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Aliases for KIAA0319 Gene

Aliases for KIAA0319 Gene

  • KIAA0319 2 3
  • Neuronal Migration 2 3
  • DYLX2 3 6
  • DYX2 3 6
  • Dyslexia-Associated Protein KIAA0319 3
  • Dyslexia Susceptibility 2 3
  • NMIG 3
  • DLX2 6

External Ids for KIAA0319 Gene

Summaries for KIAA0319 Gene

Entrez Gene Summary for KIAA0319 Gene

  • 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]

GeneCards Summary for KIAA0319 Gene

KIAA0319 (KIAA0319) is a Protein Coding gene. Diseases associated with KIAA0319 include dyslexia 2 and dyslexia. Among its related pathways are SIDS Susceptibility Pathways. An important paralog of this gene is KIAA0319L.

UniProtKB/Swiss-Prot for KIAA0319 Gene

  • 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.

Gene Wiki entry for KIAA0319 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0319 Gene

Genomics for KIAA0319 Gene

Genomic Location for KIAA0319 Gene

Start:
24,544,103 bp from pter
End:
24,646,155 bp from pter
Size:
102,053 bases
Orientation:
Minus strand

Genomic View for KIAA0319 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA0319 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0319 Gene

Regulatory Elements for KIAA0319 Gene

Proteins for KIAA0319 Gene

  • Protein details for KIAA0319 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VV43-K0319_HUMAN
    Recommended name:
    Dyslexia-associated protein KIAA0319
    Protein Accession:
    Q5VV43
    Secondary Accessions:
    • A7MD37
    • B2RTU7
    • B4DHA7
    • B4DK75
    • B7ZML3
    • F5H123
    • Q9UJC8
    • Q9Y4G7

    Protein attributes for KIAA0319 Gene

    Size:
    1072 amino acids
    Molecular mass:
    117763 Da
    Quaternary structure:
    • Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.
    SequenceCaution:
    • Sequence=BAA20777.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIAA0319 Gene

    Alternative splice isoforms for KIAA0319 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0319 Gene

Proteomics data for KIAA0319 Gene at MOPED

Post-translational modifications for KIAA0319 Gene

  • N-glycosylated.
  • O-glycosylated.
  • Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn196, Asn219, Asn262, Asn394, Asn421, Asn498, Asn513, Asn536, Asn551, and Asn733

No data available for DME Specific Peptides for KIAA0319 Gene

Domains for KIAA0319 Gene

Protein Domains for KIAA0319 Gene

UniProtKB/Swiss-Prot:

K0319_HUMAN
Domain:
  • Contains 1 MANSC domain.:
    • Q5VV43
  • Contains 5 PKD domains.:
    • Q5VV43
genes like me logo Genes that share domains with KIAA0319: view

No data available for Gene Families for KIAA0319 Gene

Function for KIAA0319 Gene

Molecular function for KIAA0319 Gene

GENATLAS Biochemistry: cDNA sequence,expressed in brain,>100kDa,related to C elegans twitchin
UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for KIAA0319 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 19419997
genes like me logo Genes that share ontologies with KIAA0319: view

Phenotypes for KIAA0319 Gene

GenomeRNAi human phenotypes for KIAA0319:
genes like me logo Genes that share phenotypes with KIAA0319: view

miRNA for KIAA0319 Gene

miRTarBase miRNAs that target KIAA0319

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA0319 Gene

Localization for KIAA0319 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0319 Gene

Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0319 Gene COMPARTMENTS Subcellular localization image for KIAA0319 gene
Compartment Confidence
endosome 5
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIAA0319 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 19419997
GO:0005886 plasma membrane IDA 19419997
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with KIAA0319: view

Pathways for KIAA0319 Gene

SuperPathways for KIAA0319 Gene

genes like me logo Genes that share pathways with KIAA0319: view

Pathways by source for KIAA0319 Gene

1 BioSystems pathway for KIAA0319 Gene

Interacting Proteins for KIAA0319 Gene

Gene Ontology (GO) - Biological Process for KIAA0319 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IGI 19679544
GO:2000171 negative regulation of dendrite development IGI 19679544
genes like me logo Genes that share ontologies with KIAA0319: view

Transcripts for KIAA0319 Gene

Unigene Clusters for KIAA0319 Gene

KIAA0319:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0319 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2: - - -
SP3:
SP4: -

Relevant External Links for KIAA0319 Gene

GeneLoc Exon Structure for
KIAA0319
ECgene alternative splicing isoforms for
KIAA0319

Expression for KIAA0319 Gene

mRNA expression in normal human tissues for KIAA0319 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA0319 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.5), Brain - Anterior cingulate cortex (BA24) (5.2), Brain - Cortex (4.6), Brain - Cerebellar Hemisphere (4.3), and Brain - Nucleus accumbens (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KIAA0319 Gene

SOURCE GeneReport for Unigene cluster for KIAA0319 Gene Hs.26441

mRNA Expression by UniProt/SwissProt for KIAA0319 Gene

Q5VV43-K0319_HUMAN
Tissue specificity: Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.
genes like me logo Genes that share expressions with KIAA0319: view

Orthologs for KIAA0319 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0319 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0319 36
  • 99.35 (n)
  • 98.83 (a)
KIAA0319 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0319 36
  • 86.42 (n)
  • 84.8 (a)
KIAA0319 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0319 36
  • 81.47 (n)
  • 76.74 (a)
KIAA0319 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D130043K22Rik 36
  • 81.16 (n)
  • 77.03 (a)
D130043K22Rik 16
D130043K22Rik 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0319 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1307443 36
  • 80.79 (n)
  • 76.43 (a)
chicken
(Gallus gallus)
Aves KIAA0319 36
  • 70.24 (n)
  • 68.15 (a)
KIAA0319 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0319 37
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0319 36
  • 61 (n)
  • 56.96 (a)
zebrafish
(Danio rerio)
Actinopterygii KIAA0319 37
  • 43 (a)
OneToOne
LOC794624 36
  • 55.1 (n)
  • 48.04 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008639 36
  • 46.88 (n)
  • 41.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7565 36
  • 49.05 (n)
  • 43.18 (a)
CG7565 37
  • 30 (a)
OneToMany
CG7565 38
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
Species with no ortholog for KIAA0319:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA0319 Gene

ENSEMBL:
Gene Tree for KIAA0319 (if available)
TreeFam:
Gene Tree for KIAA0319 (if available)

Paralogs for KIAA0319 Gene

Paralogs for KIAA0319 Gene

Selected SIMAP similar genes for KIAA0319 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KIAA0319: view

Variants for KIAA0319 Gene

Sequence variations from dbSNP and Humsavar for KIAA0319 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs699461 -- 24,582,634(+) CTTAC(A/G)GGAAA intron-variant
rs699462 -- 24,551,103(-) TATTC(C/G)GGAGG intron-variant
rs699463 -- 24,544,675(+) AGCCT(A/G)TGAGC utr-variant-3-prime
rs730860 -- 24,632,199(-) ATTAT(A/T)AACCA intron-variant
rs761100 -- 24,632,414(-) TGTTT(G/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0319 Gene

Variant ID Type Subtype PubMed ID
esv34020 CNV Loss 18971310
esv2731713 CNV Deletion 23290073
esv2731714 CNV Deletion 23290073

Relevant External Links for KIAA0319 Gene

HapMap Linkage Disequilibrium report
KIAA0319
Human Gene Mutation Database (HGMD)
KIAA0319

Disorders for KIAA0319 Gene

(1) OMIM Diseases for KIAA0319 Gene (609269)

UniProtKB/Swiss-Prot

K0319_HUMAN
  • Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269 PubMed:16600991}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KIAA0319 Gene

Relevant External Links for KIAA0319

Genetic Association Database (GAD)
KIAA0319
Human Genome Epidemiology (HuGE) Navigator
KIAA0319
genes like me logo Genes that share disorders with KIAA0319: view

Publications for KIAA0319 Gene

  1. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PMID: 17033633) Harold D. … Monaco A.P. (Mol. Psychiatry 2006) 3 23 49
  2. Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. (PMID: 18810304) Ludwig K.U. … Hoffmann P. (J Neural Transm 2008) 3 23 49
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4
  4. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. (PMID: 15717286) Cope N. … Williams J. (Am. J. Hum. Genet. 2005) 3 4 49
  5. A transcription map of the 6p22.3 reading disability locus identifying candidate genes. (PMID: 12834540) Londin E.R. … Gruen J.R. (BMC Genomics 2003) 3 4

Products for KIAA0319 Gene

  • antibodies-online peptides for KIAA0319
  • antibodies-online antibodies for KIAA0319
  • antibodies-online kits for KIAA0319

Sources for KIAA0319 Gene

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