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Relevance to Autism

Reduced expression in two out of three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients (Anitha et al., 2012).

Molecular Function

Functions in mitochondrial and peroxisomal division. Required for normal brain development. Defects in DNM1L are the cause of encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388].

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain region-specific altered expression and association of mitochondria-related genes in autism.
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, epilepsy/seizures
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Epilepsy/seizures
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN427R001 
 frameshift_variant 
 CAGA>CA 
  
 De novo 
  
 Simplex 
 GEN427R002 
 missense_variant 
 c.511C>A 
 p.Gln171Lys 
 Familial 
  
 Simplex 
 GEN427R003 
 missense_variant 
 c.1124G>A 
 p.Gly375Asp 
 De novo 
  
  
 GEN427R004 
 missense_variant 
 c.1085G>A 
 p.Gly362Asp 
 De novo 
  
  
 GEN427R005 
 frameshift_variant 
 c.896del 
 p.Asp299ValfsTer6 
 Familial 
 Maternal 
 Multiplex 
 GEN427R006 
 missense_variant 
 c.428C>G 
 p.Thr143Arg 
 De novo 
  
 Unknown 
 GEN427R007 
 missense_variant 
 c.1207C>T 
 p.Arg403Cys 
 De novo 
  
 Unknown 
 GEN427R008 
 missense_variant 
 c.2072A>G 
 p.Tyr691Cys 
 De novo 
  
 Unknown 
 GEN427R009a 
 missense_variant 
 c.995C>T 
 p.Thr332Ile 
 Unknown 
  
 Simplex 
 GEN427R009b 
 missense_variant 
 c.1001T>C 
 p.Leu334Pro 
 Unknown 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Deletion-Duplication
 9
 
12
Duplication
 5
 
12
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C14ORF104 Protein kintoun 55172 Q9NVR5-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CA14 Carbonic anhydrase 14 23632 Q9ULX7 IP; LC-MS/MS
Huttlin EL , et al. 2015
CALM2 calmodulin 2 (phosphorylase kinase, delta) 805 P62158 IP/WB; in vitro binding assay
Li S , et al. 2016
CDK5 cyclin-dependent kinase 5 1020 Q00535 in vitro kinase assay
Xie Q , et al. 2015
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) 8851 Q15078 in vitro kinase assay
Xie Q , et al. 2015
CPNE2 copine II 221184 Q96FN4 IP; LC-MS/MS
Huttlin EL , et al. 2015
DGUOK deoxyguanosine kinase 1716 E5KSL5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DUSP23 PRKD1 54935 Q9BVJ7 IP; LC-MS/MS
Huttlin EL , et al. 2015
FGL1 Fibrinogen-like protein 1 2267 Q08830 IP; LC-MS/MS
Huttlin EL , et al. 2015
FUNDC1 FUN14 domain containing 1 139341 Q8IVP5 IP/WB; Co-localization; in vitro binding assay
Wu W , et al. 2016
HAX1 HCLS1 associated protein X-1 10456 O00165 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIF1B kinesin family member 1B 23095 O60333 IP/WB; in vitro binding assay
Li S , et al. 2016
NUFIP1 Nuclear FMRP Interacting Protein 1 26747 Q9UHK0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 5530 Q08209 IP/WB; in vitro binding assay; in vitro phosphatase assay
Li S , et al. 2016
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 5566 P17612 in vivo kinase assay
Li S , et al. 2016
42615 septin 2 4735 Q15019 IP/WB; in vitro binding assay; Co-localization
Pagliuso A , et al. 2016

42615
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