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KIAA0319 - KIAA0319 Gene

Also Known as AAVR; DYX2; NMIG; DYLX2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9856

About KIAA0319

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:24,540,141-24,646,191 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues and 13 paralogues. Biased expression in brain (RPKM 5.0), testis (RPKM 0.6) and 3 other tissues.

Summary

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]

KIAA0319 Products (14)

mRNA	Protein	Name
NM_001168374.2	NP_001161846.1	dyslexia-associated protein KIAA0319 isoform b
NM_001168375.2	NP_001161847.1	dyslexia-associated protein KIAA0319 isoform a precursor
NM_001168376.2	NP_001161848.1	dyslexia-associated protein KIAA0319 isoform c
NM_001168377.2	NP_001161849.1	dyslexia-associated protein KIAA0319 isoform d precursor
NM_001252328.2	NP_001239257.1	dyslexia-associated protein KIAA0319 isoform e
NM_001350403.2	NP_001337332.1	dyslexia-associated protein KIAA0319 isoform a precursor
NM_001350404.2	NP_001337333.1	dyslexia-associated protein KIAA0319 isoform f
NM_001350405.2	NP_001337334.1	dyslexia-associated protein KIAA0319 isoform g precursor
NM_001350406.2	NP_001337335.1	dyslexia-associated protein KIAA0319 isoform c
NM_001350407.2	NP_001337336.1	dyslexia-associated protein KIAA0319 isoform h precursor
NM_001350408.2	NP_001337337.1	dyslexia-associated protein KIAA0319 isoform h precursor
NM_001350409.2	NP_001337338.1	dyslexia-associated protein KIAA0319 isoform i
NM_001350410.2	NP_001337339.1	dyslexia-associated protein KIAA0319 isoform i
NM_014809.4	NP_055624.2	dyslexia-associated protein KIAA0319 isoform a precursor

KIAA0319 Protein Structure

REJ

0
200
400
600
800
1000
1072 a.a.

Protein Preferred Names	Protein Names
dyslexia-associated protein KIAA0319	AAV receptor

Related Diseases

Diseases	Alias
Dyslexia 2	Dyslexia, Susceptibility To, 2 DYX2 Reading Disability, Specific, 2 Specific Reading Disability Type 2 Dyslexia, Type 2
Dyslexia
Reading Disorder	Specific Reading Disorder Reading Dyslexia Developmental Reading Disorder
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Specific Language Impairment	Language Impairment, Specific
Dyscalculia	Disorder Of Arithmetical Skills Mathematics Disorder Developmental Arithmetic Disorder
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Writing Disorder
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Speech Disorder	Speech Disorders
Specific Developmental Disorder
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07245	KIAA0319L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07244	KIAA0319 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28599	Kiaa0319l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KIAA0319	VGNC	VGNC:73879
Canis familiaris	KIAA0319	VGNC	VGNC:42343
Bos taurus	KIAA0319	VGNC	VGNC:30548
Mus musculus	KIAA0319	MGD	MGI:3036268
Rattus norvegicus	KIAA0319	RGD	RGD:1307443
Others	KIAA0319	NCBI