CHRNA7 cholinergic receptor nicotinic alpha 7 subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRNA7provided by HGNC
Official Full Name: cholinergic receptor nicotinic alpha 7 subunitprovided by HGNC
Primary source: HGNC:HGNC:1960
See related: Ensembl:ENSG00000175344 MIM:118511; AllianceGenome:HGNC:1960
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NACHRA7; CHRNA7-2
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]
Expression: Broad expression in adrenal (RPKM 4.1), small intestine (RPKM 4.1) and 19 other tissues See more
Orthologs: all
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Genomic context

Location:: 15q13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (32030483..32173018)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (29824630..29967342)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (32322686..32465219)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of alpha7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1beta in the process of physiological root resorption of deciduous teeth.
Title: Effect of α7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1β in the process of physiological root resorption of deciduous teeth.
The role of nicotinic acetylcholine receptors in the pathophysiology and pharmacotherapy of autism spectrum disorder: Focus on alpha7 nicotinic receptors.
Title: The role of nicotinic acetylcholine receptors in the pathophysiology and pharmacotherapy of autism spectrum disorder: Focus on α7 nicotinic receptors.
The human alpha7 nicotinic acetylcholine receptor is a host target for the rabies virus glycoprotein.
Title: The human alpha7 nicotinic acetylcholine receptor is a host target for the rabies virus glycoprotein.
Regulation of Inflammation by IRAK-M Pathway Can Be Associated with nAchRalpha7 Activation and COVID-19.
Title: Regulation of Inflammation by IRAK-M Pathway Can Be Associated with nAchRalpha7 Activation and COVID-19.
Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein.
Title: Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein.
Epstein-Barr virus downregulates the alpha7 nicotinic acetylcholine receptor of CD8[+] T lymphocytes might associate with coronary artery lesions in Kawasaki disease patients.
Title: Epstein-Barr virus downregulates the α7 nicotinic acetylcholine receptor of CD8(+) T lymphocytes might associate with coronary artery lesions in Kawasaki disease patients.
alpha7 Nicotinic acetylcholine receptor potentiation downregulates chemotherapy-induced inflammatory overactivation by overlapping intracellular mechanisms.
Title: α7 Nicotinic acetylcholine receptor potentiation downregulates chemotherapy-induced inflammatory overactivation by overlapping intracellular mechanisms.
alpha7 Nicotinic acetylcholine receptors regulate translocation of HIF-1alpha to the cell nucleus and mitochondria upon hypoxia.
Title: α7 Nicotinic acetylcholine receptors regulate translocation of HIF-1α to the cell nucleus and mitochondria upon hypoxia.
alpha7 Nicotinic acetylcholine receptor: a key receptor in the cholinergic anti-inflammatory pathway exerting an antidepressant effect.
Title: α7 Nicotinic acetylcholine receptor: a key receptor in the cholinergic anti-inflammatory pathway exerting an antidepressant effect.
The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p, and 15q13.3 hotspot CNVs in migraineurs.
Title: The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p, and 15q13.3 hotspot CNVs in migraineurs.

Submit: New GeneRIF Correction See all GeneRIFs (258)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chromosome 15q13.3 microdeletion syndrome MedGen: C2677613 OMIM: 612001 GeneReviews: 15q13.3 Recurrent Deletion	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2018-05-10) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2018-05-10) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of cholinergic receptor, nicotinic, alpha 7 (CHRNA7) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 infection upregulates CHRNA7 expression in basal ganglia of HIV infected patients	PubMed
	env	HIV-1 IIIB Env (gp120) engages CXCR4 and downregulates CHRFAM7A expression in neuronal cells and induces expression of CHRNA7	PubMed
	env	HIV-1 IIIB Env (gp120) upregulates CHRNA7 in monocyte derived macrophages	PubMed
	env	HIV-1 gp120-mediated CXCR4 activation induces upregulation of neuronal nicotinic receptor, alpha-7	PubMed
	env	HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S610E (e-PCR)
- UniSTS:12292

RH26807 (e-PCR)
- UniSTS:89112

SHGC-12902 (e-PCR)
- UniSTS:1097

RH78395 (e-PCR)
- UniSTS:82771

SHGC-78782 (e-PCR)
- UniSTS:96083

SHGC-146010 (e-PCR)
- UniSTS:174937

SHGC-85789 (e-PCR)
- UniSTS:103800

RH121251 (e-PCR)
- UniSTS:138362

CHRFAM7A_s9 (e-PCR)
- UniSTS:510361

RH11309 (e-PCR)
- UniSTS:60335

STS-X70297 (e-PCR)
- UniSTS:54453

WI-19149 (e-PCR)
- UniSTS:29623

CHRNA7 (e-PCR)
- UniSTS:479949

NoName (e-PCR)
- UniSTS:479961

D15S937 (e-PCR)
- UniSTS:153848

SHGC-36068 (e-PCR)
- UniSTS:65528

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholine receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine-gated monoatomic cation-selective channel activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholine-gated monoatomic cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium channel activity	TAS Traceable Author Statement more info	PubMed
enables chloride channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables toxic substance binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	NAS Non-traceable Author Statement more info	PubMed
involved_in dendrite arborization	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic spine organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in excitatory postsynaptic potential	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	NAS Non-traceable Author Statement more info	PubMed
involved_in modulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of amyloid-beta formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of CoA-transferase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of amyloid-beta formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of amyloid fibril formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of amyloid precursor protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to acetylcholine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to acetylcholine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to amyloid-beta	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nicotine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nicotine	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in short-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, cholinergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of acetylcholine-gated channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in plasma membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynapse	TAS Traceable Author Statement more info	PubMed
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neuronal acetylcholine receptor subunit alpha-7

Names: a7 nicotinic acetylcholine receptor; alpha 7 neuronal nicotinic acetylcholine receptor; alpha-7 nicotinic cholinergic receptor subunit; cholinergic receptor, nicotinic alpha 7; cholinergic receptor, nicotinic, alpha 7 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 7; neuronal acetylcholine receptor protein, alpha-7 chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009216.2 RefSeqGene

Range

5034..147537

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000746.6 → NP_000737.1 neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor

See identical proteins and their annotated locations for NP_000737.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an in-frame portion of the 5' coding region, compared to variant 2. The resulting isoform (1) has a shorter N-terminus, compared to isoform 2.

Source sequence(s)

AC068448, AK292069, BC037571, BI789267

Consensus CDS

CCDS10027.1

UniProtKB/Swiss-Prot

A8K7Q4, B4DFS0, P36544, Q15826, Q8IUZ4, Q96RH2, Q99555, Q9BXH0

UniProtKB/TrEMBL

A0A1W2PN81, Q5W554

Related

ENSP00000303727.2, ENST00000306901.9

Conserved Domains (1) summary

TIGR00860
Location:3 → 490

LIC; Cation transporter family protein
NM_001190455.3 → NP_001177384.1 neuronal acetylcholine receptor subunit alpha-7 isoform 2 precursor

See identical proteins and their annotated locations for NP_001177384.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (2).

Source sequence(s)

AC068448, AK294229, BI789267, U62436

Consensus CDS

CCDS53924.1

UniProtKB/TrEMBL

A0A1W2PN81, Q5W554

Related

ENSP00000407546.3, ENST00000454250.7

Conserved Domains (1) summary

TIGR00860
Location:3 → 519

LIC; Cation transporter family protein

RNA

NR_046324.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate 5' segment and an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068448, BC037571, BI789267, DA583811, U62436

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

32030483..32173018

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521178.4 → XP_011519480.1 neuronal acetylcholine receptor subunit alpha-7 isoform X5

See identical proteins and their annotated locations for XP_011519480.1

UniProtKB/TrEMBL

A0A1B0GTT9

Related

ENSP00000489834.1, ENST00000635884.1

Conserved Domains (2) summary

pfam02931
Location:26 → 230

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:237 → 293

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_011521176.4 → XP_011519478.2 neuronal acetylcholine receptor subunit alpha-7 isoform X1

UniProtKB/TrEMBL

A0A1B0GVH2

Related

ENSP00000490365.1, ENST00000637183.1
XM_047432126.1 → XP_047288082.1 neuronal acetylcholine receptor subunit alpha-7 isoform X2
XM_047432127.1 → XP_047288083.1 neuronal acetylcholine receptor subunit alpha-7 isoform X3
XM_011521177.3 → XP_011519479.1 neuronal acetylcholine receptor subunit alpha-7 isoform X4

See identical proteins and their annotated locations for XP_011519479.1

UniProtKB/TrEMBL

A0A0G2JMC1

Related

ENST00000637189.1

Conserved Domains (2) summary

pfam02931
Location:17 → 129

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:136 → 385

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Reference GRCh38.p14 PATCHES

Genomic

NW_011332701.1 Reference GRCh38.p14 PATCHES

Range

4203151..4345901

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331738.1 → XP_054187713.1 neuronal acetylcholine receptor subunit alpha-7 isoform X5
XM_054331737.1 → XP_054187712.1 neuronal acetylcholine receptor subunit alpha-7 isoform X1
XM_054331734.1 → XP_054187709.1 neuronal acetylcholine receptor subunit alpha-7 isoform X2
XM_054331735.1 → XP_054187710.1 neuronal acetylcholine receptor subunit alpha-7 isoform X3
XM_054331736.1 → XP_054187711.1 neuronal acetylcholine receptor subunit alpha-7 isoform X4

Reference GRCh38.p14 PATCHES

Genomic

NW_012132920.1 Reference GRCh38.p14 PATCHES

Range

355066..497808 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331868.1 → XP_054187843.1 neuronal acetylcholine receptor subunit alpha-7 isoform X5
XM_054331869.1 → XP_054187844.1 neuronal acetylcholine receptor subunit alpha-7 isoform X6

UniProtKB/TrEMBL

A0A0A6YYA8
XM_054331864.1 → XP_054187839.1 neuronal acetylcholine receptor subunit alpha-7 isoform X1
XM_054331866.1 → XP_054187841.1 neuronal acetylcholine receptor subunit alpha-7 isoform X3
XM_054331865.1 → XP_054187840.1 neuronal acetylcholine receptor subunit alpha-7 isoform X2
XM_054331867.1 → XP_054187842.1 neuronal acetylcholine receptor subunit alpha-7 isoform X4

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

4315603..4458353

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330001.1 → XP_054185976.1 neuronal acetylcholine receptor subunit alpha-7 isoform X5
XM_054330000.1 → XP_054185975.1 neuronal acetylcholine receptor subunit alpha-7 isoform X1
XM_054329997.1 → XP_054185972.1 neuronal acetylcholine receptor subunit alpha-7 isoform X2
XM_054329998.1 → XP_054185973.1 neuronal acetylcholine receptor subunit alpha-7 isoform X3
XM_054329999.1 → XP_054185974.1 neuronal acetylcholine receptor subunit alpha-7 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

29824630..29967342

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377233.1 → XP_054233208.1 neuronal acetylcholine receptor subunit alpha-7 isoform X5
XM_054377229.1 → XP_054233204.1 neuronal acetylcholine receptor subunit alpha-7 isoform X1
XM_054377230.1 → XP_054233205.1 neuronal acetylcholine receptor subunit alpha-7 isoform X2
XM_054377231.1 → XP_054233206.1 neuronal acetylcholine receptor subunit alpha-7 isoform X3
XM_054377232.1 → XP_054233207.1 neuronal acetylcholine receptor subunit alpha-7 isoform X4