ATXN2L (ataxin 2 like)

2014-11-01  

Identity

HGNC
ATXN2L
LOCATION
16p11.2
LOCUSID
11273
ALIAS
A2D,A2LG,A2LP,A2RP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11273
MIM: 607931
HGNC: 31326
Ensembl: ENSG00000168488

Variants:

dbSNP: 11273
ClinVar: 11273
TCGA: ENSG00000168488
COSMIC: ATXN2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168488ENST00000325215Q8WWM7
ENSG00000168488ENST00000336783Q8WWM7
ENSG00000168488ENST00000340394Q8WWM7
ENSG00000168488ENST00000382686Q8WWM7
ENSG00000168488ENST00000395547Q8WWM7
ENSG00000168488ENST00000562583H3BRB0
ENSG00000168488ENST00000564162H3BPQ7
ENSG00000168488ENST00000564304H3BUF6
ENSG00000168488ENST00000564656H3BSQ5
ENSG00000168488ENST00000565971H3BUE3
ENSG00000168488ENST00000566007H3BQX7
ENSG00000168488ENST00000566946A0A0C4DGL7
ENSG00000168488ENST00000567024H3BQ14
ENSG00000168488ENST00000568266H3BSK9
ENSG00000168488ENST00000569318H3BMX1
ENSG00000168488ENST00000570200Q8WWM7

Expression (GTEx)

0
50
100
150
200
250
300
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
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
173925192007Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.126
204736882010Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children.6
257487912015PRMT1-mediated arginine methylation controls ATXN2L localization.6
307872712019ATXN2L upregulated by epidermal growth factor promotes gastric cancer cell invasiveness and oxaliplatin resistance.5

Citation

Dessen P

ATXN2L (ataxin 2 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60658/atxn2l