NTNG1
Homo sapiens
Gene Name: netrin G1
Aliases: Lmnt1; KIAA0976
Chromosome No: 1
Chromosome Band: 1p13.3
Genetic Category: Syndromic-Genetic Association-Rare Single Gene variant
Associated Syndrome(s): Rett syndrome
Aliases: Lmnt1; KIAA0976
Chromosome No: 1
Chromosome Band: 1p13.3
Genetic Category: Syndromic-Genetic Association-Rare Single Gene variant
Associated Syndrome(s): Rett syndrome
Summary Statistics:
ASD Reports: 8
Recent Reports: 4
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
ASD Reports: 8
Recent Reports: 4
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene has been identified with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, a rare mutation in the NTNG1 gene has been identified with Rett syndrome (Borg et al., 2005). In addition, genetic association has been found between the NTNG1 gene and schizophrenia in a Japanese population cohort (Ohtsuki et al., 2008), and rare mutations in the NTNG1 gene have been identified in individuals with ASD (ORoak et al., 2012).
Molecular Function
Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon gui dance cues during vertebrate nervous system development
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
Rett syndrome
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Highly Cited
The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons.
Recent Recommendation
Association of polymorphisms in the haplotype block spanning the alternatively spliced exons of the NTNG1 gene at 1p13.3 with schizophrenia in Japa...
SCZ
Recent Recommendation
Netrin-G2 and netrin-G2 ligand are both required for normal auditory responsiveness.
Recent Recommendation
Axonal netrin-Gs transneuronally determine lamina-specific subdendritic segments.
Recent Recommendation
NGL family PSD-95-interacting adhesion molecules regulate excitatory synapse formation.
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
GEN180C001
intron_variant
rs628117
c.1390+17685C>T;c.1214-26127C>T;c.1088-26127C>T;c.1288+17685C>T;c.1516+17685C>T;c.915-26127C>T
G/A
Japanese
Discovery
GEN180C002
intron_variant
rs1444042
c.1390+10464A>G;c.1213+26120A>G;c.1088-33348A>G;c.1288+10464A>G;c.1516+10464A>G;c.915-33348A>G
T/C
Japanese
Discovery
