CHRNA7 - cholinergic receptor nicotinic alpha 7 subunit Gene

Also Known as NACHRA7; CHRNA7-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1139

About CHRNA7

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:32,030,483-32,173,018 (from NCBI)

This gene has 37 transcripts (splice variants), 1 gene allele, 243 orthologues, 45 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 4.1), small intestine (RPKM 4.1) and 19 other tissues.

Summary

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA7 Products (2)

mRNA	Protein	Name
NM_000746.6	NP_000737.1	neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor
NM_001190455.3	NP_001177384.1	neuronal acetylcholine receptor subunit alpha-7 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylcholine binding	IDA IDA: Inferred from direct assay	8145738	GOA
enables acetylcholine receptor activity	IDA IDA: Inferred from direct assay	8906617	GOA
enables acetylcholine-gated monoatomic cation-selective channel activity	IDA IDA: Inferred from direct assay	8145738	GOA
enables amyloid-beta binding	IPI IPI: Inferred from physical interaction	10681545	GOA
enables chloride channel regulator activity	IDA IDA: Inferred from direct assay	8145738	GOA
enables monoatomic ion channel activity	IDA IDA: Inferred from direct assay	17898229	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10681545	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	8145738	GOA
enables toxic substance binding	IDA IDA: Inferred from direct assay	12508119	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transport	IDA IDA: Inferred from direct assay	8145738	GOA
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	10771023	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	16754836	GOA
involved in excitatory postsynaptic potential	IDA IDA: Inferred from direct assay	21718690	GOA
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	16280133	GOA
involved in monoatomic ion transmembrane transport	IDA IDA: Inferred from direct assay	21718690	GOA
involved in negative regulation of amyloid-beta formation	IGI IGI: Inferred from genetic interaction	20708605	GOA
acts upstream of or within negative regulation of tumor necrosis factor production	IDA IDA: Inferred from direct assay	12508119	GOA
involved in negative regulation of tumor necrosis factor production	IMP IMP: Inferred from mutant phenotype	12508119	GOA
involved in positive regulation of MAPK cascade	IDA IDA: Inferred from direct assay	10771023	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	12189247	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	16280133	GOA
involved in regulation of amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	20708605	GOA
involved in response to acetylcholine	IDA IDA: Inferred from direct assay	17898229	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	12189247	GOA
involved in response to nicotine	IDA IDA: Inferred from direct assay	8145738	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	8906617	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of acetylcholine-gated channel complex	IDA IDA: Inferred from direct assay	8906617	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12508119	GOA
is active in postsynaptic membrane	IDA IDA: Inferred from direct assay	21718690	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHRNA7 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
502 a.a.

Protein Preferred Names	Protein Names
neuronal acetylcholine receptor subunit alpha-7	a7 nicotinic acetylcholine receptor

CHRNA7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHRNA7	P36544	CHRFAM7A	Homo sapiens	Q494W8	Anti Bait CoIP	28750690
Intra	CHRNA7	P36544	APP	Homo sapiens	P05067	Imaging	10681545
Intra	CHRNA7	P36544	P05067-PRO_0000000092	Homo sapiens	P05067-PRO_0000000092	Solid Phase Assay	28750690
Intra	CHRNA7	P36544	P05067-PRO_0000000092	Homo sapiens	P05067-PRO_0000000092	Anti Bait CoIP	10681545

Cross: Cross-species interaction Intra: Intraspecies interaction

CHRNA7 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83668	CHRNA7 Antibody (YA3499)	IHC-P, FC, ELISA	Human
HY-P84284	CHRNA7 Antibody (YA3981)	WB, FC, ELISA	Human, Rat
HY-P84284A	CHRNA7 Antibody (YA3981)(PBS only)	WB, FC, ELISA	Human, Rat
HY-P84285	CHRNA7 Antibody (YA3982)	IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit
HY-P84285A	CHRNA7 Antibody (YA3982)(PBS only)	IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit

Related Diseases

Diseases	Alias
Epilepsy, Idiopathic Generalized 7	Epilepsy, Idiopathic Generalized, Susceptibility To, 7 EIG7 Idiopathic Generalized Epilepsy 7 Epilepsy, Juvenile Myoclonic
Chromosome 15q13.3 Deletion Syndrome	Chromosome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Microdeletion 15q13.3 Syndrome Del(15)(Q13.3) Monosomy 15q13.3
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Pyromania	Firesetting Behavior Pathological Firesetting Pathological Fire-Setting
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Schizophrenia 19	SCZD19 Schizophrenia 19 With Or Without An Affective Disorder Schizophrenia 19, Susceptibility To {Schizophrenia 19, Susceptibility To}
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Tricuspid Valve Stenosis	Tricuspid Stenosis Tricuspid Stricture Tricuspid Valve Stricture Tricuspid Insufficiency With Obstruction Tricuspid Insufficiency With Stenosis
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Chromosome 1q21.1 Duplication Syndrome	1q21.1 Microduplication Syndrome Trisomy 1q21.1 1q21.1 Duplication Syndrome 1q21.1 Microduplication 1q21.1 Duplication Dup(1)(Q21.1)
Non-Syndromic X-Linked Intellectual Disability 91	Mrx91
Spinocerebellar Ataxia, Autosomal Recessive 15	Autosomal Recessive Spinocerebellar Ataxia 15 SCAR15 Salih Ataxia Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia, Autosomal Recessive, 15 Ataxia, Spinocerebellar, Autosomal Recessive, Type 15
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Retinitis Pigmentosa 38	RP38 Rod-Cone Dystrophy, Childhood-Onset Retinitis Pigmentosa, Type 38
Obsessive-Compulsive Disorder	OCD Obsessive-Compulsive Disorder, Susceptibility To Anancastic Neurosis Obsessive Compulsive Disorder Anankastic Neurosis Obsessive-Compulsive Neurosis Obsessive Compulsive Behavior
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Adolescence-Adult Electroclinical Syndrome
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Chromosomal Deletion Syndrome
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02672	CHRNA7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02659	CHRFAM7A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19768	Chrna7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26265	Chrna7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHRNA7	MGD	MGI:99779
Rattus norvegicus	CHRNA7	RGD	RGD:2348