Fezf2
Homo sapiens
Gene Name: FEZ family zinc finger 2
Aliases: FEZ, FEZL, FKSG36, FLJ10142, TOF, ZFP312, ZNF312
Chromosome No: 3
Chromosome Band: 3p14.2
Genetic Category: Genetic Association-Rare Single Gene variant
Aliases: FEZ, FEZL, FKSG36, FLJ10142, TOF, ZFP312, ZNF312
Chromosome No: 3
Chromosome Band: 3p14.2
Genetic Category: Genetic Association-Rare Single Gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 4
Annotated variants: 10
Associated CNVs: 0
Evidence score: 3
ASD Reports: 10
Recent Reports: 4
Annotated variants: 10
Associated CNVs: 0
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the FEZF2 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). In addition, a rare mutation in the FEZF2 gene has been identified in an individual with ASD (Sanders et al., 2012). A de novo loss-of-function variant in FEZF2 was identified in an ASD proband from the SPARK cohort in Feliciano et al., 2019; in the same report, a meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified FEZF2 as an ASD candidate gene with a q-value 0.1.
Molecular Function
Regulation of transcription
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
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD, autistic behavior
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Highly Cited
Fezl is required for the birth and specification of corticospinal motor neurons.
Highly Cited
Zinc finger protein too few controls the development of monoaminergic neurons.
Recent Recommendation
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons.
Recent Recommendation
The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN090R002a
inframe_deletion
c.710_721del
p.Arg237_Ala240del
Familial
Both parents
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN090C001
2KB_upstream_variant
rs3755827
c.-1476A>G
C to T
US and European
Discovery
GEN090C002
2KB_upstream_variant
rs3755827
c.-1476A>G
Discovery cohort: 2165 participants from AGRE
Discovery
