Novus Biologicals Antibodies for CHRND
-
Abcam antibodies for CHRND
- Invitrogen Antibodies for CHRND (AFLGC-CHRND)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHRND
Protein Products
- Creative Biomart Recombinant Human CHRND
-
OriGene Purified Proteins for CHRND
- Search Origene for MassSpec and Protein Over-expression Lysates for CHRND
- Origene Custom Protein Services for CHRND
- antibodies-online: Show 7 available CHRND Proteins ranked by validation data
- Compare Top CHRND Proteins
-
Quality Products:
-
Abcam proteins for CHRND
Assay Products
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
Q07001UniProtKB/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.
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
| 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 |
Phenotypes for CHRND Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CHRND - Select products 50% OFF >
- * CHRND CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CHRND
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHRND
- genomics-online: gRNA clones - Search results for available CHRND gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRND
miRNA for CHRND Gene
- miRTarBase miRNAs that target CHRND
-
- mmu-mir-466l-5p (MIRT579119)
- mmu-mir-466k (MIRT579120)
- mmu-mir-466i-5p (MIRT579121)
- mmu-mir-466d-5p (MIRT579122)
- mmu-mir-466n-5p (MIRT579123)
- mmu-mir-466m-5p (MIRT579124)
- mmu-mir-669m-5p (MIRT579125)
- mmu-mir-466j (MIRT579126)
- mmu-mir-466h-5p (MIRT579127)
- mmu-mir-19a-3p (MIRT579128)
- mmu-mir-19b-3p (MIRT579129)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHRND
- Browse OriGene Inhibitory RNA Products For CHRND
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRND
- genomics-online: shRNA clones - Search results for available CHRND gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CHRND - Select products 50% OFF >
- * CHRND as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CHRND
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHRND
- genomics-online: cdna clones - Search results for available CHRND gene related products
- orf clones - Search results for available CHRND gene related products
Cell Line Products
-
Horizon Cell Lines for CHRND
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| cytosol | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Plasma membrane (3)
- Cytosol (2)
- Nucleoplasm (2)
| 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 |
Pathways & Interactions for CHRND Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Postsynaptic nicotinic acetylcholine receptors | ||
| 2 | Transmission across Chemical Synapses |
.62
|
|
| 3 | Peptide ligand-binding receptors | ||
| 4 | Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
|
Pathways by source for CHRND Gene
8 Reactome pathways for CHRND Gene
1 PharmGKB pathway for CHRND Gene
1 KEGG pathway for CHRND Gene
2 Qiagen pathways for CHRND Gene
- eNOS Signaling
- Intracellular Calcium Signaling
Interacting Proteins for CHRND Gene
GPS-Prot Interaction Network for CHRND
| 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 |
No data available for SIGNOR curated interactions for CHRND Gene
Drugs & Compounds for CHRND Gene
| 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 |
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 :
-
- ENST00000258385 2962 bps (ENST00000258385.8)
- ENST00000412233 735 bps (ENST00000412233.5)
- ENST00000441621 3022 bps (ENST00000441621.6)
- ENST00000446616 1580 bps (ENST00000446616.1)
- ENST00000449596 572 bps (ENST00000449596.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CHRND - Select products 50% OFF >
- * CHRND CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CHRND
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHRND
- genomics-online: gRNA clones - Search results for available CHRND gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRND
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHRND
- Browse OriGene Inhibitory RNA Products For CHRND
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRND
- genomics-online: shRNA clones - Search results for available CHRND gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CHRND - Select products 50% OFF >
- * CHRND as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CHRND
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHRND
- genomics-online: cdna clones - Search results for available CHRND gene related products
- orf clones - Search results for available CHRND gene related products
| 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 differential expression in normal tissues according to GTEx for CHRND Gene
This gene is overexpressed in Muscle - Skeletal (x50.9).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRND
SOURCE GeneReport for Unigene cluster for CHRND Gene:
Hs.156289Evidence 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
Primer Products
-
OriGene qPCR primer pairs for CHRND
-
OriGene qPCR primer pairs and template standards for CHRND
- genomics-online: primer clones - Search results for available CHRND gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHRND 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CHRND 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CHRND 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Chrnd 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chrnd 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CHRND 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CHRND 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHRND 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CHRND 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chrnd 30 |
|
||
| Str.12223 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1119 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chrnd 31 30 |
|
OneToOne | |
| wufa01e01 30 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | nAcRbeta-64B 31 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lev-1 31 32 |
|
ManyToMany | |
| unc-29 31 32 |
|
ManyToMany | |||
| acr-3 31 |
|
ManyToMany | |||
| acr-2 31 32 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Paralogs for CHRND Gene
- CHRNG 5
- CHRNE 5
- CHRNB2 5
- CHRNB1 5
- CHRNB4 5
- CHRNA3 5
- CHRNA4 5
- CHRNA2 5
- CHRNA6 5
- CHRNB3 5
- CHRNA1 5
- CHRNA7 5
- CHRNA5 5
- CHRNA10 5
- CHRNA9 5
- CHRFAM7A 5
- HTR3A 5
- HTR3C 5
- HTR3B 5
- HTR3E 5
- GABRA4 5
- GABRA1 5
- GABRA6 5
- HTR3D 5
- GABRA3 5
- GABRE 5
- GABRA5 5
- GABRD 5
- GABRR1 5
- GABRG1 5
- GABRG2 5
- GABRP 5
- GABRB1 5
- GABRR2 5
- GABRG3 5
- GLRA3 5
- GABRB2 5
- GABRA2 5
- GLRA2 5
- GLRA1 5
- GABRB3 5
- ZACN 5
- GABRQ 5
- GLRB 5
- GLRA4 5
- GABRR3 5
(17) SIMAP similar genes for CHRND Gene using alignment to 6 proteins:
- ACHD_HUMAN
- B4DKT6_HUMAN
- B4E3W4_HUMAN
- C9JJV8_HUMAN
- F8WB46_HUMAN
- F8WBS0_HUMAN
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRND Gene
Disorders for CHRND Gene
(22) MalaCards diseases for CHRND Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
Search CHRND in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for CHRND Gene
Publications for CHRND Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for CHRND Gene
- Custom Antibody ServicesOriGene Antibodies for CHRND
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Sources for CHRND Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (68) Reactome
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- (70) DISEASES
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