ATXN7

GENERAL INFORMATION

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Gene name

ATXN7

Gene description

Ataxin 7

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

A subset of skeletal myocytes displayed strong cytoplasmic immunoreactivity. Respiratory epithelia, urothelia, breast, placental trophoblasts, Purkinje cells and neuropil of cerebellum showed moderate cytoplasmic or nuclear positivity. Remaining normal cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA034989
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ATXN7 (HGNC Symbol)

Synonyms

ADCAII, OPCA3, SCA7

Description

Ataxin 7 (HGNC Symbol)

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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Chromosome

3

Cytoband

p14.1

Chromosome location (bp)

63864557 - 64003462

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163635 (version 78.38)

Entrez gene

6314

UniProt

O15265 (UniProt - Evidence at protein level)

neXtProt

NX_O15265

Antibodypedia

ATXN7 antibodies


PROTEIN BROWSER

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ENST00000295900
 
ENST00000474513
 
ENST00000484332
 
ENST00000487717
 
ENST00000522345
 
ENST00000538065
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATXN7-001 ENSP00000295900
ENST00000295900
O15265
Show all »
Show » Show » 892 95.5 No 0
ATXN7-002 ENSP00000418203
ENST00000474513
Q9UPD8
Show all »
Show » 26 2.5 No 0
ATXN7-004 ENSP00000420234
ENST00000487717
O15265
Show all »
Show » Show » 892 95.5 No 0
ATXN7-006 ENSP00000428277
ENST00000484332
O15265
Show all »
Show » Show » 747 79.5 No 0
ATXN7-013 ENSP00000428067
ENST00000522345
H0YAT6
Show all »
Show » 115 12.2 No 0
ATXN7-201 ENSP00000439585
ENST00000538065
O15265
Show all »
Show » Show » 945 101.1 No 0