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Tbio
KIAA0319
Dyslexia-associated protein KIAA0319

Protein Summary
Description
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000378214
  • ENSP00000367459
  • ENSG00000137261
  • ENST00000430948
  • ENSP00000401086
  • ENST00000535378
  • ENSP00000442403
  • ENST00000537886
  • ENSP00000439700
  • ENST00000543707
  • ENSP00000437656

Symbol
  • AAVR
  • DYX2
  • NMIG
  • DYLX2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.85
histone modification site profile
0.78
kinase perturbation
0.71
cell type or tissue
0.66
cellular component
0.66


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 77.01   (req: < 5)
Gene RIFs: 39   (req: <= 3)
Antibodies: 109   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 77.01   (req: >= 5)
Gene RIFs: 39   (req: > 3)
Antibodies: 109   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (178)
AP2M1
Tbio
Novelty:  0.00769368
Score:  0.951
Data Source:  STRINGDB
CLTC
Tbio
Novelty:  0.00256674
Score:  0.944
Data Source:  STRINGDB
RAB5A
Tbio
Family:  Enzyme
Novelty:  0.00111347
Score:  0.928
Data Source:  STRINGDB
DCDC2
Tbio
Novelty:  0.00395729
Score:  0.926
Data Source:  STRINGDB
DNAAF4
Tbio
Novelty:  0.01730685
Score:  0.923
Data Source:  STRINGDB
SNAP91
Tbio
Novelty:  0.0083886
Score:  0.917
Data Source:  STRINGDB
SH3GL2
Tbio
Novelty:  0.0188955
Score:  0.913
Data Source:  STRINGDB
CLTCL1
Tbio
Novelty:  0.05667807
Score:  0.91
Data Source:  STRINGDB
SYT1
Tbio
Novelty:  0.00176103
Score:  0.909
Data Source:  STRINGDB
DNM3
Tbio
Novelty:  0.02365643
Score:  0.909
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (4)
Cargo recognition for clathrin-mediated endocytosis (R-HSA-8856825)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cargo recognition for clathrin-mediated endocytosis
Reactome
Clathrin-mediated endocytosis
Reactome
Membrane Trafficking
Reactome
Vesicle-mediated transport
Name
Explore in Pharos
Explore in Source
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Membrane Trafficking
Vesicle-mediated transport
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (10)
Find Similar Targets
Items per page:
10
1 – 7 of 7
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Disease Associations ()
No disease associations found
GWAS Traits (14)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
5
9
7
18.4
99.7
liver enzyme measurement
1
1
1
50.6
serum gamma-glutamyl transferase measurement
1
1
1
49.5
protein measurement
1
1
1
49.5
serum albumin measurement
1
1
1
49.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
7
18.4
99.7
liver enzyme measurement
1
50.6
serum gamma-glutamyl transferase measurement
1
49.5
protein measurement
1
49.5
serum albumin measurement
1
49.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
KIAA0319
VGNC:3259
462474
Macaque
KIAA0319 ortholog
715105
Mouse
MGI:3036268
210108
Rat
RGD:1307443
361244
Dog
KIAA0319
VGNC:42343
478736
Species
Name
OMA
EggNOG
Inparanoid
Chimp
KIAA0319
Macaque
KIAA0319 ortholog
Mouse
Rat
Dog
KIAA0319
Publication Statistics
PubMed Score 77.01
PubMed score by year
PubTator Score 60.76
PubTator score by year
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Related Publications
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0 of 0
PMID
Year
Title