KIAA0319 (KIAA0319)

2014-11-01  

Identity

HGNC
KIAA0319
LOCATION
6p22.3
LOCUSID
9856
ALIAS
AAVR,DYLX2,DYX2,NMIG

Other Information

Locus ID:

NCBI: 9856
MIM: 609269
HGNC: 21580
Ensembl: ENSG00000137261

Variants:

dbSNP: 9856
ClinVar: 9856
TCGA: ENSG00000137261
COSMIC: KIAA0319

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137261ENST00000378214Q5VV43
ENSG00000137261ENST00000430948Q5VV43
ENSG00000137261ENST00000535378Q5VV43
ENSG00000137261ENST00000537886Q5VV43
ENSG00000137261ENST00000543707Q5VV43
ENSG00000137261ENST00000616673A0A087X0U9

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372591512023Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.2
372591512023Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.2
350316352022KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.10
350316352022KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.10
307420692019Adeno-associated virus 2 bound to its cellular receptor AAVR.62
312047202019Association between KIAA0319 SNPs and risk of dyslexia: a meta-analysis.1
307420692019Adeno-associated virus 2 bound to its cellular receptor AAVR.62
312047202019Association between KIAA0319 SNPs and risk of dyslexia: a meta-analysis.1
289587542018KIAA0319 promoter DNA methylation predicts dichotic listening performance in forced-attention conditions.9
289587542018KIAA0319 promoter DNA methylation predicts dichotic listening performance in forced-attention conditions.9
280748872017Association analysis of dyslexia candidate genes in a Dutch longitudinal sample.18
283340682017The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling.19
288667882017Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.6
290668552017The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.2
280748872017Association analysis of dyslexia candidate genes in a Dutch longitudinal sample.18

Citation

Dessen P

KIAA0319 (KIAA0319)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64853/kiaa0319-(kiaa0319)