TNIP2
Homo sapiens
Gene Name: TNFAIP3 interacting protein 2
Aliases: RP3-474M20.1, ABIN2, FLIP1, KLIP
Chromosome No: 4
Chromosome Band: 4p16.3
Genetic Category: Rare Single Gene variant
Aliases: RP3-474M20.1, ABIN2, FLIP1, KLIP
Chromosome No: 4
Chromosome Band: 4p16.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare duplication in the TNIP2 gene has been identified with ASD (Salyakina et al., 2011).
Molecular Function
TNIP2 binds to the C-terminal zinc finger domain of A20 and is involved in activation of the ERK MAP kinase pathway in various cell types. It inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
MR
