GALNT14
Homo sapiens
Gene Name: polypeptide N-acetylgalactosaminyltransferase 14
Aliases: UNQ2434/PRO4994, GALNT15, GalNac-T10, GalNac-T14
Chromosome No: 2
Chromosome Band: 2p23.1
Genetic Category: Genetic association-Rare single gene variant
Aliases: UNQ2434/PRO4994, GALNT15, GalNac-T10, GalNac-T14
Chromosome No: 2
Chromosome Band: 2p23.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the GALNT14 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN396R007
frameshift_variant
c.910del
p.Asp304IlefsTer25
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN396C001
intron_variant
rs10205350
c.1395+488C>A;c.1320+488C>A;c.1380+488C>A;c.1275+488C>A
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
