MYO16
Homo sapiens
Gene Name: myosin XVI
Aliases: RP11-54H7.1, KIAA0865, MYR8, Myo16b
Chromosome No: 13
Chromosome Band: 13q33.3
Genetic Category: Genetic Association-Rare single gene variant
Aliases: RP11-54H7.1, KIAA0865, MYR8, Myo16b
Chromosome No: 13
Chromosome Band: 13q33.3
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 19
Associated CNVs: 22
Evidence score: 2
ASD Reports: 10
Recent Reports: 2
Annotated variants: 19
Associated CNVs: 22
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the MYO16 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
motor protein, actin binding
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Specific language impairment
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
ASD, SCZ
Highly Cited
Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1.
Recent Recommendation
Myosin XVI Regulates Actin Cytoskeleton Dynamics in Dendritic Spines of Purkinje Cells and Affects Presynaptic Organization.
Recent Recommendation
Myosin16b: The COOH-tail region directs localization to the nucleus and overexpression delays S-phase progression.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN164R003
missense_variant
c.2122G>A
p.Ala708Thr
Familial
Paternal
Possibly multi-generational
GEN164R004
splice_site_variant
c.2228-1G>A
Familial
Maternal
Possibly multi-generational
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN164C009
intergenic_variant
rs1328244
Discovery cohort: 2165 participants from AGRE
Discovery
GEN164C010
downstream_gene_variant
rs9521354
Discovery cohort: 2165 participants from AGRE
Discovery
GEN164C011
downstream_gene_variant
rs9521355
Discovery cohort: 2165 participants from AGRE
Discovery
