PAX3

GENERAL INFORMATION

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Gene name

PAX3

Gene description

Paired box 3

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (skeletal muscle, skin, testis)
GTEx:Tissue enhanced (cerebellum, salivary gland)

Protein evidence

Evidence at protein level

Protein localization

Nucleolar expression in skin, testis and cerebellum.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA063659
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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

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (skeletal muscle, skin, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum, salivary gland)

Organ

Expression



GENE INFORMATION

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Gene name

PAX3 (HGNC Symbol)

Synonyms

HUP2, WS1

Description

Paired box 3 (HGNC Symbol)

Entrez gene summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q36.1

Chromosome location (bp)

222199888 - 222298996

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135903 (version 78.38)

Entrez gene

5077

UniProt

P23760 (UniProt - Evidence at protein level)

neXtProt

NX_P23760

Antibodypedia

PAX3 antibodies


PROTEIN BROWSER

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ENST00000258387
 
ENST00000336840
 
ENST00000344493
 
ENST00000350526
 
ENST00000392069
 
ENST00000392070
 
ENST00000409551
 
ENST00000409828
 
 
 
 


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)

PAX3-001 ENSP00000342092
ENST00000344493
P23760
Show all »
Show » Show » 403 44.8 No 0
PAX3-002 ENSP00000338767
ENST00000336840
P23760
Show all »
Show » Show » 407 45.2 No 0
PAX3-003 ENSP00000258387
ENST00000258387
P23760
Show all »
Show » Show » 206 22.7 No 0
PAX3-004 ENSP00000375922
ENST00000392070
P23760
Show all »
Show » Show » 484 53.5 No 0
PAX3-005 ENSP00000386817
ENST00000409828
P23760
Show all »
Show » Show » 215 24.1 No 0
PAX3-006 ENSP00000343052
ENST00000350526
P23760
Show all »
Show » Show » 479 53 No 0
PAX3-008 ENSP00000375921
ENST00000392069
P23760
Show all »
Show » Show » 505 56 No 0
PAX3-009 ENSP00000386750
ENST00000409551
P23760
Show all »
Show » Show » 483 53.3 No 0