INPP1
Homo sapiens
Gene Name: inositol polyphosphate-1-phosphatase
Aliases:
Chromosome No: 2
Chromosome Band: 2q32.2
Genetic Category: Genetic Association-Rare single gene variant-
Aliases:
Chromosome No: 2
Chromosome Band: 2q32.2
Genetic Category: Genetic Association-Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 5
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the INPP1 gene and autism in an AGRE cohort (Serajee et al., 2003). However, genetic association was not found between INPP1 and lithium prophylactic response in a sample of bipolar disorder type I patients (Michelon et al., 2006).
Molecular Function
The encoded protein belongs to the phosphatidylinositol signaling pathways.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.
ASD
Highly Cited
The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illn...
Recent Recommendation
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Recent Recommendation
Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bip...
BPD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN135C002
frameshift_variant
rs4940
c.346_348delGTGinsA;c.346_348delGTGinsG
p.Val116Glyfs;p.Val116Serfs
AGRE
Discovery
