Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA0319 Gene

protein-coding GIFtS: 57
GCID: GC06M024493

KIAA0319

7 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
KIAA0319¹ ²
DYLX2² ⁵
DYX2² ⁵
Dyslexia Susceptibility 2²
Dyslexia-Associated Protein KIAA0319²
DLX2⁵

External Ids:	HGNC: 21580¹	Entrez Gene: 9856²	Ensembl: ENSG00000137261⁷	OMIM: 609269⁵	UniProtKB: Q5VV43³

Export aliases for KIAA0319 gene to outside databases

Previous GC identifers: GC06M024601 GC06M024652 GC06M024655

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 articulation disorder, and dyslexia. GO annotations related to this gene include protein binding. An important paralog of this gene is KIAA0319L.

UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43

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 Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NT_007592.15 NC_018917.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA0319 gene promoter:
STAT5B POU2F1 AML1a FOXJ2 (long isoform) POU2F1a FOXJ2 HNF-4alpha1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA0319

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0319

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.3-p22.2 Ensembl cytogenetic band: 6p22.3 HGNC cytogenetic band: 6p22.3-p22.2

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

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M024493: view genomic region (about GC identifiers)

Start:	24,544,332 bp from pter	End:	24,646,383 bp from pter
Size:	102,052 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43 (See protein sequence)

Recommended Name: Dyslexia-associated protein KIAA0319 precursor

Size: 1072 amino acids; 117763 Da

Subunit: Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis

Subcellular location: 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

Developmental stage: Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days

post-fertilization fetal brain

Sequence caution: Sequence=BAA20777.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for KIAA0319:

2E7M (3D)

Secondary accessions: A7MD37 B2RTU7 B4DHA7 B4DK75 B7ZML3 F5H123 Q9UJC8 Q9Y4G7

Alternative splicing: 4 isoforms: Q5VV43-1 Q5VV43-2 Q5VV43-3 Q5VV43-4 (No experimental confirmation available)

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

Explore proteomics data for KIAA0319 at MOPED

Post-translational modifications:

UniProtKB: N-glycosylated

UniProtKB: O-glycosylated

UniProtKB: 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

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q5VV43

KIAA0319 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (6 alternative transcripts):

NP_001161846.1 NP_001161847.1 NP_001161848.1 NP_001161849.1 NP_001239257.1 NP_055624.2

ENSEMBL proteins:

ENSP00000367459 ENSP00000439700 ENSP00000437656 ENSP00000442403 ENSP00000401086

Human Recombinant Protein Products for KIAA0319:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for KIAA0319
	GenScript Custom Purified and Recombinant Proteins Services for KIAA0319
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005769	early endosome	IDA	19419997
GO:0005886	plasma membrane	IDA	19419997
GO:0016021	integral to membrane	IEA	--
GO:0031901	early endosome membrane	IEA	--

KIAA0319 for ontologies About GeneDecksing

KIAA0319 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for KIAA0319
	GenScript Custom Superior Antibodies Services for KIAA0319
	Novus Biologicals KIAA0319 Antibodies
	Abcam antibodies for KIAA0319
	Browse Antibodies at Cloud-Clone Corp.
	Search ThermoFisher Antibodies for KIAA0319
	Search LSBio for Antibodies for KIAA0319

Assay Products for KIAA0319:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for KIAA0319
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for KIAA0319
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/6 InterPro protein domains (see all 6):

IPR022409 PKD/Chitinase_dom

IPR002859 PKD/REJ-like

IPR000601 PKD_dom

IPR003961 Fibronectin_type3

IPR011106 MANSC_N

Graphical View of Domain Structure for InterPro Entry Q5VV43

ProtoNet protein and cluster: Q5VV43

1 Blocks protein domain: IPB011106 Seven cysteines

UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43

Similarity: Contains 1 MANSC domain

Similarity: Contains 5 PKD domains

KIAA0319 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: K0319_HUMAN, Q5VV43

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 entry for KIAA0319:

cDNA sequence,expressed in brain,>100kDa,related to C elegans twitchin

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19419997

KIAA0319 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for KIAA0319:

Increased G1 DNA content

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA0319

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIAA0319

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA0319

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIAA0319

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIAA0319
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0319:
		hsa-miR-633 hsa-miR-205* hsa-miR-4290 hsa-miR-548aa
		SwitchGear 3'UTR luciferase reporter plasmid: KIAA0319 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for KIAA0319
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0319

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for KIAA0319
			Sirion Biotech Customized adenovirus for overexpression of KIAA0319

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for KIAA0319 (see all 19) OriGene ORF clones in mouse, rat for KIAA0319 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): KIAA0319 (NM_001168375)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0319
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0319
		Sirion Biotech Customized lentivirus for stable overexpression of KIAA0319 Customized lentivirus expression plasmids for stable overexpression of KIAA0319

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KIAA0319
		Search LifeMap BioReagents cell lines for KIAA0319

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KIAA0319

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for KIAA0319 (Q5VV43³ ENSP00000367459⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH2B1	Q9NRF2³, ENSP00000337163⁴	I2D: score=3 STRING: ENSP00000337163
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
FEM1B	Q9UK73³, ENSP00000307298⁴	I2D: score=3 STRING: ENSP00000307298
FEM1A	ENSP00000269856⁴	STRING: ENSP00000269856

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IGI	19679544
GO:2000171	negative regulation of dendrite development	IGI	19679544

KIAA0319 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIAA0319 (K0319)

Search CenterWatch for drugs/clinical trials and news about KIAA0319 / K0319

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIAA0319 gene (6 alternative transcripts):

NM_001168374.1 NM_001168375.1 NM_001168376.1 NM_001168377.1 NM_001252328.1 NM_014809.3

Unigene Cluster for KIAA0319:

KIAA0319

Hs.26441 [show with all ESTs]

Unigene Representative Sequence: NM_001168374

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378214 ENST00000537886(uc011djr.1) ENST00000543707 ENST00000535378(uc011djo.2 uc003neh.1 uc011djq.1)

ENST00000430948(uc010jpt.1 uc011djp.2)

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIAA0319
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0319:
		hsa-miR-633 hsa-miR-205* hsa-miR-4290 hsa-miR-548aa
		SwitchGear 3'UTR luciferase reporter plasmid: KIAA0319 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for KIAA0319
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0319

Clone Products:		OriGene clones in human, mouse for KIAA0319 (see all 19) OriGene ORF clones in mouse, rat for KIAA0319 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): KIAA0319 (NM_001168375)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0319
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0319
		Sirion Biotech Customized lentivirus for stable overexpression of KIAA0319 Customized lentivirus expression plasmids for stable overexpression of KIAA0319

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0319
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat KIAA0319
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0319
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0319

Additional mRNA sequence:

AB002317.1 AF086065.1 AK295008.1 AK296310.1 AK296426.1 AK307503.1 AK310289.1 BC140821.1

BC144628.1 BC152460.1

2 DOTS entries:

DT.441367 DT.121375996

24/35 AceView cDNA sequences (see all 35):

BQ267742 BM793061 T24487 AI369208 Z40603 BU615315 AU130115 BX101658

Z44817 CB306587 N50160 BQ272350 BX646625 AF086065 BV173714 R61546

AB002317 BM724053 AL044313 AW025772 AI683434 R20983 AA907928 BF753409

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0319 About this scheme

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:									-

ECgene alternative splicing isoforms for KIAA0319

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIAA0319 expression in normal human tissues (normalized intensities) KIAA0319 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGAACTATAT

About this image

KIAA0319 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/25 selected tissues (see all 25) fully expand


Brain (Nervous System) fully expand to see all 5 entries
Cerebral Cortex
superior temporal gyrus

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Uterus (Reproductive System) fully expand to see all 4 entries
uterus, post-menopause ; glandular cells

Colon (Gastrointestinal Tract) fully expand to see all 3 entries
colon ; peripheral nerve/ganglion

Thyroid (Endocrine System) fully expand to see all 2 entries
thyroid gland ; glandular cells

See KIAA0319 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0319

SOURCE GeneReport for Unigene cluster: Hs.26441

UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43

Tissue specificity: Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in

brain cortex, putamen, amygdala, hippocampus and cerebellum

SABiosciences Custom PCR Arrays for KIAA0319

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0319
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat KIAA0319
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0319
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0319

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KIAA0319 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	D130043K22Rik^{1 , 5}	RIKEN cDNA D130043K22 gene^{1, 5}	80.92(n)¹ 76.66(a)¹		13 (10.72 cM)⁵ 210108¹ NM_001081051.1¹ NP_001074520.1¹ 24845135⁵
chicken (Gallus gallus)	Aves	KIAA0319¹	KIAA0319	70.12(n) 67.9(a)		428476 XM_426033.3 XP_426033.3
lizard (Anolis carolinensis)	Reptilia	KIAA0319⁶	Uncharacterized protein	61(a)	1 ↔ 1	4(53998635-54024678)
zebrafish (Danio rerio)	Actinopterygii	LOC794624¹	dyslexia-associated protein KIAA0319-like	54.54(n) 47.7(a)		794624 XM_001334594.4 XP_001334630.4
fruit fly (Drosophila melanogaster)	Insecta	CG7565^{1 , 3}	chitinase³ CG7565¹	41(a)³ 48.53(n)¹ 42.03(a)¹		66B5³ 38893¹ NM_139914.3¹ NP_648171.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KIAA0319 gene

KIAA0319L² LRP11²

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

KIAA0319L

KIAA0319 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140038163^1,2	C	untested¹	24485468(+)	`TGTCCG/AAGTCC`	12	/S /L	mis¹		1		NA	4552
rs4504469^1,2,4	C,F,H	untested¹	24510723(+)	`GGCTGC/TGCTAG`	10	T A	mis¹ ese³		11		NS EA NA EU	6869
rs117808421^1,2	F	--	24465797(+)	`ATGCCC/TGGCCC`	6	--	ds500¹		1		EA	120
rs188737954^1,2		--	24465857(+)	`AGTGTA/CAGTAT`	6	--	ds500¹		0	--	--	--	--
rs79426779^1,2	C,F	--	24465912(+)	`GGCACG/CAGGGA`	6	--	ds500¹		1		WA	118
rs114979321^1,2	C,F	--	24465982(+)	`TGCTCA/GGTTCT`	6	--	ds500¹		1		NA	120
rs192953547^1,2		--	24466024(+)	`GCAGGA/GGATGT`	6	--	ds500¹		0	--	--	--	--
rs28360750^1,2	C,F	--	24466135(+)	`GTAACA/GTAAGA`	6	--	ds500¹		1		WA	118
rs2744605^1,2	C,F,A,H	--	24466174(+)	`AATGTG/AGATAT`	6	--	ut3¹		24		NA NS EA WA CSA	2620
rs200686185^1,2	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

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA0319

DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0319

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 609269
OMIM disorders: 600202
UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43

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. Note=Disease susceptibility is

associated with variations affecting the gene represented in this entry

7 diseases for KIAA0319: About MalaCards

articulation disorder dyslexia polycystic kidney disease kidney disease

cerebritis attention deficit hyperactivity disorder neuronitis

2 diseases from the University of Copenhagen DISEASES database for KIAA0319:

Dyslexia Articulation disorder

KIAA0319 for disorders About GeneDecksing

Genetic Association Database (GAD): KIAA0319
Human Genome Epidemiology (HuGE) Navigator: KIAA0319 (18 documents)

Export disorders for KIAA0319 gene to outside databases

(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)
About This Section

PubMed articles for KIAA0319 gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with KIAA0319)

Utopia: connect your pdf to the dynamic
world of online information

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. (PubMed id 15717286)^{1, 2, 4} Cope N.... Williams J. (2005)
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. (1997)
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PubMed id 17033633)^{1, 4, 9} Harold D....Monaco A.P. (2006)
Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. (PubMed id 18810304)^{1, 4, 9} Ludwig K.U....Hoffmann P. (2008)
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. (2010)
The effect of variation in expression of the candidat e dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendr itic morphology in the rat. (PubMed id 19679544)^{1, 2} Peschansky V.J....Rosen G.D. (2010)
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. (2010)
Dyslexia and DCDC2: normal variation in reading and s pelling is associated with DCDC2 polymorphisms in an Australian population samp le. (PubMed id 20068590)^{1, 4} Lind P.A....Bates T.C. (2010)
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. (2009)
Association of reading disabilities with regions mark ed by acetylated H3 histones in KIAA0319. (PubMed id 19588467)^{1, 4} Couto J.M....Barr C.L. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9856	HGNC: 21580	AceView: KIAA0319	Ensembl:ENSG00000137261	euGenes: HUgn9856
ECgene: KIAA0319	H-InvDB: KIAA0319

(According to HUGE)
About This Section

HUGE: KIAA0319

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIAA0319	Pharmacogenomics, SNPs, Pathways
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt125.shtml

Intellectual Property for KIAA0319 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA0319 gene:
Search GeneIP for patents involving KIAA0319

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Protease Activity Assays and Reagents		Browse Recombinant/Natural Proteins
	Browse Stem Cell Products		Browse Tocris Biochemicals & Compounds
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for KIAA0319
	Browse OriGene qPCR primer pairs and template standards		Browse OriGene Protein Over-expression Lysates
	OriGene Custom Mass Spec		OriGene clones in human, mouse for KIAA0319
	OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0319		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for KIAA0319		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for KIAA0319		OriGene Custom Protein Services for KIAA0319

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KIAA0319
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA0319
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0319
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0319
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0319
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0319

	GenScript Custom Purified and Recombinant Proteins Services for KIAA0319		GenScript cDNA clones with any tag delivered in your preferred vector for KIAA0319
	GenScript Custom Assay Services for KIAA0319		GenScript Custom Superior Antibodies Services for KIAA0319
	GenScript Custom overexpressing Cell Line Services for KIAA0319		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in KIAA0319 promoter
	Search Chromatin IP Primers for KIAA0319
	RT² qPCR Primer Assay in human, mouse, rat KIAA0319
	GNC Network for KIAA0319
	SABiosciences Custom PCR Arrays for KIAA0319

Search Tocris compounds for KIAA0319 (K0319)

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	KIAA0319 antibodies

	Antibodies for KIAA0319
	See all of Abcam's Antibodies, Kits and Proteins for KIAA0319
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Browse Proteins at Cloud-Clone Corp.
	Browse Antibodies at Cloud-Clone Corp.
	Browse ELISAs at Cloud-Clone Corp.
	Browse CLIAs at Cloud-Clone Corp.

Search LifeMap BioReagents cell lines for KIAA0319

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319

	SwitchGear 3'UTR luciferase reporter plasmids for KIAA0319
	Browse SwitchGear Promoter luciferase reporter plasmids for KIAA0319

Search ThermoFisher Antibodies for KIAA0319

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0319

	inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA0319
	inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIAA0319

Customized:

	lentivirus for stable overexpression of KIAA0319
	lentivirus expression plasmids for stable overexpression of KIAA0319
	adenovirus for overexpression of KIAA0319

Search LSBio for Antibodies for KIAA0319

Customized transgenic rodents for:

	Humanization
	Biomarker expression
	Off-target effect monitoring
	Translational medicine
	Tissue-specific gene expresssion
	Time-controlled gene expresssion

GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

View Random Gene

Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KIAA0319 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

KIAA0319 Gene

KIAA0319

Aliases
for KIAA0319 gene

Summaries
for KIAA0319 gene

Genomic Views
for KIAA0319 gene

Proteins
for KIAA0319 gene

Protein Domains /
Families
for KIAA0319 gene

Function
for KIAA0319 gene

Pathways & Interactions
for KIAA0319 gene

Drugs & Compounds
for KIAA0319 gene

Transcripts
for KIAA0319 gene

Expression
for KIAA0319 gene

Orthologs
for KIAA0319 gene

Paralogs
for KIAA0319 gene

Genomic Variants
for KIAA0319 gene

Disorders / Diseases
for KIAA0319 gene

Publications
for KIAA0319 gene

External Searches for KIAA0319 gene

Genome Databases showing KIAA0319 gene

Other Databases showing KIAA0319 gene

Specialized Databases showing KIAA0319 gene

Intellectual Property
for KIAA0319 gene

Products
for KIAA0319 gene

View Random Gene

Advanced Search

Export list of displayed genes

KIAA0319 Gene

KIAA0319

Aliasesfor KIAA0319 gene

Summariesfor KIAA0319 gene

Genomic Viewsfor KIAA0319 gene

Proteinsfor KIAA0319 gene

Protein Domains /Familiesfor KIAA0319 gene

Functionfor KIAA0319 gene

Pathways & Interactionsfor KIAA0319 gene

Drugs & Compoundsfor KIAA0319 gene

Transcriptsfor KIAA0319 gene

Expression for KIAA0319 gene

Orthologsfor KIAA0319 gene

Paralogsfor KIAA0319 gene

Genomic Variantsfor KIAA0319 gene

Disorders / Diseasesfor KIAA0319 gene

Publicationsfor KIAA0319 gene

External Searches for KIAA0319 gene

Genome Databases showing KIAA0319 gene

Other Databases showing KIAA0319 gene

Specialized Databases showing KIAA0319 gene

Intellectual Propertyfor KIAA0319 gene

Productsfor KIAA0319 gene

View Random Gene

Aliases
for KIAA0319 gene

Summaries
for KIAA0319 gene

Genomic Views
for KIAA0319 gene

Proteins
for KIAA0319 gene

Protein Domains /
Families
for KIAA0319 gene

Function
for KIAA0319 gene

Pathways & Interactions
for KIAA0319 gene

Drugs & Compounds
for KIAA0319 gene

Transcripts
for KIAA0319 gene

Expression
for KIAA0319 gene

Orthologs
for KIAA0319 gene

Paralogs
for KIAA0319 gene

Genomic Variants
for KIAA0319 gene

Disorders / Diseases
for KIAA0319 gene

Publications
for KIAA0319 gene

Intellectual Property
for KIAA0319 gene

Products
for KIAA0319 gene