KIAA0319 - KIAA0319 Gene

Homo sapiens

Also known as AAVR; DYX2; NMIG; DYLX2

Gene ID: 9856 | Gene type: protein coding

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

Bioactive Molecules (2)

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

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