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 va... See more...

Aliases for KIAA0319 Gene

Aliases for KIAA0319 Gene

  • KIAA0319 2 3 5
  • Dyslexia-Associated Protein KIAA0319 3 4
  • Neuronal Migration 2 3
  • NMIG 2 3
  • Dyslexia Susceptibility 2 3
  • AAV Receptor 3
  • DYLX2 3
  • AAVR 3
  • DYX2 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. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is KIAA0319L.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA0319 Gene

Genomics for KIAA0319 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA0319 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0319 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0319

Top Transcription factor binding sites by QIAGEN in the KIAA0319 gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-4alpha1
  • POU2F1
  • POU2F1a
  • STAT5B

Genomic Locations for KIAA0319 Gene

Latest Assembly
chr6:24,540,128-24,646,191
(GRCh38/hg38)
Size:
106,064 bases
Orientation:
Minus strand

Previous Assembly
chr6:24,544,335-24,646,419
(GRCh37/hg19 by Entrez Gene)
Size:
102,085 bases
Orientation:
Minus strand

chr6:24,544,332-24,646,383
(GRCh37/hg19 by Ensembl)
Size:
102,052 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=Extended N-terminus.; 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 Asn196, Asn219, Asn262, Asn394, Asn421, Asn498, Asn513, Asn536, Asn551, and Asn733
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0319 Gene

Domains & Families for KIAA0319 Gene

Gene Families for KIAA0319 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for KIAA0319 Gene

InterPro:
Blocks:
  • Seven cysteines, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0319 Gene

GenScript: Design optimal peptide antigens:
  • KIAA0319 protein (B7ZML3_HUMAN)
  • Dyslexia-associated protein KIAA0319 (K0319_HUMAN)
genes like me logo Genes that share domains with KIAA0319: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA0319 Gene

Function for KIAA0319 Gene

Molecular function for KIAA0319 Gene

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.
GENATLAS Biochemistry:
cDNA sequence,expressed in brain,>100kDa,related to C elegans twitchin

Phenotypes From GWAS Catalog for KIAA0319 Gene

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 Models for KIAA0319 Gene

MGI Knock Outs for KIAA0319:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0319

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA0319 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS --
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:0010996 response to auditory stimulus IEA --
GO:0030517 negative regulation of axon extension IMP 28334068
genes like me logo Genes that share ontologies with KIAA0319: view

No data available for SIGNOR curated interactions for KIAA0319 Gene

Drugs & Compounds for KIAA0319 Gene

No Compound Related Data Available

Transcripts for KIAA0319 Gene

mRNA/cDNA for KIAA0319 Gene

14 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0319

Clone products for research

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

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 and MOPED for KIAA0319 Gene



Protein tissue co-expression partners for KIAA0319 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for KIAA0319 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KIAA0319: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0319 Gene

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 30 31
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA0319 30 31
  • 86.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0319 30 31
  • 81.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia D130043K22Rik 30 17 31
  • 81.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1307443 30
  • 80.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia KIAA0319 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0319 30 31
  • 70.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0319 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0319 30
  • 61 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC794624 30
  • 55.1 (n)
KIAA0319 31
  • 43 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7565 30 31 32
  • 49.05 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008639 30
  • 46.88 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for KIAA0319 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0319: view image

Paralogs for KIAA0319 Gene

(1) SIMAP similar genes for KIAA0319 Gene using alignment to 2 proteins:

  • K0319_HUMAN
  • L8E9P4_HUMAN
genes like me logo Genes that share paralogs with KIAA0319: view

Variants for KIAA0319 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0319 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs10946705 Benign: not provided. - 24,556,708(-) C/Gp.Gly919Ala
NM_014809.4(KIAA0319):c.2756G>C (p.Gly919Ala)
MISSENSE
rs114195393 Benign: not provided 24,579,869(-) A/G
NM_014809.4(KIAA0319):c.1361T>C (p.Ile454Thr)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs117692893 Benign: not provided 24,595,884(-) A/T
NM_014809.4(KIAA0319):c.790T>A (p.Ser264Thr)
MISSENSE
rs138160539 Likely Benign: not provided 24,568,813(-) C/T
NM_014809.4(KIAA0319):c.2108G>A (p.Ser703Asn)
MISSENSE
rs75674723 Benign: not provided 24,596,308(-) G/A
NM_014809.4(KIAA0319):c.366C>T (p.Asn122=)
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KIAA0319 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KIAA0319 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KIAA0319 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KIAA0319 Gene - From: OMI, COP, and GCD

Disorder Aliases PubMed IDs
dyslexia 2
  • dyslexia, susceptibility to, 2
dyslexia
speech and communication disorders
  • communication disorder
reading disorder
  • reading
specific language impairment
  • language impairment, specific
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for KIAA0319

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 KU … Hoffmann P (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 23 41
  2. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PMID: 17033633) Harold D … Monaco AP (Molecular psychiatry 2006) 3 23 41
  3. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. (PMID: 15717286) Cope N … Williams J (American journal of human genetics 2005) 3 4 41
  4. The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling. (PMID: 28334068) Franquinho F … Sousa MM (Cerebral cortex (New York, N.Y. : 1991) 2017) 2 3
  5. Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. (PMID: 29045729) Guidi LG … Molnár Z (Cerebral cortex (New York, N.Y. : 1991) 2017) 2 3

Products for KIAA0319 Gene

Sources for KIAA0319 Gene