KIAA0319L (KIAA0319 like)

2014-11-01  

Identity

HGNC
KIAA0319L
LOCATION
1p34.3
LOCUSID
79932
ALIAS
AAVR,AAVRL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79932
MIM: 613535
HGNC: 30071
Ensembl: ENSG00000142687

Variants:

dbSNP: 79932
ClinVar: 79932
TCGA: ENSG00000142687
COSMIC: KIAA0319L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142687ENST00000325722Q8IZA0
ENSG00000142687ENST00000373266C9J519
ENSG00000142687ENST00000426982E7EN73
ENSG00000142687ENST00000431916H0Y4S8
ENSG00000142687ENST00000440579B1AN15
ENSG00000142687ENST00000469892C9JVB2
ENSG00000142687ENST00000470388F8WAW2
ENSG00000142687ENST00000478463B4DYG9
ENSG00000142687ENST00000482929B4DYG9
ENSG00000142687ENST00000494948C9JQ56

Expression (GTEx)

0
5
10
15
20
25
30
35
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374418882023Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction.0
374418882023Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction.0
352462482022Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis.0
352462482022Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis.0
292046492017AAV2-Mediated Transduction of the Mouse Retina After Optic Nerve Injury.15
292046492017AAV2-Mediated Transduction of the Mouse Retina After Optic Nerve Injury.15
268149682016An essential receptor for adeno-associated virus infection.238
268149682016An essential receptor for adeno-associated virus infection.238
255969072015Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples.1
255969072015Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples.1
237409372013A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.49
237409372013A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.49
206979542011Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1.22
206979542011Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1.22
195787962009Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.8

Citation

Dessen P

KIAA0319L (KIAA0319 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64854/css/lib/css/card-gene.css