Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide		OMIM	UCSC

Home Page

FLASH GENE

Symbol

CHRNA7

contributors: mct/npt/shn/pgu - updated : 23-01-2018

HGNC name	cholinergic receptor, nicotinic, alpha 7 (neuronal)
HGNC id	1960

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL15Q13 chromosome 15q13.3 microdeletion DUP15Q13 chromosome 15q13.3 duplications
Location	15q13.3      Physical location : 32.322.690 - 32.462.383
Synonym name	cholinergic receptor, nicotinic, alpha polypeptide 7
	nicotinic acetylcholine receptor alpha7 subunit precursor
	neuronal acetylcholine receptor protein, alpha-7 chain
	neuronal acetylcholine receptor subunit alpha-7
	acetylcholine receptor, nicotinic, alpha 7 (neuronal)
	a7 nicotinic acetylcholine receptor
	alpha 7 neuronal nicotinic acetylcholine receptor
	alpha-7 nicotinic cholinergic receptor subunit
Synonym symbol(s)	CHRNA7-2, NACHRA7, nAChR

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	partially duplicated
STRUCTURE	139.70 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D15S1013 - D15S1031 - CHRNA7 - D15S1010 - D15S231 - qter

RNA

TRANSCRIPTS	type	messenger

text	transcription of CHRNA7 is modulated by chromatin interactions with the PWS-IC (PMID:21840925)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000746 10 splicing 2171 NP_000737 - 512 - 2017 29129316 NM_001190455 10 splicing 3443 NP_001177384 - 531 - 2017 29129316

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Homo sapiens Adult   brain limbic system hippocampus dentate gyrus   Homo sapiens   brain limbic system hippocampus   highly Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous central     predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune dendritic cell Homo sapiens Lymphoid/Immune lymphocyte Homo sapiens Lymphoid/Immune macrophage Homo sapiens Nervous neuron Homo sapiens

cell lineage
cell lines	human neuroblastoma cell line SH-SY5Y and/or IMR-32 (
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large N terminal extracellular domain
	two agonist binding sites
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore

conjugated

Other

mono polymer

homomer , pentamer

HOMOLOGY

interspecies	ortholog to chrna7, Danio rerio
	ortholog to Chrna7, Mus musculus
	ortholog to CHRNA7, Pan troglodytes
	ortholog to Chrna7, Rattus norvegicus

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
text	present in the outer membranes of mitochondria to regulate the early apoptotic events like cytochrome c release

basic FUNCTION	regulating keratinocyte chemokinesis and chemotaxis, respectively, and signaling pathways mediating these functions, having clinical implications for wound healing and control of cancer metastases
	implicated in neuronal functions, including learning, memory, and attention
	plays an important role in non-small cell lung cancer cell growth and tumour progression as well as in cell death
	plays a dominant role in nicotine-induced cell signaling
	distinct and varied spatiotemporal expression of CHRNA7 during tooth development
	is an important mediator of cholinergic transmission during brain development
	exhibits a pleiotropic role in the hematopoietic system that includes both the direct modulation of pro-inflammatory cell composition and later in the adult the role of modulating pro-inflammatory responses that would impact upon an individual lifelong response to inflammation and infection
	regulates axon growth in hippocampal neurons, thereby likely contributing to synaptic formation in the developing brain
	regulate mitochondrial permeability transition pore formation through ion-independent mechanism involving activation of intramitochondrial PI3K/AKT1 pathway and inhibition of calcium-calmodulin-dependent or SRC-kinase-dependent signaling pathways
	is a ligand-activated ion channel that contributes to a diversity of cellular processes involved in development, neurotransmission and inflammation
	contributes to multiple aspects of adrenal gland development and function that persist into adulthood
	role of the CHRNA7 in schizophrenia and likely cholinergic neurotransmission involving the CHRNA7 could be involved in sensory registration processes
	activating CHRNA7 can promote diabetic wound healing by suppressing advanced glycation end products (AGEs)-induced TNF production, which may be closely associated with the blockage of NFKB1 activation in macrophages
	make a complex contribution to network activity and synaptic plasticity in the prelimbic cortex
	is emerging as an important drug target for intervention in inflammation and sepsis
	anti-inflammatory role of CHRNA in Natural killer (NK) cells
	has many important consequences in neuronal cells, including modulation of neuronal excitability and neurotransmitter release as well as calcium flux directly impacting multiple cellular signaling pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	42-amino acid beta-amyloid peptide, Abeta(1-42) (
	PI3K p85 subunit and Fyn (
	PWS-IC (
	TFAP2A plays a negative role in regulating CHRNA7 transcription
	interaction between CHRNA7 and a G-protein pathway complex regulates neurite growth in neural cells
	regulate the early apoptotic events like cytochrome c release
	APP promotes translocation of CHRNA7 towards the cell surface and CHRNA7 rescues neuronal cells from APP-induced damage
	RIC3 is a known chaperone of neuronal CHRNA7

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL15Q13 , DUP15Q13

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   may signal a compensatory response to maintain basocortical cholinergic activity during Alzheimer disease progression tumoral     --over   its expression is significantly higher in small-cell lung carcinoma (SCLC), as in carcinoid tumor

Susceptibility

to autism spectrum disorder

Variant & Polymorphism other	rare variants in autism spectrum disorder susceptibility

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed psychiatry schizophrenia   repression of CHRNA7 mRNA by TFAP2A might be evaluated as a potential modulatory factor in the development of pharmacological targets to treat the symptoms of schizophrenia and other mood disorders reproduction genital   activation of CHRNA7 might be a new candidate for treatment of endometriosis neurology neurodegenerative alzheimer activation of the CHRNA7/PI3K signaling pathway and its cross-talk with the Wnt signaling pathway might well be therapeutic targets for potential AD treatments

ANIMAL & CELL MODELS

	expression of CHRNA7 is significantly reduced frontal cortex from Rett syndrome and autism patients (
	alpha7 nAChR knockout (KO) mouse is viable and has only slight visual dysfunction