KIAA0319 Gene

Aliases
for KIAA0319 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC06M024601 GC06M024652 GC06M024655 GC06M024493

Summaries
for KIAA0319 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for KIAA0319 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000006.11  NT_007592.16  NC_018917.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0319

KIAA0319 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M024544:  view genomic region     (about GC identifiers)

Proteins
for KIAA0319 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for KIAA0319:

2E7M (3D)    

Explore the universe of human proteins at neXtProt for KIAA0319: NX_Q5VV43

Explore proteomics data for KIAA0319 at MOPED

Post-translational modifications: 

KIAA0319 Human Recombinant Protein Products:

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	antibodies-online peptides for KIAA0319

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	antibodies-online kits for KIAA0319 (3 products)

Domains /
Families
for KIAA0319 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q5VV43

Find genes that share domains with KIAA0319           About GenesLikeMe

Function
for KIAA0319 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 1 molecular function term:    About this table

genOway: Develop your customized and physiologically relevant rodent model for KIAA0319

miRNA Products:		miRTarBase miRNAs that target KIAA0319: hsa-mir-331-3p (MIRT043264), hsa-mir-1296-5p (MIRT036105), hsa-mir-324-3p (MIRT042820)
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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319

Localization
for KIAA0319 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
endosome	5
plasma membrane	5
extracellular	2
endoplasmic reticulum	1
lysosome	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for KIAA0319 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 2 biological process terms:    About this table

Drugs & Compounds
for KIAA0319 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for KIAA0319 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for KIAA0319 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KIAA0319 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGAACTATAT

About this image

Brain (Nervous System)    fully expand to see all 4 entries
Cerebral Cortex
Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast
Testis (Reproductive System)
Leydig Cells Testis Interstitium

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319

Orthologs
for KIAA0319 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for KIAA0319 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for KIAA0319 gene

KIAA0319L²  

1 SIMAP similar gene for KIAA0319 using alignment to 2 protein entries:     K0319_HUMAN (see all proteins):

KIAA0319L

Find genes that share paralogs with KIAA0319           About GenesLikeMe

Genomic Variants
for KIAA0319 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KIAA0319 (see all 2373)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1400381631,2	C	untested1	24485468(+)	TGTCCG/AAGTCC	12	/S /L	mis1		1		NA	4552
rs45044691,2,,4	C,F,H	untested1	24510723(+)	GGCTGC/TGCTAG	10	T A	mis1 ese3		11		NS EA NA EU	6869
rs1178084211,2	F	--	24465797(+)	ATGCCC/TGGCCC	6	--	ds5001		1		EA	120
rs1887379541,2		--	24465857(+)	AGTGTA/CAGTAT	6	--	ds5001		0	--	--	--	--
rs794267791,2	C,F	--	24465912(+)	GGCACG/CAGGGA	6	--	ds5001		1		WA	118
rs1149793211,2	C,F	--	24465982(+)	TGCTCA/GGTTCT	6	--	ds5001		1		NA	120
rs1929535471,2		--	24466024(+)	GCAGGA/GGATGT	6	--	ds5001		0	--	--	--	--
rs283607501,2	C,F	--	24466135(+)	GTAACA/GTAAGA	6	--	ds5001		1		WA	118
rs27446051,2	C,F,A,H	--	24466174(+)	AATGTG/AGATAT	6	--	ut31		24		NA NS EA WA CSA	2620
rs2006861851,2	C	--	24466232(+)	TTCAC-/ATGTTTC	6	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA0319 (24544332 - 24646383 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for KIAA0319:    About this table    

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

Human Gene Mutation Database (HGMD): KIAA0319

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing KIAA0319

DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0319

Disorders / Diseases
for KIAA0319 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for KIAA0319 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. (PubMed id 15717286)^{1, 2, 4} Cope N.... Williams J. (Am. J. Hum. Genet. 2005)
2. 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. (PubMed id 9205841)^{1, 2, 3} Nagase T.... Ohara O. (DNA Res. 1997)
3. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PubMed id 17033633)^{1, 4, 9} Harold D....Monaco A.P. (Mol. Psychiatry 2006)
4. Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. (PubMed id 18810304)^{1, 4, 9} Ludwig K.U....Hoffmann P. (J Neural Transm 2008)
5. Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. (PubMed id 20923822)^{1, 4} Niu N....Wang L. (Genome Res. 2010)
6. The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat. (PubMed id 19679544)^{1, 2} Peschansky V.J.... Rosen G.D. (Cereb. Cortex 2010)
7. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. (PubMed id 19588467)^{1, 4} Couto J.M....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
8. The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage. (PubMed id 20943657)^{1, 2} Velayos-Baeza A....Monaco A.P. (J. Biol. Chem. 2010)
9. Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. (PubMed id 20068590)^{1, 4} Lind P.A....Bates T.C. (Eur. J. Hum. Genet. 2010)
10. Association of attention-deficit/hyperactivity disorder with a candidate region for reading disabilities on chromosome 6p. (PubMed id 19362708)^{1, 4} Couto J.M....Barr C.L. (Biol. Psychiatry 2009)

External Searches for KIAA0319 gene

Genome Databases showing KIAA0319 gene

Other Databases showing KIAA0319 gene

Specialized Databases showing KIAA0319 gene

Products
for KIAA0319 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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