CHRNA7 - cholinergic receptor nicotinic alpha 7 subunit Gene

Homo sapiens

Also known as NACHRA7; CHRNA7-2

Gene ID: 1139 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02672	CHRNA7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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