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
166009912006The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.106
157172862005Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.89
157172862005Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.89
170336332006Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia.66
214579492011DCDC2, KIAA0319 and CMIP are associated with reading-related traits.62
222628802012Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.61
226830912012Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.60
188298732008Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.56
188298732008Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.56
175975872007A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability.45

Citation

Dessen P

KIAA0319 (KIAA0319)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64853/kiaa0319