geno logo
     HELP     Sign In

Quick Links

TOOLS
Search

Relevance to Autism

A de novo missense variant in the KLC2 gene was identified in an autistic proband (Awadalla et al., 2010).

Molecular Function

Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN388R001 
 missense_variant 
 c.1046G>C 
 p.Arg349Pro 
 De novo 
  
  
 GEN388R002 
 missense_variant 
 c.838G>C 
 p.Ala280Pro 
 De novo 
  
  
 GEN388R003 
 missense_variant 
 c.380T>C 
 p.Val127Ala 
 De novo 
  
  
 GEN388R004 
 splice_region_variant 
 c.1603-3C>A 
  
 De novo 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 1
 

No Animal Model Data Available





Download KLC2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AZIN1 antizyme inhibitor 1 51582 O14977 IP; LC-MS/MS
Huttlin EL , et al. 2015
C19ORF46 Nesprin-4 163183 Q8N205-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal) 55584 Q9UGM1 IP; LC-MS/MS
Huttlin EL , et al. 2015
COG6 component of oligomeric golgi complex 6 57511 Q9Y2V7 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSTN1 calsyntenin 1 22883 O94985 IP/WB; in vitro binding assay
Yip YY , et al. 2016
DISC1 disrupted in schizophrenia 1 307940 Q810H6 IP/WB
Taya S , et al. 2007
DTNBP1 dystrobrevin binding protein 1 84062 Q96EV8 IP; LC-MS/MS
Huttlin EL , et al. 2015
EID1 EP300 interacting inhibitor of differentiation 1 23741 Q9Y6B2 IP; LC-MS/MS
Huttlin EL , et al. 2015
EXOC3 exocyst complex component 3 11336 O60645 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAT1 FAT tumor suppressor homolog 1 (Drosophila) 14107 F2Z4A3 IP; LC-MS/MS
Badouel C , et al. 2015
KLC1 kinesin light chain 1 3831 Q07866 IP; LC-MS/MS
Huttlin EL , et al. 2015
KPTN kaptin (actin binding protein) 11133 Q9Y664 IP; LC-MS/MS
Huttlin EL , et al. 2015
MOCS3 molybdenum cofactor synthesis 3 27304 O95396 IP; LC-MS/MS
Huttlin EL , et al. 2015
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 254827 Q58DX5 IP; LC-MS/MS
Huttlin EL , et al. 2015
NUP43 nucleoporin 43kDa 348995 Q8NFH3 IP; LC-MS/MS
Huttlin EL , et al. 2015
PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 23207 Q8IWE5 IP/WB; in vitro binding assay; Fluorescence Polarization (FP)
Yip YY , et al. 2016
SERPINB2 Plasminogen activator inhibitor 2 5055 P05120 IP; LC-MS/MS
Huttlin EL , et al. 2015
SH3KBP1 SH3-domain kinase binding protein 1 30011 Q96B97 IP; LC-MS/MS
Huttlin EL , et al. 2015
THEM4 Acyl-coenzyme A thioesterase THEM4 117145 Q5T1C6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRAK2 trafficking protein, kinesin binding 2 66008 O60296 IP; LC-MS/MS
Huttlin EL , et al. 2015

KLC1
HELP
Copyright © 2017 MindSpec, Inc.