Gene: WAC
Alternate names for this Gene: BM-016|DESSH|PRO1741|Wwp4
Gene Summary: The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 10
Location in Chromosome : 10p12.1|10p12.1-p11.2
Description of this Gene: WW domain containing adaptor with coiled-coil
Type of Gene: protein-coding
rs181666690 in
WAC gene and
Alzheimer's Disease
PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
rs1554791943 in
WAC gene and
DESANTO-SHINAWI SYNDROME
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
rs864321692 in
WAC gene and
Dysmorphic features
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
rs2790457 in
WAC gene and
Multiple Myeloma
PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
rs864321692 in
WAC gene and
Multiple congenital anomalies
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
rs864321692 in
WAC gene and
Muscle hypotonia
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.