Aliases for CHRNA4 Gene
Aliases for CHRNA4 Gene
- Cholinergic Receptor Nicotinic Alpha 4 Subunit 2 3 5
- Cholinergic Receptor, Nicotinic, Alpha Polypeptide 4 2 3
- Cholinergic Receptor, Nicotinic, Alpha 4 (Neuronal) 2 3
- Cholinergic Receptor, Nicotinic Alpha 4 2 3
- NACRA4 3 4
- Neuronal Nicotinic Acetylcholine Receptor Alpha-4 Subunit 3
- Acetylcholine Receptor, Nicotinic, Alpha 4 (Neuronal) 2
External Ids for CHRNA4 Gene
- HGNC: 1958
- Entrez Gene: 1137
- Ensembl: ENSG00000101204
- OMIM: 118504
- UniProtKB: P43681
Previous HGNC Symbols for CHRNA4 Gene
- EBN
- EBN1
Previous GeneCards Identifiers for CHRNA4 Gene
- GC20U990005
- GC20M061813
- GC20M062655
- GC20M062702
- GC20M061446
- GC20M061974
- GC20M058700
Summaries for CHRNA4 Gene
-
This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
GeneCards Summary for CHRNA4 Gene
CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a Protein Coding gene. Diseases associated with CHRNA4 include Epilepsy, Nocturnal Frontal Lobe, 1 and Nicotine Dependence, Protection Against. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Activation of Nicotinic Acetylcholine Receptors. GO annotations related to this gene include ion channel activity. An important paralog of this gene is CHRNA2.
UniProtKB/Swiss-Prot for CHRNA4 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 permeable to sodium ions.
-
Nicotinic alpha4beta2 receptors have high affinity for nicotine and account for >90% of [3H]-nicotine binding to brain tissues. A stoichiometry of (alpha4)2(beta2)3 has been proposed, generating two agonist binding sites consistent with the model of the muscle nAChR.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA4 Gene
Genomics for CHRNA4 Gene
Regulatory Elements for CHRNA4 Gene
Enhancers for CHRNA4 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CHRNA4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CHRNA4 gene promoter:
Regulatory Element Products
Genomic Location for CHRNA4 Gene
- Chromosome:
- 20
- Start:
- 63,343,223 bp from pter
- End:
- 63,378,401 bp from pter
- Size:
- 35,179 bases
- Orientation:
- Minus strand
Genomic View for CHRNA4 Gene
Genes around CHRNA4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.33 by Ensembl
- 20q13.33 by Entrez Gene
- 20q13.33 by HGNC
CHRNA4 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 CHRNA4 Gene
Proteins for CHRNA4 Gene
-
Protein details for CHRNA4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P43681-ACHA4_HUMAN
- Recommended name:
- Neuronal acetylcholine receptor subunit alpha-4
- Protein Accession:
- P43681
- Q4JGR7
- Q4VAQ5
- Q4VAQ6
Protein attributes for CHRNA4 Gene
- Size:
- 627 amino acids
- Molecular mass:
- 69957 Da
- Quaternary structure:
-
- Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers (PubMed:22361591). Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019).
Protein Expression for CHRNA4 Gene
Post-translational modifications for CHRNA4 Gene
Other Protein References for CHRNA4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CHRNA4
- Novus Biologicals Antibodies for CHRNA4
-
Abcam antibodies for CHRNA4
-
Cloud-Clone Corp. Antibodies for CHRNA4
- Invitrogen Antibodies for CHRNA4
- antibodies-online Antibodies for CHRNA4: See all 58
- GeneTex CHRNA4 antibody for CHRNA4
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHRNA4
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CHRNA4
- Origene Custom Protein Services for CHRNA4
-
Cloud-Clone Corp. Proteins for CHRNA4
- Search GeneTex for Proteins for CHRNA4
-
Abcam proteins for CHRNA4
Assay Products
- antibodies-online Kits for CHRNA4: See all 3
No data available for DME Specific Peptides for CHRNA4 Gene
Domains & Families for CHRNA4 Gene
Gene Families for CHRNA4 Gene
- HGNC:
- IUPHAR :
Protein Domains for CHRNA4 Gene
Suggested Antigen Peptide Sequences for CHRNA4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P43681UniProtKB/Swiss-Prot:
ACHA4_HUMAN :- Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub-subfamily.
- Family:
-
- Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub-subfamily.
Function for CHRNA4 Gene
Molecular function for CHRNA4 Gene
- GENATLAS Biochemistry:
- cholinergic receptor,nicotinic,alpha 4 polypeptide,neuronal
- 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 permeable to sodium ions.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 27344019 |
| GO:0015276 | ligand-gated ion channel activity | TAS | 20438829 |
| GO:0015464 | acetylcholine receptor activity | IDA | 8906617 |
Phenotypes for CHRNA4 Gene
- MGI mutant phenotypes for CHRNA4:
- inferred from 12 alleles
- GenomeRNAi human phenotypes for CHRNA4:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Weakly decreased NFAT1-GFP nuclear translocation
- Upregulation of Wnt pathway
Animal Models for CHRNA4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHRNA4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CHRNA4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRNA4 gene
- Search ViGene Biosciences for CHRNA4
CRISPR Products
-
OriGene CRISPR knockouts for CHRNA4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRNA4
- GenScript: Design CRISPR guide RNA sequences for CHRNA4
miRNA for CHRNA4 Gene
- miRTarBase miRNAs that target CHRNA4
miRNA Products
- Search ViGene Biosciences for CHRNA4
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRNA4
- Browse OriGene Inhibitory RNA Products For CHRNA4
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRNA4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHRNA4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRNA4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for CHRNA4 (Nicotinic Acetylcholine R alpha 4/CHRNA4)
Cell Line Products
-
Horizon Cell Lines for CHRNA4
-
ViGene Biosciences adenoviral particle packaged cDNA for CHRNA4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CHRNA4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRNA4 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNA4 Gene
Localization for CHRNA4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHRNA4 Gene
- Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell membrane; Lipid-anchor.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005892 | acetylcholine-gated channel complex | IDA | 8906617 |
| GO:0009897 | external side of plasma membrane | ISS | -- |
| GO:0016020 | membrane | ISS | -- |
| GO:0016021 | integral component of membrane | NAS | 8906617 |
Pathways & Interactions for CHRNA4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of Nicotinic Acetylcholine Receptors | ||
| 2 | Transmission across Chemical Synapses |
.62
|
|
| 3 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
| 4 | Circadian entrainment | ||
| 5 | Peptide ligand-binding receptors | ||
Pathways by source for CHRNA4 Gene
2 BioSystems pathways for CHRNA4 Gene
10 Reactome pathways for CHRNA4 Gene
1 PharmGKB pathway for CHRNA4 Gene
3 KEGG pathways for CHRNA4 Gene
2 Qiagen pathways for CHRNA4 Gene
Interacting Proteins for CHRNA4 Gene
Selected Interacting proteins:
P43681-ACHA4_HUMAN
ENSP00000359285
for CHRNA4 Gene via
MINT
STRING
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001508 | action potential | ISS | -- |
| GO:0001666 | response to hypoxia | IDA | 12189247 |
| GO:0006281 | DNA repair | IMP | 16332175 |
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | NAS | 8906617 |
No data available for SIGNOR curated interactions for CHRNA4 Gene
Drugs & Compounds for CHRNA4 Gene
(134) Drugs for CHRNA4 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Varenicline | Approved, Investigational | Pharma | agonist, Target, partial agonist | α4β2 nAChRs antagonist | 273 | |
| Nicotine | Approved | Pharma | Antagonist, antagonist, Target, agonist | 1103 | ||
| Ethanol | Approved | Pharma | Target | 2137 | ||
| Butabarbital | Approved, Illicit | Pharma | antagonist, Target | 0 | ||
| Butalbital | Approved, Illicit | Pharma | antagonist, Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| TC-2403 |
|
Full agonist, Agonist |
|
|||
| (-)-Nicotine ditartrate |
|
65-31-6 |
|
|
||
| A 85380 dihydrochloride |
|
174740-86-4 |
|
|
||
| NS 9283 |
|
913830-15-6 |
|
|
(5) Tocris Compounds for CHRNA4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (-)-Nicotine ditartrate | Prototypical nAChR agonist | 65-31-6 |
| A 85380 dihydrochloride | High affinity and selective alpha4beta2 agonist | 174740-86-4 |
| Desformylflustrabromine hydrochloride | Positive allosteric modulator of alpha4beta2; also muscle-type nAChR inhibitor | 951322-11-5 |
| NS 9283 | Positive allosteric modulator of alpha4beta2 | 913830-15-6 |
| Varenicline tartrate | Orally active, subtype-selective alpha4beta2 partial agonist | 375815-87-5 |
(88) ApexBio Compounds for CHRNA4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (-)-Lobeline hydrochloride | 134-63-4 | |
| (+)-Anabasine hydrochloride | 53912-89-3 | |
| (+)-Tubocurarine chloride | 57-94-3 | |
| (±)-Anatoxin A fumarate | 1219922-30-1 | |
| (±)-Epibatidine | dopamine receptor antagonist | 148152-66-3 |
| 1-Acetyl-4-methylpiperazine hydrochloride | 144205-68-5 | |
| 3-Bromocytisine | 207390-14-5 | |
| 3-pyr-Cytisine | α4β2 receptors agonist | 948027-43-8 |
| 4-Acetyl-1,1-dimethylpiperazinium iodide | 75667-84-4 | |
| 5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative | 213766-21-3 | |
| Acetylcholine Chloride | Major transmitter at many nervous sites | 60-31-1 |
| Acetylcysteine | Antioxidant;mucolytic agent | 616-91-1 |
| Adiphenine HCl | 50-42-0 | |
| Atropine | MAChRs antagonist | 5908-99-6 |
| Benzoquinonium dibromide | inhibitor of AChR and ganglion | 311-09-1 |
| Bethanechol chloride | Muscarinic receptor agonist | 590-63-6 |
| bPiDDB | 525596-66-1 | |
| Carbamoylcholine chloride | 51-83-2 | |
| Catestatin | 142211-96-9 | |
| Catharanthine | 2468-21-5 | |
| CCMI | 917837-54-8 | |
| Chlorisondamine diiodide | 96750-66-2 | |
| Decamethonium Bromide | 541-22-0 | |
| Desformylflustrabromine hydrochloride | 951322-11-5 | |
| Dihydro-β-erythroidine hydrobromide | antagonist of nAChRs | 29734-68-7 |
| Diphemanil Methylsulfate | 62-97-5 | |
| DMAB-anabaseine dihydrochloride | 154149-38-9 | |
| EVP-6124 | NAChRs agonist | 550999-75-2 |
| Flavoxate hydrochloride | 3717-88-2 | |
| Galanthamine HBr | Acetylcholinesterase inhibitor | 1953-04-4 |
| Gallamine Triethiodide | 65-29-2 | |
| GTS 21 dihydrochloride | nAChRs agonist, novel | 156223-05-1 |
| 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 | |
| Ivermectin | NAChR/purinergic P2X4 receptor modulator | 70288-86-7 |
| Ivermectin B1a-d2 | ||
| LX-1031 | TPH inhibitor | 945976-76-1 |
| LY 2087101 | 913186-74-0 | |
| LY2119620 | 886047-22-9 | |
| Mecamylamine hydrochloride | 826-39-1 | |
| Methscopolamine | Muscarinic acetylcholine receptor blocker | 155-41-9 |
| Methyllycaconitine citrate | 112825-05-5 | |
| MG 624 | 77257-42-2 | |
| Neostigmine Bromide | Cholinesterase inhibitor | 114-80-7 |
| Nitenpyram | 150824-47-8 | |
| NS 1738 | 501684-93-1 | |
| 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 |
| PHA 543613 hydrochloride | 478149-53-0 | |
| PHA 568487 | 527680-57-5 | |
| PNU 282987 | 123464-89-1 | |
| PNU-120596 | α7 nAChR modulator,positive allosteric | 501925-31-1 |
| Pregnenolone | 145-13-1 | |
| Rivastigmine Tartrate | 129101-54-8 | |
| RJR 2429 dihydrochloride | 1021418-53-0 | |
| RJR-2403 | Nicotinic receptor agonist,highly selective | 15585-43-0 |
| RJR-2403 hemioxalate | Neuronal nicotinic receptor agonist | |
| RJR-2403 oxalate | Nicotinic receptor agonist | 220662-95-3 |
| Rocuronium Bromide | TGF-βR I kinase inhibitor | 119302-91-9 |
| RuBi-Nicotine | 1256362-30-7 | |
| S 24795 | 304679-75-2 | |
| Sazetidine A dihydrochloride | 1197329-42-2 | |
| SEN 12333 | 874450-44-9 | |
| SIB 1553A hydrochloride | 191611-89-9 | |
| SR 16584 | 1150153-86-8 | |
| Succinylcholine Chloride Dihydrate | 6101-15-1 | |
| TC 1698 dihydrochloride | 787587-06-8 | |
| TC 2559 difumarate | 212332-35-9 | |
| Tiotropium Bromide hydrate | Muscarinic antagonist | 139404-48-1 |
| TMPH hydrochloride | 849461-91-2 | |
| TQS | 353483-92-8 | |
| Tropicamide | Antimuscarinic drug | 1508-75-4 |
| UB 165 fumarate | 200432-86-6 | |
| Varenicline | α4β2 nAChRs antagonist | 249296-44-4 |
| Varenicline Hydrochloride | α4β2 nicotinic receptor agonist | 230615-23-3 |
| Varenicline Tartrate | Subtype-selective agonist of α4β2 nicotinic receptors,orally active | 375815-87-5 |
| vinblastine | 865-21-4 | |
| α-Bungarotoxin | 11032-79-4 | |
| α-Conotoxin AuIB | 216299-21-7 | |
| α-Conotoxin EI | 170663-33-9 | |
| α-Conotoxin PnIA | 705300-84-1 |
Drug Products
- ApexBio compounds for CHRNA4
Transcripts for CHRNA4 Gene
mRNA/cDNA for CHRNA4 Gene
- (5) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (30) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CHRNA4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHRNA4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRNA4
- GenScript: Design CRISPR guide RNA sequences for CHRNA4
miRNA Products
- Search ViGene Biosciences for CHRNA4
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRNA4
- Browse OriGene Inhibitory RNA Products For CHRNA4
-
ViGene Biosciences ready-to-package AAV shRNAs for CHRNA4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHRNA4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRNA4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for CHRNA4 (Nicotinic Acetylcholine R alpha 4/CHRNA4)
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | - |
Expression for CHRNA4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for CHRNA4 Gene
This gene is overexpressed in Liver (x18.5) and Brain - Substantia nigra (x4.3).
This gene is overexpressed in Heart (59.6) and Adipocyte (9.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNA4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CHRNA4 Gene:
CHRNA4SOURCE GeneReport for Unigene cluster for CHRNA4 Gene:
Hs.10734Evidence on tissue expression from TISSUES for CHRNA4 Gene
- Nervous system(4.8)
- Muscle(3)
- Adrenal gland(2.4)
- Kidney(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA4 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- head
Primer Products
-
OriGene qPCR primer pairs for CHRNA4
No data available for mRNA Expression by UniProt/SwissProt for CHRNA4 Gene
Orthologs for CHRNA4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHRNA4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CHRNA4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CHRNA4 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chrna4 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Chrna4 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CHRNA4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CHRNA4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHRNA4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CHRNA4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chrna4 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC563696 34 |
|
||
| chrna4b 35 35 |
|
OneToMany | |||
| CHRNA4 (3 of 3) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | nAcRbeta-64B 34 |
|
||
| nAcRalpha-96Aa 36 |
|
|
|||
| nAcRalpha-96Ab 36 |
|
|
|||
| nAcRalpha-7E 36 |
|
|
|||
| nAcRbgr-64B 36 |
|
|
|||
| nAcRbgr-96A 36 |
|
|
|||
| nAcRalpha-30D 36 |
|
|
|||
| nAcRbgr-21C 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000966 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | unc-63 36 |
|
|
|
| unc-38 36 |
|
|
|||
| acr-3 36 |
|
|
|||
| lev-1 36 |
|
|
|||
| acr-12 36 |
|
|
|||
| acr-2 36 |
|
|
|||
| unc-29 36 |
|
|
|||
| acr-15 36 |
|
|
|||
| acr-7 36 |
|
|
|||
| acr-8 36 |
|
|
|||
| acr-10 36 |
|
|
|||
| acr-13 36 |
|
|
|||
| ZK973.5 36 |
|
|
|||
| acr-14 36 |
|
|
|||
| acr-17 36 |
|
|
|||
| deg-3 36 |
|
|
|||
| Y73F8A.30 36 |
|
|
|||
| acr-23 36 |
|
|
|||
| acr-18 36 |
|
|
|||
| acr-22 36 |
|
|
|||
| acr-5 36 |
|
|
|||
| Y44A6E.1 36 |
|
|
|||
| C04C3.2 36 |
|
|
|||
| Y57G11C.2 36 |
|
|
- Species where no ortholog for CHRNA4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for CHRNA4 Gene
Paralogs for CHRNA4 Gene
(17) SIMAP similar genes for CHRNA4 Gene using alignment to 7 proteins:
Variants for CHRNA4 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121909580 | Pathogenic, Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] | 63,350,572(-) | CATCT(C/T)CGTGC | nc-transcript-variant, reference, missense | |
| VAR_017531 | Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] | ||||
| rs281865066 | Pathogenic | 63,350,533(-) | CATCA(C/T)CGAGA | nc-transcript-variant, reference, missense | |
| rs281865067 | Pathogenic | 63,350,538(-) | TGCTG(-/GCT)CTCAT | nc-transcript-variant, cds-indel | |
| rs281865068 | Pathogenic | 63,350,404(-) | GCCAC(A/G)CACGC | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv678e201 | CNV | deletion | 23290073 |
| esv1058695 | CNV | insertion | 17803354 |
| esv1299744 | CNV | insertion | 17803354 |
| esv1436907 | CNV | insertion | 17803354 |
| esv1443132 | CNV | insertion | 17803354 |
| esv1955955 | CNV | deletion | 18987734 |
| esv2722910 | CNV | deletion | 23290073 |
| esv2722912 | CNV | deletion | 23290073 |
| esv2722913 | CNV | deletion | 23290073 |
| esv3557362 | CNV | deletion | 23714750 |
| esv3964 | CNV | loss | 18987735 |
| nsv1116881 | CNV | deletion | 24896259 |
| nsv1125932 | CNV | deletion | 24896259 |
| nsv1144943 | CNV | deletion | 24896259 |
| nsv180574 | CNV | insertion | 16902084 |
| nsv473137 | CNV | novel sequence insertion | 20440878 |
| nsv828799 | CNV | gain | 20364138 |
| nsv953306 | CNV | deletion | 24416366 |
| nsv9825 | CNV | gain | 18304495 |
Residual Variation Intolerance Score:
5.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.47;
28.64% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CHRNA4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA4 Gene
Disorders for CHRNA4 Gene
(21) MalaCards diseases for CHRNA4 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, nocturnal frontal lobe, 1 |
|
|
| nicotine dependence, protection against |
|
|
| chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant |
|
|
| epilepsy |
|
|
| idiopathic generalized epilepsy |
|
Search CHRNA4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACHA4_HUMAN- Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269 PubMed:10563623, ECO:0000269 PubMed:14623738, ECO:0000269 PubMed:7550350}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CHRNA4
No data available for Genatlas for CHRNA4 Gene
Publications for CHRNA4 Gene
- Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (PMID: 19628475) Sabatelli M. … Zollino M. (Hum. Mol. Genet. 2009) 3 22 46 64
- Association of nAChR gene haplotypes with heavy alcohol use and body mass. (PMID: 19698703) Landgren S. … Jerlhag E. (Brain Res. 2009) 3 22 46 64
- CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. (PMID: 18226955) Combi R. … Tenchini M.L. (Sleep Med. 2009) 3 22 46 64
- A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y. … Xu Q. (Epilepsy Res. 2009) 3 22 46 64
- Association of nicotinic acetylcholine receptor subunit alpha 4 polymorphisms with nicotine dependence in 5500 Germans. (PMID: 19290018) Breitling L.P. … Winterer G. (Pharmacogenomics J. 2009) 3 22 46 64
Products for CHRNA4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for CHRNA4 (Nicotinic Acetylcholine R alpha 4/CHRNA4)
- Browse Primary Antibodies
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- Browse Immunoprecipitation Assays
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- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CHRNA4
- Origene Custom Protein Services for CHRNA4
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHRNA4
- Browse OriGene Inhibitory RNA Products For CHRNA4
- OriGene qPCR primer pairs for CHRNA4
- OriGene CRISPR knockouts for CHRNA4
- OriGene ORF clones in human for CHRNA4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHRNA4
- GenScript: Next-day shipping cDNA ORF clone for CHRNA4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CHRNA4
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- Gene Mutant Library, Variants up to 10^11
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- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CHRNA4
- Novus Biologicals proteins and lysates for CHRNA4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for CHRNA4
- Abcam proteins for CHRNA4
- Search for Assays for CHRNA4 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Cloud-Clone Corp. Antibodies for CHRNA4
- Cloud-Clone Corp. Proteins for CHRNA4
- Browse Assay Kits at Cloud-Clone Corp.
- Invitrogen Antibodies for CHRNA4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for CHRNA4
- antibodies-online Antibodies for CHRNA4: See all 58
- antibodies-online Kits for CHRNA4: See all 3
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex CHRNA4 antibody for CHRNA4
- Search GeneTex for Proteins for CHRNA4
- ViGene Biosciences adenoviral particle packaged cDNA for CHRNA4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CHRNA4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CHRNA4 gene
- Search ViGene Biosciences for CHRNA4
- Santa Cruz Biotechnology (SCBT) Antibodies for CHRNA4
- Search Santa Cruz Biotechnology (SCBT) for CHRNA4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CHRNA4
- Horizon Cell Lines for CHRNA4
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHRNA4
- VectorBuilder custom plasmid, inducible vectors for CHRNA4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRNA4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CHRNA4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer