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ARX
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PATHOLOGY ATLAS

GENE/PROTEIN

Dictionary

GENERAL INFORMATION

Gene name

ARX

Gene description

Aristaless related homeobox

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enriched (U-266/70)
HPA (normal tissue):Tissue enriched (ovary)

Protein evidence

Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

Pending cancer tissue analysis.

PROGNOSTIC SUMMARY

Prognostic marker in endometrial cancer (unfavourable).
Endometrial cancer p<0.001
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RNA EXPRESSION OVERVIEW

TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Pending cancer tissue analysis


STAINING SUMMARY

 

GENE INFORMATION

Gene name

ARX (HGNC Symbol)

Synonyms

CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS

Description

Aristaless related homeobox (HGNC Symbol)

Entrez gene summary

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]

Chromosome

X

Cytoband

p21.3

Chromosome location (bp)

25003694 - 25015948

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000004848 (version 83.38)

Entrez gene

170302

UniProt

Q96QS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q96QS3

Antibodypedia

ARX antibodies

PROTEIN BROWSER

ARX-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ARX-001
ENSP00000368332
ENST00000379044
Q96QS3 [Direct mapping]
Homeobox protein ARX
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Predicted intracellular proteins
Plasma proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001206 [transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0001764 [neuron migration]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007411 [axon guidance]
GO:0010628 [positive regulation of gene expression]
GO:0021759 [globus pallidus development]
GO:0021772 [olfactory bulb development]
GO:0021800 [cerebral cortex tangential migration]
GO:0021831 [embryonic olfactory bulb interneuron precursor migration]
GO:0021846 [cell proliferation in forebrain]
GO:0021853 [cerebral cortex GABAergic interneuron migration]
GO:0030900 [forebrain development]
GO:0042127 [regulation of cell proliferation]
GO:0043565 [sequence-specific DNA binding]
GO:0044241 [lipid digestion]
GO:0046622 [positive regulation of organ growth]
GO:0072148 [epithelial cell fate commitment]
Show all
562 aa
58.2 kDa
No 0

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The Human Protein Atlas project is funded
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