MAPK12
Homo sapiens
Gene Name: mitogen-activated protein kinase 12
Aliases: ERK-6, ERK3, ERK6, MAPK 12, P38GAMMA, PRKM12, SAPK-3, SAPK3
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare single gene variant
Aliases: ERK-6, ERK3, ERK6, MAPK 12, P38GAMMA, PRKM12, SAPK-3, SAPK3
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
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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
GEN691R002
frameshift_variant
c.1030_1031insA
p.Thr344AsnfsTer51
Familial
Maternal
Multiplex
GEN691R003
frameshift_variant
c.961_967del
p.Pro321SerfsTer55
Familial
Paternal
Multiplex
Common
No Common Variants Available
