Version 5.4
Homo sapiens Gene: KIAA0319
Summary
InnateDB Gene IDBG-65426.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIAA0319
Gene Name KIAA0319
Synonyms DYLX2; DYX2; NMIG
Species Homo sapiens
Ensembl Gene ENSG00000137261
Encoded Proteins
IDBP-65430
KIAA0319
IDBP-364258
KIAA0319
IDBP-585327
KIAA0319
IDBP-591736
KIAA0319
IDBP-603742
KIAA0319
IDBP-809082
KIAA0319
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:24544104-24646155
Strand Reverse strand
Band p22.3
Transcripts
ENST00000378214 ENSP00000367459
ENST00000430948 ENSP00000401086
ENST00000537886 ENSP00000439700
ENST00000543707 ENSP00000437656
ENST00000535378 ENSP00000442403
ENST00000616673 ENSP00000483665
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0001764 neuron migration
GO:2000171 negative regulation of dendrite development
Cellular Component
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031901 early endosome membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000006711
View Gene Order
ENSBTAG00000021903
Not yet available
Cross-References
SwissProt Q5VV43
TrEMBL
UniProt Splice Variant
Entrez Gene 9856
UniGene Hs.26441
RefSeq NM_001168376 XM_006715288 NM_001168374 NM_001168375 NM_001168377 NM_001252328 NM_014809 XM_005249504 XM_006715287
HUGO HGNC:21580
OMIM 609269
CCDS CCDS54969 CCDS34348 CCDS54970 CCDS54971 CCDS75409
HPRD 18713
IMGT
EMBL AB002317 AK295008 AK296310 AK296426 AL031230 AL512385 BC140821 BC144628 BC152460
GenPept AAI40822 AAI44629 AAI52461 BAA20777 BAG58068 BAG59008 BAG59087 CAH71730 CAI22601
RNA Seq Atlas 9856

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca