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Relevance to Autism

Studies have found rare mutations in the TSPAN7 gene that are associated with autism (e.g. Piton et al., 2011), although one of these found that a TSPAN7 duplication did not disrupt gene expression and so likely was not the cause for the disease (they also found no other variants in their screening of other autistic patients) (Noor et al., 2009). In addition, studies have found rare variants in TSPAN7 that are associated with mental retardation.

Molecular Function

A cell surface glycoprotein with a role in the control of neurite outgrowth

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
DD, ID
ASD, ADHD
Support
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
ID
Microcephaly
Highly Cited
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.
ID
Highly Cited
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
ID
Recent Recommendation
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN259R001 
 translocation 
  
  
  
  
  
 GEN259R002 
 stop_gained 
 c.652G>T 
 p.Gly218Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN259R003 
 missense_variant 
 c.515C>A 
 p.Pro172His 
 Familial 
 Maternal 
 Multiplex 
 GEN259R004 
 frameshift_variant 
 c.564del 
 p.Leu189Ter 
 Familial 
 Maternal 
 Multi-generational 
 GEN259R005 
 missense_variant 
 c.515C>A 
 p.Pro172His 
 Familial 
 Maternal 
  
 GEN259R006 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN259R007 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN259R008 
 translocation 
  
  
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 30
 
X
Duplication
 5
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CACNA1A Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 O00555 Y2H
Kahle JJ , et al. 2010
HAVCR2 Hepatitis A virus cellular receptor 2 84868 Q8TDQ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
KPTN kaptin (actin binding protein) 11133 Q9Y664 LC-MS/MS
LC/ESI/MS/MS
Ewing RM , et al. 2007
nef Protein Nef 156110 P04601 Y2H
Kammula EC , et al. 2013
ARX aristaless related homeobox 11878 O35085 ChIP-qPCR
Quill ML , et al. 2011
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011

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