ZNF804A
Homo sapiens
Gene Name: Zinc finger protein 804A
Aliases: C2orf10
Chromosome No: 2
Chromosome Band: 2q32.1
Genetic Category: Genetic association-Rare Single Gene variant-Multigenic CNV-Genetic association/rare single gene variant/functional--Functional
Aliases: C2orf10
Chromosome No: 2
Chromosome Band: 2q32.1
Genetic Category: Genetic association-Rare Single Gene variant-Multigenic CNV-Genetic association/rare single gene variant/functional--Functional
Summary Statistics:
ASD Reports: 16
Recent Reports: 2
Annotated variants: 24
Associated CNVs: 8
Evidence score: 2
ASD Reports: 16
Recent Reports: 2
Annotated variants: 24
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP located in intron 2 of the ZNF804A gene (rs7603001) was found to be nominally associated with autism (p=0.018); this association was stronger (p=0.008) in the families of individuals with autism who were verbally deficient (n=761 families). In this same report, ZNF804A expression was found to be reduced in the anterior cingulate gyrus (ACG) of individuals with autism (p=0.009) (Anitha et al., 2012).
Molecular Function
ZNF804A has been shown to associate with schizophrenia and bipolar disorder in multiple genetic association studies (O'Donovan et al., 2008; Riley et al., 2010; Williams et al., 2011).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism.
ASD
Positive Association
A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder.
SCZ
BPD
Positive Association
Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.
SCZ
Positive Association
Identification of loci associated with schizophrenia by genome-wide association and follow-up.
SCZ
BPD
Support
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
ASD
Support
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
DD
Support
Schizophrenia risk ZNF804A interacts with its associated proteins to modulate dendritic morphology and synaptic development
Support
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
ASD
Support
Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression.
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Psychosis Risk Candidate ZNF804A Localizes to Synapses and Regulates Neurite Formation and Dendritic Spine Structure.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN618C001
intron_variant
rs7603001
c.256-31514A>G
G/A
841 ASD families from AGRE (761 families with verbally-deficient individuals)
Discovery
GEN618C002
intron_variant
rs1344706
c.256-19902A>C
SCZ meta-analysis cohort of 7308 cases and 12834 controls (discovery cohort of 642 SCZ cases and 2937 controls from UK; replication 1 cohort of 1664 cases and 3541 controls; replication 2 cohort of 6666 cases and 9897 controls). SCZ + BPD meta-analysis cohort of 9173 cases and 12834 controls.
Discovery
GEN618C003
intron_variant
rs1344706
c.256-19902A>C
Irish Case-Control Study of Schizophrenia (ICCSS) sample (N=1021 cases, 626 controls)
Replication
GEN618C004
intron_variant
rs13393273
c.111+13880A>G
Irish Case-Control Study of Schizophrenia (ICCSS) sample (N=1021 cases, 626 controls)
Discovery
GEN618C005
intron_variant
rs17508595
c.111+19311C>G
Irish Case-Control Study of Schizophrenia (ICCSS) sample (N=1021 cases, 626 controls)
Discovery
GEN618C006
intron_variant
rs7597593
c.111+69783T>C
T
Irish Case-Control Study of Schizophrenia (ICCSS) sample (N=1021 cases, 626 controls)
Discovery
GEN618C007
intron_variant
rs1344706
c.256-19902A>C
Schizophrenia/schizoaffective disordercases (N= 18945), Schizophrenia plus bipolar disordercases (N=21274), and controls(N=38675)
Replication
GEN618C008
intron_variant
rs10196799
c.112-90368A>T
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
GEN618C009
2_KB_upstream_variant
rs10497655
c.-1646T>C
854 ASD cases and 926 controls from the Han Chinese population
Discovery