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Relevance to Autism

A rare deletion in the CHRNA7 gene has been identified with developmental delay and intellectual disability (Mikhail et al., 2011). In addition, a rare CHRNA7 duplication was found in two patients with autism and intellectual disability (Leblond et al., 2012).

Molecular Function

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 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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
DD
ID
Support
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
DD, ID, ASD, ADHD
Support
15q13.3 duplication in two patients with childhood-onset schizophrenia.
SCZ
Support
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
DD, ID, epilepsy/seizures
Support
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
DD, ID
Support
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
ASD
DD/ID
Support
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
ASD
ADHD, DD
Support
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Epilepsy
ASD, DD, ID
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Recent Recommendation
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Recent Recommendation
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
ASD, DD, ID
BPD, Epilepsy

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN292R001 
 copy_number_loss 
  
  
  
  
  
 GEN292R002 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN292R003 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN292R004 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Extended multiplex 
 GEN292R005 
 copy_number_loss 
  
  
 Familial 
 Paternal (unconfirmed) 
 Extended multiplex 
 GEN292R006 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN292R007 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN292R008 
 copy_number_loss 
  
  
 De novo 
 NA 
 Unknown 
 GEN292R009 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN292R010 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN292R011 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN292R012 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN292R013a 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN292R014 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN292R015 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN292R016 
 missense_variant 
 G>A 
 p.Gly200Arg 
 Unknown 
  
 Unknown 
 GEN292R017 
 intron_variant 
 G>A 
  
 Unknown 
  
 Unknown 
 GEN292R018 
 intron_variant 
 C>T 
  
 Unknown 
  
 Unknown 
 GEN292R019 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN292R020 
 copy_number_gain 
  
  
 Familial 
 Maternal and paternal 
 Multi-generational 
 GEN292R021 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN292R022 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN292R023 
 missense_variant 
 c.1466G>A 
 p.Trp489Ter 
 Familial 
 Maternal 
  
 GEN292R024 
 2KB_upstream_variant 
  
  
 Unknown 
  
  
 GEN292R025 
 2KB_upstream_variant 
 c.-70_-69del 
  
 Unknown 
  
  
 GEN292R026 
 2KB_upstream_variant 
  
  
 Unknown 
  
  
 GEN292R027 
 5_prime_UTR_variant 
 c.-86C>T 
  
 Unknown 
  
  
 GEN292R028a 
 2KB_upstream_variant 
 c.1-129A>G 
  
 Familial 
 Paternal 
  
 GEN292R028b 
 5_prime_UTR_variant 
 c.27C>T 
  
 Familial 
 Maternal 
  
 GEN292R029 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN292R030 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN292R031 
 missense_variant 
 c.127C>T 
 p.Pro43Ser 
 De novo 
 NA 
 Simplex 
 GEN292R032 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Duplication
 66
  construct
15
Duplication
 14
 
15
Duplication
 3
 
15
Duplication
 1
 
15
Deletion-Duplication
 13
 
15
Deletion
 18
 
15
Deletion-Duplication
 43
 
15
Deletion-Duplication
 71
  construct

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
APP amyloid beta (A4) precursor protein 351 P05067 IP/WB; in vitro binding assay
Wang HY , et al. 2000
ATXN1 ataxin 1 6310 P54253 Y2H
Suter B , et al. 2013
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP-chip
Yasui DH , et al. 2011
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 7020 P05549 Luciferase reporter assay; EMSA; ChIP
Finlay-Schultz J , et al. 2011
Gnai1 guanine nucleotide binding protein (G protein), alpha inhibiting 1 14677 B2RSH2 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnai2 guanine nucleotide binding protein (G protein), alpha inhibiting 2 14678 P08752 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnai3 guanine nucleotide binding protein (G protein), alpha inhibiting 3 14679 Q9DC51 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnaq guanine nucleotide binding protein, alpha q polypeptide 14682 P21279 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus 14683 P63094 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnb1 guanine nucleotide binding protein (G protein), beta 1 14688 P62874 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnb2 guanine nucleotide binding protein (G protein), beta 2 14693 P62880 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Gnb3 guanine nucleotide binding protein (G protein), beta 3 14695 Q61011 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
Adcy6 adenylate cyclase 6 25289 F1LSD1 IP/WB
Oshikawa J , et al. 2003
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 24215 P11506 in silico target prediction; IP/WB
Gmez-Varela D , et al. 2012
Fyn FYN oncogene related to SRC, FGR, YES 25150 Q62844 IP/WB
Kihara T , et al. 2001
Pik3r1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 25513 Q63787 IP/WB
Kihara T , et al. 2001

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