ATXN10 (ataxin 10)

2014-11-01  

Identity

HGNC
ATXN10
LOCATION
22q13.31
LOCUSID
25814
ALIAS
E46L,HUMEEP,SCA10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25814
MIM: 611150
HGNC: 10549
Ensembl: ENSG00000130638

Variants:

dbSNP: 25814
ClinVar: 25814
TCGA: ENSG00000130638
COSMIC: ATXN10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130638ENST00000252934Q9UBB4
ENSG00000130638ENST00000381061Q9UBB4
ENSG00000130638ENST00000402380B1AHE3
ENSG00000130638ENST00000435026B1AHE4
ENSG00000130638ENST00000640901A0A1W2PQD2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
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
313422692019ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.2
313779492019Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.3
313422692019ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.2
313779492019Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.3
284230402017Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.8
285422772017First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.6
289052202017Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.7
291699232017Ataxin-10 is involved in Golgi membrane dynamics.1
284230402017Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.8
285422772017First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.6
289052202017Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.7
291699232017Ataxin-10 is involved in Golgi membrane dynamics.1
256305852015Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.7
256660582015Aurora B-dependent phosphorylation of Ataxin-10 promotes the interaction between Ataxin-10 and Plk1 in cytokinesis.10
260398972015Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10).12

Citation

Dessen P

ATXN10 (ataxin 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60656/atxn10-(ataxin-10)