KIAA0319 Gene
protein-coding GIFtS: 57
GCID: GC06M024493
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|
KIAA0319
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Aliases
for KIAA0319 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| KIAA03191 2 | | DYLX22 5 | | DYX22 5 | | Dyslexia Susceptibility 22 | | Dyslexia-Associated Protein KIAA03192 | | DLX25 |
Export aliases for KIAA0319 gene to outside databasesPrevious GC identifers: GC06M024601 GC06M024652 GC06M024655 |
Summaries
for KIAA0319 gene(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:
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidneydisease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulatingneuronal 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 byRefSeq, Nov 2011)
UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43Function: Involved in neuronal migration during development of the cerebral neocortex. May function in a cellautonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons andradial glial fibers. May also regulate growth and differentiation of dendrites
Gene Wiki entry for KIAA0319
|
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15
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
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-p22.2KIAA0319 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 GC06M024493: view genomic region
(about GC identifiers)
Start:
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24,544,332 bp from pter |
End:
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24,646,383 bp from pter |
Size:
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102,052 bases |
Orientation:
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minus strand |
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Proteins
for KIAA0319 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Imembrane 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 dayspost-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 Q9Y4G7Alternative 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
Post-translational modifications:
N-glycosylated1
O-glycosylated1
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembranecleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5VV43
KIAA0319 Protein expression data from MOPED and PaxDb: 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:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
KIAA0319 for ontologies About GeneDecksing
KIAA0319 Antibody Products:
Assay Products for KIAA0319: |
Protein
Domains /
Families
for KIAA0319 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KIAA0319 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q5VV43ProtoNet protein and cluster: Q5VV43 1 Blocks protein family: IPB011106 Seven cysteines
UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43Similarity: Contains 1 MANSC domainSimilarity: Contains 5 PKD domains |
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,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43Function: Involved in neuronal migration during development of the cerebral neocortex. May function in a cellautonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons andradial 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
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0319 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
KIAA0319 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for KIAA0319:
|
Pathways & Interactions
for KIAA0319 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM 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 I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
KIAA0319 for ontologies About GeneDecksing
|
Drugs & Compounds
for KIAA0319 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KIAA0319
Search CenterWatch for drugs/clinical trials and news about KIAA0319 / K0319
|
Transcripts
for KIAA0319 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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_0011683745 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)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0319 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA 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): BM793061 AI369208 BQ267742 BU615315 T24487 Z40603 AL044313 N50160 AF086065 R61546 BV173714 BM724053 BQ272350 AU130115 BX101658 AI683434 CB306587 BX646625 Z44817 AW025772 AB002317 AA907928 R20983 AU152136
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 |
|---|
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| SP1: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KIAA0319
|
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 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAACTATAT
About this image
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, Q5VV43Tissue specificity: Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in braincortex, putamen, amygdala, hippocampus and cerebellum
SABiosciences Custom PCR Arrays for KIAA0319
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KIAA0319 gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for KIAA0319 (if available)
TreeFam Gene Tree for KIAA0319 (if available) |
Paralogs
for KIAA0319 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KIAA0319 gene
- KIAA0319L2
1 SIMAP similar gene for KIAA0319 using alignment to 2 protein entries: K0319_HUMAN (see all proteins):KIAA0319L
KIAA0319 for paralogs About GeneDecksing
|
Genomic Variants
for KIAA0319 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| 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 |
|---|
HapMap Linkage Disequilibrium report for KIAA0319 (24544332 - 24646383 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KIAA0319
1 CNV: 47969
Human Gene Mutation Database (HGMD): KIAA0319
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing 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.)
About This Section
|
KIAA0319 for disorders About GeneDecksing
OMIM gene information: 609269
OMIM disorders: 600202
UniProtKB/Swiss-Prot: K0319_HUMAN, Q5VV43
Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known asspecific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10%of school-aged children. The disorder is characterized by an impairment of reading performance despite adequatemotivational, educational and intellectual opportunities and in the absence of sensory or neurological disability.Note=A lower expression is associated with the risk haplotype
6  diseases for KIAA0319: About MalaCardsdyslexia attention deficit hyperactivity disorder polycystic kidney disease cerebritis
kidney disease neuronitis
2 diseases from the University of Copenhagen DISEASES database for KIAA0319:Dyslexia Articulation disorder Genetic Association Database (GAD): KIAA0319
Human Genome Epidemiology (HuGE) Navigator: KIAA0319 (18 documents)
Export disorders for KIAA0319 gene to outside databases
|
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)
About This Section
|
PubMed articles for KIAA0319 gene, integrated from 9 sources (see all 39):
(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)
- 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)
- The dyslexia-associated protein KIAA0319 interacts wi th adaptor protein 2 and follows the classical clathrin-mediated endocytosis pa thway. (PubMed id 19419997)1, 2 Levecque C....Monaco A.P. (2009)
- The dyslexia-associated gene KIAA0319 encodes highly N- and O- glycosylated plasma membrane and secreted isoforms. (PubMed id 18063668)1, 2 Velayos-Baeza A.... Monaco A.P. (2008)
- Alternative splicing in the dyslexia-associated gene KIAA0319. (PubMed id 17846832)1, 2 Velayos-Baeza A....Monaco A.P. (2007)
- The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. (PubMed id 16600991)1, 2 Paracchini S....Monaco A.P. (2006)
- A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. (PubMed id 15514892)1, 3 Francks C....Monaco A.P. (2004)
- A transcription map of the 6p22.3 reading disability locus identifying candidate genes. (PubMed id 12834540)1, 2 Londin E.R.... Gruen J.R. (2003)
|
External Searches for KIAA0319 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KIAA0319 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KIAA0319 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing KIAA0319 gene(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 |
|
| | |
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
|
Products
for KIAA0319 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0319 |
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