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KIAA0319 Gene(Protein Coding)

KIAA0319

GCID:
GC06M024544
GIFtS:
59
Genes Participants
UDN Logo

Aliases for KIAA0319 Gene

Aliases for KIAA0319 Gene

  • KIAA0319 2 3
  • Neuronal Migration 2 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. 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

Products:

  1. Regulatory Element

Regulatory Elements for KIAA0319 Gene

Enhancers for KIAA0319 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around KIAA0319 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KIAA0319 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for KIAA0319 Gene

Proteins for KIAA0319 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for KIAA0319 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for KIAA0319 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KIAA0319 Gene

Domains & Families for KIAA0319 Gene

Protein Domains for KIAA0319 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0319 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for KIAA0319 Gene

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

Animal Model Products

CRISPR Products

miRNA for KIAA0319 Gene

miRTarBase miRNAs that target KIAA0319

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005769 early endosome IDA 19419997
GO:0005886 plasma membrane IDA 19419997
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with KIAA0319: view

Pathways & Interactions for KIAA0319 Gene

SuperPathways for KIAA0319 Gene

PathCards logoMore details on SuperPathways for KIAA0319
No Data Available

Interacting Proteins for KIAA0319 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000367459%0d%0a9606.ENSP00000321221%0d%0a9606.ENSP00000269856%0d%0a9606.ENSP00000307298%0d%0a9606.ENSP00000440273%0d%0a
Selected Interacting proteins: Q5VV43-K0319_HUMAN ENSP00000367459 for KIAA0319 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for KIAA0319 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0319 Gene

Drugs & Compounds for KIAA0319 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KIAA0319 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KIAA0319 Gene

(13) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIAA0319 Gene

KIAA0319:
Representative Sequences:

CRISPR Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for KIAA0319 Gene

mRNA expression in normal human tissues for KIAA0319 Gene
mRNA expression by BioGPS for KIAA0319 GenemRNA expression by GTEx 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



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

Protein tissue co-expression partners for KIAA0319 Gene

- Elite partner

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
cow
(Bos Taurus)
 Mammalia KIAA0319 35
  • 86.42 (n)
  • 84.8 (a)
KIAA0319 36
  • 84 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KIAA0319 35
  • 81.47 (n)
  • 76.74 (a)
KIAA0319 36
  • 75 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia D130043K22Rik 35
  • 81.16 (n)
  • 77.03 (a)
D130043K22Rik 16
D130043K22Rik 36
  • 75 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia KIAA0319 35
  • 99.35 (n)
  • 98.83 (a)
KIAA0319 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia RGD1307443 35
  • 80.79 (n)
  • 76.43 (a)
oppossum
(Monodelphis domestica)
 Mammalia KIAA0319 36
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KIAA0319 35
  • 70.24 (n)
  • 68.15 (a)
KIAA0319 36
  • 66 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KIAA0319 36
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kiaa0319 35
  • 61 (n)
  • 56.96 (a)
zebrafish
(Danio rerio)
 Actinopterygii LOC794624 35
  • 55.1 (n)
  • 48.04 (a)
KIAA0319 36
  • 43 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG7565 37
  • 41 (a)
CG7565 35
  • 49.05 (n)
  • 43.18 (a)
CG7565 36
  • 30 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008639 35
  • 46.88 (n)
  • 41.32 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 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

(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
rs4576240 - 24,596,250(+) AAAGG(G/T)CAAGT intron-variant, reference, missense
rs4504469 - 24,588,656(+) GGCTG(C/G/T)GCTAG reference, missense
rs10946705 - 24,556,708(+) CATGG(C/G)CAGAA reference, missense
rs2744559 - 24,576,403(+) AGGAC(C/T)CAGGG reference, missense, utr-variant-5-prime
rs2744550 - 24,564,316(+) CACAC(C/T)GTGGT reference, missense

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

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

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

Disorders for KIAA0319 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dyslexia 2
  • dyslexia, susceptibility to, 2
dyslexia
reading disorder
  • specific reading disorder
neuronal migration disorders
  • malformations of cortical development, group ii
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. 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 48 67
  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
  3. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PMID: 17033633) Harold D. … Monaco A.P. (Mol. Psychiatry 2006) 3 23
  4. A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. (PMID: 15514892) Francks C. … Monaco A.P. (Am. J. Hum. Genet. 2004) 2 3
  5. 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

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