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Relevance to Autism

This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).

Molecular Function

Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway and plays a role in myoblast differentiation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN691R001 
 missense_variant 
 c.691C>T 
 p.His231Tyr 
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 9
 
22
Deletion
 1
 
22
Deletion-Duplication
 16
 
22
Deletion-Duplication
 21
 
22
Duplication
 24
 
22
Deletion-Duplication
 54
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
GTF2I general transcription factor IIi 2969 P78347 Y2H
Wang J , et al. 2011
MAPK13 mitogen-activated protein kinase 13 5603 O15264 IP; LC-MS/MS
Huttlin EL , et al. 2015
MYLK3 Myosin light chain kinase 3 91807 Q32MK0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PARP11 poly (ADP-ribose) polymerase family, member 11 57097 Q9NR21 IP; LC-MS/MS
Huttlin EL , et al. 2015
SIAH1 seven in absentia homolog 1 (Drosophila) 6477 Q8IUQ4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
Mir200c microRNA 200c 723944 RNA immunoprecipitation (RIP)/microarray; Luciferase reporter assay; Ectopic expression/qRT-PCR
Perdigo-Henriques R , et al. 2015

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