CMPK2
Homo sapiens
Gene Name: cytidine/uridine monophosphate kinase 2
Aliases: NDK, TMPK2, TYKi, UMP-CMPK2
Chromosome No: 2
Chromosome Band: 2p25.2
Genetic Category: Rare single gene variant
Aliases: NDK, TMPK2, TYKi, UMP-CMPK2
Chromosome No: 2
Chromosome Band: 2p25.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo nonsense variant in the CMPK2 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a de novo frameshift variant in this gene was observed in an ASD proband from a multiplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified CMPK2 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells.
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
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Recent Recommendation
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD