FLNC
Homo sapiens
Gene Name: filamin C
Aliases: ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Rare single gene variant
Aliases: ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 3
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
FLNC was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in four independent families.
Molecular Function
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
