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Relevance to Autism

A de novo complex chromosomal rearrangement with breakpoints disrupting the intronic sequence of the RAB19, PPFIA1, and SHANK2 genes was identified in a 3.5-year-old male patient with moderate ID, speech delay, autistic behavior, and facial dysmorphism (Schluth-Bolard et al., 2013). A rare de novo missense variant that was predicted to be probably damaging was identified in the PPFIA1 gene in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014; yeast two-hybrid experiments in Chen et al., 2018 demonstrated that this variant disrupted the interaction of PPFIA1 with several genes, including the ASD candidate gene PPP2R5D.

Molecular Function

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangemen...
DD, ID
Autistic behavior
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN512R001 
 translocation 
  
  
 De novo 
  
 Simplex 
 GEN512R002 
 missense_variant 
 c.988C>T 
 p.Leu330Phe 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion
 2
 
11
Duplication
 4
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C16ORF70 chromosome 16 open reading frame 70 80262 Q9BSU1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC120 Coiled-coil domain-containing protein 120 Q96HB5 IP; LC-MS/MS
Huttlin EL , et al. 2015
CYP4X1 Cytochrome P450 4X1 Q8N118 IP; LC-MS/MS
Huttlin EL , et al. 2015
ERC2 ERC protein 2 26059 O15083 Y2H; IP/WB; Co-localization
Ko J , et al. 2003
EXOC8 exocyst complex component 8 149371 Q8IYI6 IP; LC-MS/MS
Huttlin EL , et al. 2015
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 28964 Q59FC3 Y2H; IP/WB
Ko J , et al. 2003
GPS2 G protein pathway suppressor 2 2874 Q13227 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRIP2 glutamate receptor interacting protein 2 80852 Q9C0E4 Y2H; IP/WB
Ko J , et al. 2003
IL17RE Interleukin-17 receptor E Q8NFR9-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
LLGL2 lethal giant larvae homolog 2 (Drosophila) 3993 Q6P1M3 IP; LC-MS/MS
Huttlin EL , et al. 2015
NF2 neurofibromin 2 (merlin) 4771 P35240 IP; LC-MS/MS
Huttlin EL , et al. 2015
PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme 5516 P62714 IP; LC-MS/MS
Huttlin EL , et al. 2015
SERPINB2 Plasminogen activator inhibitor 2 5055 P05120 IP; LC-MS/MS
Huttlin EL , et al. 2015
STX11 syntaxin 11 8676 O75558 IP; LC-MS/MS
Huttlin EL , et al. 2015
TTC9B Tetratricopeptide repeat protein 9B 148014 Q8N6N2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRIP1 glutamate receptor interacting protein 1 84016 P97879 Y2H; IP/WB; GST
Wyszynski M , et al. 2002

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