NIPA2
Homo sapiens
Gene Name: non imprinted in Prader-Willi/Angelman syndrome 2
Aliases:
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 13
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare NIPA2 deletion was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).
Molecular Function
This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
ASD
