WNT2
Homo sapiens
Gene Name: wingless-type MMTV integration site family member 2
Aliases: IRP, INT1L1
Chromosome No: 7
Chromosome Band: 7q31.2
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-
Aliases: IRP, INT1L1
Chromosome No: 7
Chromosome Band: 7q31.2
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-
Summary Statistics:
ASD Reports: 11
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 6
Evidence score: 0
ASD Reports: 11
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 6
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Studies have found rare variants and genetic association of the WNT2 gene with autism in CLSA and Japanese population cohorts and with age of first phrase in a Chinese Han autism cohort (Lin et al., 2012). However, other studies have found no genetic association of WNT2 with autism in separate US population cohorts.
Molecular Function
The encoded protein is a constituent of the extracellular matrix and plays a rol e in signal transduction.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
The WNT2 gene polymorphism associated with speech delay inherent to autism.
ASD
Positive Association
Association between autism and variants in the wingless-type MMTV integration site family member 2 ( WNT2) gene.
ASD
Positive Association
A translational exploration of the effects of WNT2 variants on altered cortical structures in autism spectrum disorder
Cortical thickness
Positive Association
The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders.
ASD
Nonverbal communication deficits (ADI-R), stereoty
Negative Association
Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.
ASD
Negative Association
Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.
ASD
Negative Association
No association between the WNT2 gene and autistic disorder.
ASD
Highly Cited
Targeted disruption of the Wnt2 gene results in placentation defects.
Recent Recommendation
Activation of Notch1 signaling in cardiogenic mesoderm induces abnormal heart morphogenesis in mouse.
Recent Recommendation
Wnt2 is a direct downstream target of GATA6 during early cardiogenesis.
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
GEN265C001
intron_variant
rs3779547
c.853+6704T>C;c.565+6704T>C;c.766+6704T>C
A/G
Japanese
Discovery
GEN265C002
intron_variant
rs4727847
c.853+9295A>C;c.565+9295A>C;c.766+9295A>C
G/T
Japanese
Discovery
GEN265C003
intron_variant
rs3729629
c.854-8194G>C;c.566-8194G>C;c.767-8194G>C
C/G
Japanese
Discovery
GEN265C004
2KB_upstream_variant
rs39315
c.-519A>G;c.-743A>G;c.-1279A>G
A to G
US
Discovery
GEN265C008
intron_variant
rs2896218
c.854-1540C>T;c.566-1540C>T;c.767-1540C>T
Chinese Han
Discovery
GEN265C009
intron_variant
rs6950765
c.854-2792G>C;c.566-2792G>C;c.767-2792G>C
Chinese Han
Discovery
GEN265C010
intron_variant
rs2896218
c.854-1540C>T;c.566-1540C>T;c.767-1540C>T
391 ASD cases (88.3% male; age 9.5 4.4 years) of Han Chinese descent
Replication
GEN265C011
intron_variant
rs6950765
c.854-2792G>C;c.566-2792G>C;c.767-2792G>C
391 ASD cases (88.3% male; age 9.5 4.4 years) of Han Chinese descent
Replication
GEN265C012
intron_variant
rs10227271
c.589-2118T>C
391 ASD cases (88.3% male; age 9.5 4.4 years) of Han Chinese descent
Discovery
GEN265C013
intron_variant
rs2285545
c.588+6954G>T
391 ASD cases (88.3% male; age 9.5 4.4 years) of Han Chinese descent
Discovery