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Relevance to Autism

Two de novo missense variants in the DMXL2 gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.07) (Iossifov et al., 2014; Krumm et al., 2015).

Molecular Function

This gene encodes a protein with 12 WD domains; proteins with WD domains are involved in many functions including participation in signal transduction pathways. May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles and plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Epilepsy/seizures
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
ASD or autistic features
ADHD, behavioral problems

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN736R001 
 missense_variant 
 c.7229C>G 
 p.Ser2410Cys 
 De novo 
  
 Simplex 
 GEN736R002 
 missense_variant 
 c.7143G>A 
 p.Met2381Ile 
 De novo 
  
 Simplex 
 GEN736R003 
 missense_variant 
 c.3455A>G 
 p.Asp1152Gly 
 De novo 
  
 Simplex 
 GEN736R004 
 missense_variant 
 c.6137C>T 
 p.Ala2046Val 
 De novo 
  
 Simplex 
 GEN736R005 
 stop_gained 
 c.6430C>T 
 p.Arg2144Ter 
 De novo 
  
 Multiplex 
 GEN736R006 
 copy_number_loss 
  
  
 Familial 
  
 Multi-generational 
 GEN736R007 
 missense_variant 
 c.4987G>A 
 p.Ala1663Thr 
 Unknown 
  
  
 GEN736R008 
 missense_variant 
 c.4690G>A 
 p.Glu1564Lys 
 De novo 
  
  
 GEN736R009a 
 missense_variant 
 c.352T>C 
 p.Trp118Arg 
 Familial 
 Both parents 
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 81
  construct
15
Deletion
 2
 
15
Deletion-Duplication
 10
 
15
Deletion
 1
 
15
Duplication
 1
 

No Animal Model Data Available





Download DMXL2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ANTXR1 CHRM3 84168 Q96EC6 IP; LC-MS/MS
Huttlin EL , et al. 2015
C1QTNF2 Complement C1q tumor necrosis factor-related protein 2 Q9BXJ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DEF8 differentially expressed in FDCP 8 homolog (mouse) 54849 Q6ZN54 IP; LC-MS/MS
Huttlin EL , et al. 2015
NPY2R Neuropeptide Y receptor type 2 4887 P49146 IP; LC-MS/MS
Huttlin EL , et al. 2015
ROGDI rogdi homolog (Drosophila) 79641 Q9GZN7 IP; LC-MS/MS
Huttlin EL , et al. 2015
RP2 retinitis pigmentosa 2 (X-linked recessive) 6102 O75695 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSPYL6 Testis-specific Y-encoded-like protein 6 388951 Q8N831 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDYHV1 WDYHV motif containing 1 55093 Q96HA8 IP; LC-MS/MS
Huttlin EL , et al. 2015
YBEY Putative ribonuclease P58557 IP; LC-MS/MS
Huttlin EL , et al. 2015
Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1 11975 Q9Z1G4 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v0c ATPase, H+ transporting, lysosomal V0 subunit C 11984 P63082 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v0d1 ATPase, H+ transporting, lysosomal V0 subunit D1 11972 P51863 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1a ATPase, H+ transporting, lysosomal V1 subunit A 11964 P50516 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 11966 P62814 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1c1 ATPase, H+ transporting, lysosomal V1 subunit C1 66335 Q9Z1G3 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1d ATPase, H+ transporting, lysosomal V1 subunit D 73834 P57746 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 11973 P50518 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1f ATPase, H+ transporting, lysosomal V1 subunit F 66144 Q9D1K2 IP; LC-MS/MS
Li KW , et al. 2012
Atp6v1h ATPase, H+ transporting, lysosomal V1 subunit H 108664 Q8BVE3 IP; LC-MS/MS
Li KW , et al. 2012
Cyfip2 cytoplasmic FMR1 interacting protein 2 76884 Q5SQX6 IP; LC-MS/MS
Li KW , et al. 2012
Dync1h1 dynein cytoplasmic 1 heavy chain 1 13424 Q9JHU4 IP; LC-MS/MS
Li KW , et al. 2012
Idh3g isocitrate dehydrogenase 3 (NAD+), gamma 15929 P70404 IP; LC-MS/MS
Li KW , et al. 2012
Matr3 matrin 3 17184 Q8K310 IP; LC-MS/MS
Li KW , et al. 2012
Nckap1 NCK-associated protein 1 50884 P28660 IP; LC-MS/MS
Li KW , et al. 2012
Pfkl phosphofructokinase, liver, B-type 18641 P12382 IP; LC-MS/MS
Li KW , et al. 2012
Pfkp phosphofructokinase, platelet 56421 Q9WUA3 IP; LC-MS/MS
Li KW , et al. 2012
Prkcc protein kinase C, gamma 18752 P63318 IP; LC-MS/MS
Li KW , et al. 2012
Wdr7 WD repeat domain 7 104082 Q920I9 IP; LC-MS/MS
Li KW , et al. 2012

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