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Aliases for KIAA0319 Gene

Aliases for KIAA0319 Gene

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

External Ids for KIAA0319 Gene

Previous GeneCards Identifiers for KIAA0319 Gene

  • GC06M024601
  • GC06M024652
  • GC06M024655
  • GC06M024493

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 Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include calcium ion binding. 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

Regulatory Elements for KIAA0319 Gene

Enhancers for KIAA0319 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F024645 0.4 ENCODE 16.6 0.0 -17 1.9 HDGF ZNF133 ARID4B SIN3A FEZF1 ZNF2 ZNF48 GLIS2 FOS SP3 ACOT13 KIAA0319 TDP2 C6orf62 KRT8P43
GH06F024583 1.2 Ensembl ENCODE 16.2 +61.9 61894 2.0 PKNOX1 FEZF1 ZNF2 ZNF121 ZNF143 ZNF207 KLF7 ZNF263 SP3 MXD4 ACOT13 ENSG00000230372 ENSG00000223623 LOC101928663 SPTLC1P2 KIAA0319 TDP2 ALDH5A1 GPLD1 PIR39702
GH06F024657 1 FANTOM5 Ensembl ENCODE 12.9 -17.6 -17582 11.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 C6orf62 NUP50P2 TDP2 KIAA0319 ACOT13
GH06F024581 0.2 ENCODE 11.1 +64.9 64915 0.1 CTCF ARID4B ZSCAN9 RAD21 RFX5 TEAD3 ZNF143 SMC3 ZNF600 HOMEZ TDP2 ACOT13 KIAA0319 ALDH5A1 GPLD1 PIR60469 PIR52732
GH06F024683 0.5 ENCODE 11 -38.1 -38119 1.9 NFIL3 ARID1B JUND SMARCA4 TAL1 IKZF1 DPF2 MIXL1 TDP2 KIAA0319 GMNN ENSG00000272345 ACOT13
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KIAA0319 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0319 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001213678 172 1201 HDGF ZNF133 ARID4B SIN3A FEZF1 ZNF2 ZNF48 GLIS2 FOS SP3

Genomic Location for KIAA0319 Gene

Chromosome:
6
Start:
24,544,104 bp from pter
End:
24,646,172 bp from pter
Size:
102,069 bases
Orientation:
Minus strand

Genomic View for KIAA0319 Gene

Genes around KIAA0319 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0319 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0319 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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.
  • Glycosylation at Asn 196, Asn 219, Asn 262, Asn 394, Asn 421, Asn 498, Asn 513, Asn 536, Asn 551, and Asn 733
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0319 Gene

Domains & Families for KIAA0319 Gene

Suggested Antigen Peptide Sequences for KIAA0319 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VV43

UniProtKB/Swiss-Prot:

K0319_HUMAN :
  • Contains 1 MANSC domain.
Domain:
  • Contains 1 MANSC domain.
  • Contains 5 PKD domains.
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:0005515 protein binding IPI 19419997
genes like me logo Genes that share ontologies with KIAA0319: view
genes like me logo Genes that share phenotypes with KIAA0319: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:18063668}.

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
vacuole 1

Gene Ontology (GO) - Cellular Components for KIAA0319 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 19419997
GO:0005886 plasma membrane IEA,IDA 19419997
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA0319: view

Pathways & Interactions for KIAA0319 Gene

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

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:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:2000171 negative regulation of dendrite development IGI 19679544
genes like me logo Genes that share ontologies with KIAA0319: view

No data available for SIGNOR curated interactions for KIAA0319 Gene

Transcripts for KIAA0319 Gene

Unigene Clusters for KIAA0319 Gene

KIAA0319:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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) (x5.5), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Cortex (x4.6), Brain - Cerebellar Hemisphere (x4.3), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for KIAA0319 Gene

This gene is overexpressed in Pancreatic juice (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA0319 Gene



Protein tissue co-expression partners for KIAA0319 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA0319 Gene:

KIAA0319

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 expression patterns with KIAA0319: view

Primer Products

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 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia KIAA0319 34 35
  • 86.42 (n)
dog
(Canis familiaris)
Mammalia KIAA0319 34 35
  • 81.47 (n)
mouse
(Mus musculus)
Mammalia D130043K22Rik 34 16 35
  • 81.16 (n)
rat
(Rattus norvegicus)
Mammalia RGD1307443 34
  • 80.79 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA0319 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0319 34 35
  • 70.24 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0319 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0319 34
  • 61 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC794624 34
  • 55.1 (n)
KIAA0319 35
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7565 36 34 35
  • 49.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008639 34
  • 46.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
Species where no ortholog for KIAA0319 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs10456042 -- 24,565,146(+) TACTC(A/G)GGAGG intron-variant
rs10456043 -- 24,633,537(+) GGAGG(A/G)TCACT intron-variant
rs10456306 -- 24,549,813(+) TGGGG(C/T)GGTGA intron-variant
rs10456307 -- 24,566,411(+) TGAAT(A/T)AGCCA intron-variant
rs10456308 -- 24,580,180(+) GTGAA(A/G)ATGTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2731713 CNV deletion 23290073
esv2731714 CNV deletion 23290073
esv34020 CNV loss 18971310
nsv601164 CNV gain 21841781
nsv601165 CNV loss 21841781
nsv981110 CNV duplication 23825009

Variation tolerance for KIAA0319 Gene

Residual Variation Intolerance Score: 78.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.70; 83.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0319 Gene

Human Gene Mutation Database (HGMD)
KIAA0319
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0319

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0319 Gene

Disorders for KIAA0319 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KIAA0319 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyslexia 2
  • specific reading disability type 2
dyslexia
reading disorder
  • dyslexia
specific developmental disorder
speech and communication disorders
  • communication disorder
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for KIAA0319

Genetic Association Database (GAD)
KIAA0319
Human Genome Epidemiology (HuGE) Navigator
KIAA0319
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0319
genes like me logo Genes that share disorders with KIAA0319: view

No data available for Genatlas for KIAA0319 Gene

Publications for KIAA0319 Gene

  1. 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 22 46 64
  2. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PMID: 17033633) Harold D. … Monaco A.P. (Mol. Psychiatry 2006) 3 22 46 64
  3. 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 46 64
  4. 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 64
  5. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. (PMID: 19588467) Couto J.M. … Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for KIAA0319 Gene

Sources for KIAA0319 Gene

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