GGNBP2
Homo sapiens
Gene Name: gametogenetin binding protein 2
Aliases: DIF-3, DIF3, LCRG1, LZK1, ZFP403, ZNF403
Chromosome No: 17
Chromosome Band: 17q12
Genetic Category: Rare single gene variant
Aliases: DIF-3, DIF3, LCRG1, LZK1, ZFP403, ZNF403
Chromosome No: 17
Chromosome Band: 17q12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 1
Evidence score: 3
ASD Reports: 3
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
De novo loss-of-function (LoF) variants in the GGNBP2 gene were identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014) and an ASD proband from a cohort of 262 Japanese trios (Takata et al., 2018). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as the Japanese ASD cohort from Takata et al., 2018, identified GGNBP2 as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).
Molecular Function
May be involved in spermatogenesis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
