UNC79
Homo sapiens
Gene Name: unc-79 homolog, NALCN channel complex subunit
Aliases: KIAA1409
Chromosome No: 14
Chromosome Band: 14q32.12
Genetic Category: Rare single gene variant-Functional-Rare single gene variant/Functional
Aliases: KIAA1409
Chromosome No: 14
Chromosome Band: 14q32.12
Genetic Category: Rare single gene variant-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 9
Recent Reports: 3
Annotated variants: 22
Associated CNVs: 8
Evidence score: 4
ASD Reports: 9
Recent Reports: 3
Annotated variants: 22
Associated CNVs: 8
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A de novo loss-of-function (LoF) variant in the UNC79 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. A second LoF variant in this gene was identified as a mosaic mutation in another ASD proband from the Simons Simplex Collection in Krupp et al., 2017.
Molecular Function
This gene encodes for a component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability and that is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
ASD
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
ID
Behavioral abnormalities
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Tissue-specific enhancer functional networks for associating distal regulatory regions to disease
ASD
Recent Recommendation
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD