NAV3
Homo sapiens
Gene Name: neuron navigator 3
Aliases: POMFIL1, STEERIN3, unc53H3
Chromosome No: 12
Chromosome Band: 12q21.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Aliases: POMFIL1, STEERIN3, unc53H3
Chromosome No: 12
Chromosome Band: 12q21.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 51
Associated CNVs: 5
Evidence score: 4
ASD Reports: 6
Recent Reports: 0
Annotated variants: 51
Associated CNVs: 5
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified NAV3 as a gene reaching exome-wide significance (P < 2.5E-06); association of NAV3 with ASD risk was primarily driven by rare inherited loss-of-function variants.
Molecular Function
This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
DD, ID
ADHD, stereotypy
Support
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Stereotypy
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1347R006
frameshift_variant
c.4377_4380del
p.Pro1460TrpfsTer21
Familial
Multiplex
GEN1347R014
frameshift_variant
c.1940_1941dup
p.Ser648HisfsTer37
Familial
Paternal
GEN1347R017
frameshift_variant
c.3659_3660dup
p.Ser1221ProfsTer50
Familial
Paternal
GEN1347R021
frameshift_variant
c.929_944del
p.Gln310LeufsTer23
Unknown
Not maternal
GEN1347R043
missense_variant
c.2173G>C
p.Val725Leu
De novo
Multiplex (monozygotic twins)
GEN1347R045a
missense_variant
c.6847C>T
p.Arg2261Cys
Familial
Both parents
Multiplex
GEN1347R046a
missense_variant
c.3977G>A
p.Ser1326Asn
Familial
Both parents
Multiplex
GEN1347R048a
frameshift_variant
c.4848_4849del
p.Thr1617TyrfsTer9
Familial
Both parents
Simplex
GEN1347R049
frameshift_variant
c.3621dup
p.Asp1208ArgfsTer58
De novo
Simplex
GEN1347R050a
stop_gained
c.996G>A
p.Trp332Ter
Familial
Both parents
Simplex
GEN1347R051
stop_gained
c.6810G>A
p.Trp2270Ter
Familial
Maternal
Multiplex
Common
No Common Variants Available
