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GENE AND PROTEIN SUMMARY

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Gene name

ATXN2

Description

ataxin 2

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

Entrez gene summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

16 in total
0 with predicted TM region
1 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Nucleoli, Nucleus but not nucleoli 

Staining summary

Mainly localized to the cytoplasm. Additionally localized to the nucleus.

Reliability (APE)

Medium

Antibodies in assay

HPA018295, HPA020339, HPA021146
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression, predominately in the CNS.

Tissue specificity

Expressed in 63 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA018295, HPA020339, HPA021146
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 64% of the cancers

Antibodies in assay

HPA018295, HPA020339, HPA021146
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA018295

HPA020339

HPA021146

HPA018295

HPA020339

HPA021146

A-431 Skin High
StrongModerateModerate
A-549 Lung High

-

CACO-2 Colon Medium
HEK 293 Embryonal kidney High
HeLa Cervix Medium
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone High
ModerateModerateModerate
U-251 MG Brain Medium
StrongStrongStrong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA018295 pAb
HPA020339 pAb
HPA021146 pAb